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 20 30672193 30672193 + Splice_Site SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr20:30672193G>C c.e8-1 BLCA 20 30672279 30672279 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr20:30672279G>A c.705G>A c.(703-705)gaG>gaA p.E235E BLCA 20 30674544 30674544 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 g.chr20:30674544C>T c.886C>T c.(886-888)Ctg>Ttg p.L296L BLCA 20 30676371 30676371 + Splice_Site SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chr20:30676371G>T c.953G>T c.(952-954)gGa>gTa p.G318V BLCA 20 30676390 30676390 + Silent SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr20:30676390G>A c.972G>A c.(970-972)ctG>ctA p.L324L BLCA 20 30681765 30681765 + Missense_Mutation SNP G G C TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr20:30681765G>C c.1129G>C c.(1129-1131)Gct>Cct p.A377P BLCA 20 30681784 30681784 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr20:30681784G>A c.1148G>A c.(1147-1149)cGg>cAg p.R383Q BLCA 20 30681792 30681792 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr20:30681792G>A c.1156G>A c.(1156-1158)Gag>Aag p.E386K BRCA 20 30659555 30659555 + Silent SNP C C T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr20:30659555C>T c.90C>T c.(88-90)taC>taT p.Y30Y BRCA 20 30689216 30689216 + Missense_Mutation SNP G G A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 g.chr20:30689216G>A c.1412G>A c.(1411-1413)cGc>cAc p.R471H CESC 20 30659515 30659515 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr20:30659515C>G c.50C>G c.(49-51)tCa>tGa p.S17* CESC 20 30659523 30659523 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr20:30659523G>A c.58G>A c.(58-60)Gaa>Aaa p.E20K CESC 20 30681813 30681813 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 g.chr20:30681813C>T c.1177C>T c.(1177-1179)Cgg>Tgg p.R393W COAD 20 30640230 30640230 + Frame_Shift_Del DEL G G - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr20:30640230delG c.3delG c.(1-3)ctgfs p.L1fs COAD 20 30662501 30662501 + Silent SNP C C T TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr20:30662501C>T c.342C>T c.(340-342)cgC>cgT p.R114R COAD 20 30671711 30671711 + Missense_Mutation SNP T T C TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr20:30671711T>C c.484T>C c.(484-486)Tcc>Ccc p.S162P COAD 20 30671711 30671711 + Missense_Mutation SNP T T C TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr20:30671711T>C c.484T>C c.(484-486)Tcc>Ccc p.S162P COAD 20 30671713 30671713 + Silent SNP C C T TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr20:30671713C>T c.486C>T c.(484-486)tcC>tcT p.S162S COAD 20 30671796 30671796 + Frame_Shift_Del DEL C C - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr20:30671796delC c.569delC c.(568-570)tccfs p.S190fs COAD 20 30671801 30671801 + Nonsense_Mutation SNP C C T TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr20:30671801C>T c.574C>T c.(574-576)Cga>Tga p.R192* COAD 20 30672339 30672339 + Silent SNP C C T TCGA-CM-5341-01A-01D-1408-10 TCGA-CM-5341-10A-01D-1408-10 g.chr20:30672339C>T c.765C>T c.(763-765)gtC>gtT p.V255V COAD 20 30674488 30674488 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:30674488C>T c.830C>T c.(829-831)tCg>tTg p.S277L COAD 20 30681682 30681682 + Missense_Mutation SNP C C T TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr20:30681682C>T c.1046C>T c.(1045-1047)gCc>gTc p.A349V COAD 20 30681689 30681689 + Silent SNP C C T TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr20:30681689C>T c.1053C>T c.(1051-1053)atC>atT p.I351I COAD 20 30681740 30681740 + Silent SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:30681740C>A c.1104C>A c.(1102-1104)gtC>gtA p.V368V COAD 20 30681740 30681740 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:30681740C>T c.1104C>T c.(1102-1104)gtC>gtT p.V368V COAD 20 30681769 30681769 + Missense_Mutation SNP A A G TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr20:30681769A>G c.1133A>G c.(1132-1134)gAc>gGc p.D378G COAD 20 30681801 30681801 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr20:30681801G>A c.1165G>A c.(1165-1167)Gag>Aag p.E389K COAD 20 30681802 30681802 + Missense_Mutation SNP A A G TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr20:30681802A>G c.1166A>G c.(1165-1167)gAg>gGg p.E389G COAD 20 30686841 30686841 + Silent SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr20:30686841A>G c.1218A>G c.(1216-1218)gaA>gaG p.E406E COAD 20 30686851 30686851 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:30686851T>G c.1228T>G c.(1228-1230)Ttt>Gtt p.F410V COAD 20 30686863 30686863 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr20:30686863A>G c.1240A>G c.(1240-1242)Acc>Gcc p.T414A COAD 20 30686919 30686919 + Nonsense_Mutation SNP C C G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr20:30686919C>G c.1296C>G c.(1294-1296)taC>taG p.Y432* COAD 20 30686922 30686922 + Silent SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr20:30686922C>T c.1299C>T c.(1297-1299)ggC>ggT p.G433G COAD 20 30689234 30689234 + Missense_Mutation SNP C C T TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr20:30689234C>T c.1430C>T c.(1429-1431)cCg>cTg p.P477L COAD 20 30689234 30689234 + Missense_Mutation SNP C C T TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr20:30689234C>T c.1430C>T c.(1429-1431)cCg>cTg p.P477L COADREAD 20 30640230 30640230 + Frame_Shift_Del DEL G G - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr20:30640230delG c.3delG c.(1-3)ctgfs p.L1fs COADREAD 20 30662501 30662501 + Silent SNP C C T TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr20:30662501C>T c.342C>T c.(340-342)cgC>cgT p.R114R COADREAD 20 30662502 30662502 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr20:30662502G>A c.343G>A c.(343-345)Gtt>Att p.V115I COADREAD 20 30671711 30671711 + Missense_Mutation SNP T T C TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr20:30671711T>C c.484T>C c.(484-486)Tcc>Ccc p.S162P COADREAD 20 30671711 30671711 + Missense_Mutation SNP T T C TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr20:30671711T>C c.484T>C c.(484-486)Tcc>Ccc p.S162P COADREAD 20 30671713 30671713 + Silent SNP C C T TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr20:30671713C>T c.486C>T c.(484-486)tcC>tcT p.S162S COADREAD 20 30671796 30671796 + Frame_Shift_Del DEL C C - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr20:30671796delC c.569delC c.(568-570)tccfs p.S190fs COADREAD 20 30671801 30671801 + Nonsense_Mutation SNP C C T TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr20:30671801C>T c.574C>T c.(574-576)Cga>Tga p.R192* COADREAD 20 30672339 30672339 + Silent SNP C C T TCGA-CM-5341-01A-01D-1408-10 TCGA-CM-5341-10A-01D-1408-10 g.chr20:30672339C>T c.765C>T c.(763-765)gtC>gtT p.V255V COADREAD 20 30674488 30674488 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:30674488C>T c.830C>T c.(829-831)tCg>tTg p.S277L COADREAD 20 30681682 30681682 + Missense_Mutation SNP C C T TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr20:30681682C>T c.1046C>T c.(1045-1047)gCc>gTc p.A349V COADREAD 20 30681683 30681683 + Silent SNP C C T TCGA-CI-6619-01B-11D-1826-10 TCGA-CI-6619-10A-01D-1826-10 g.chr20:30681683C>T c.1047C>T c.(1045-1047)gcC>gcT p.A349A COADREAD 20 30681689 30681689 + Silent SNP C C T TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr20:30681689C>T c.1053C>T c.(1051-1053)atC>atT p.I351I COADREAD 20 30681740 30681740 + Silent SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:30681740C>A c.1104C>A c.(1102-1104)gtC>gtA p.V368V COADREAD 20 30681740 30681740 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:30681740C>T c.1104C>T c.(1102-1104)gtC>gtT p.V368V COADREAD 20 30681769 30681769 + Missense_Mutation SNP A A G TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr20:30681769A>G c.1133A>G c.(1132-1134)gAc>gGc p.D378G COADREAD 20 30681801 30681801 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr20:30681801G>A c.1165G>A c.(1165-1167)Gag>Aag p.E389K COADREAD 20 30681802 30681802 + Missense_Mutation SNP A A G TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr20:30681802A>G c.1166A>G c.(1165-1167)gAg>gGg p.E389G COADREAD 20 30686841 30686841 + Silent SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr20:30686841A>G c.1218A>G c.(1216-1218)gaA>gaG p.E406E COADREAD 20 30686851 30686851 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:30686851T>G c.1228T>G c.(1228-1230)Ttt>Gtt p.F410V COADREAD 20 30686863 30686863 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr20:30686863A>G c.1240A>G c.(1240-1242)Acc>Gcc p.T414A COADREAD 20 30686919 30686919 + Nonsense_Mutation SNP C C G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr20:30686919C>G c.1296C>G c.(1294-1296)taC>taG p.Y432* COADREAD 20 30686922 30686922 + Silent SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr20:30686922C>T c.1299C>T c.(1297-1299)ggC>ggT p.G433G COADREAD 20 30689234 30689234 + Missense_Mutation SNP C C T TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr20:30689234C>T c.1430C>T c.(1429-1431)cCg>cTg p.P477L COADREAD 20 30689234 30689234 + Missense_Mutation SNP C C T TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr20:30689234C>T c.1430C>T c.(1429-1431)cCg>cTg p.P477L COADREAD 20 30689235 30689235 + Silent SNP G G A TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr20:30689235G>A c.1431G>A c.(1429-1431)ccG>ccA p.P477P ESCA 20 30659496 30659496 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chr20:30659496G>T c.31G>T c.(31-33)Gtc>Ttc p.V11F ESCA 20 30671780 30671780 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr20:30671780G>A c.553G>A c.(553-555)Ggg>Agg p.G185R ESCA 20 30671802 30671802 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 g.chr20:30671802G>A c.575G>A c.(574-576)cGa>cAa p.R192Q GBM 20 30661155 30661155 + Missense_Mutation SNP A A T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 g.chr20:30661155A>T c.154A>T c.(154-156)Atc>Ttc p.I52F GBM 20 30672225 30672225 + Silent SNP G G A TCGA-12-0619-01A-01D-1492-08 TCGA-12-0619-10A-01D-1492-08 g.chr20:30672225G>A c.651G>A c.(649-651)tcG>tcA p.S217S GBM 20 30674471 30674471 + Missense_Mutation SNP G G A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 g.chr20:30674471G>A c.813G>A c.(811-813)atG>atA p.M271I GBM 20 30674579 30674579 + Silent SNP C C T TCGA-06-6695-01A-11D-1845-08 TCGA-06-6695-10A-01D-1845-08 g.chr20:30674579C>T c.921C>T c.(919-921)ccC>ccT p.P307P GBM 20 30681787 30681787 + Missense_Mutation SNP T T C TCGA-12-3650-01A-01D-1495-08 TCGA-12-3650-10A-01D-1495-08 g.chr20:30681787T>C c.1151T>C c.(1150-1152)gTc>gCc p.V384A GBM 20 30689234 30689234 + Missense_Mutation SNP C C T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr20:30689234C>T c.1430C>T c.(1429-1431)cCg>cTg p.P477L GBMLGG 20 30659555 30659555 + Silent SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 g.chr20:30659555C>T c.90C>T c.(88-90)taC>taT p.Y30Y GBMLGG 20 30661155 30661155 + Missense_Mutation SNP A A T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 g.chr20:30661155A>T c.154A>T c.(154-156)Atc>Ttc p.I52F GBMLGG 20 30667667 30667667 + Silent SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 g.chr20:30667667C>T c.456C>T c.(454-456)agC>agT p.S152S GBMLGG 20 30672225 30672225 + Silent SNP G G A TCGA-12-0619-01A-01D-1492-08 TCGA-12-0619-10A-01D-1492-08 g.chr20:30672225G>A c.651G>A c.(649-651)tcG>tcA p.S217S GBMLGG 20 30674471 30674471 + Missense_Mutation SNP G G A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 g.chr20:30674471G>A c.813G>A c.(811-813)atG>atA p.M271I GBMLGG 20 30674579 30674579 + Silent SNP C C T TCGA-06-6695-01A-11D-1845-08 TCGA-06-6695-10A-01D-1845-08 g.chr20:30674579C>T c.921C>T c.(919-921)ccC>ccT p.P307P GBMLGG 20 30676404 30676404 + Missense_Mutation SNP G G A TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 g.chr20:30676404G>A c.986G>A c.(985-987)gGc>gAc p.G329D GBMLGG 20 30681787 30681787 + Missense_Mutation SNP T T C TCGA-12-3650-01A-01D-1495-08 TCGA-12-3650-10A-01D-1495-08 g.chr20:30681787T>C c.1151T>C c.(1150-1152)gTc>gCc p.V384A GBMLGG 20 30689234 30689234 + Missense_Mutation SNP C C T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr20:30689234C>T c.1430C>T c.(1429-1431)cCg>cTg p.P477L HNSC 20 30659561 30659561 + Silent SNP G G A TCGA-CN-A642-01A-12D-A30E-08 TCGA-CN-A642-10A-01D-A30H-08 g.chr20:30659561G>A c.96G>A c.(94-96)ccG>ccA p.P32P KIPAN 20 30671834 30671834 + Missense_Mutation SNP G G A TCGA-B0-4823-01A-02D-1421-08 TCGA-B0-4823-11A-01D-1421-08 g.chr20:30671834G>A c.607G>A c.(607-609)Gac>Aac p.D203N KIPAN 20 30676371 30676371 + Splice_Site SNP G G A TCGA-B8-5550-01A-01D-1534-10 TCGA-B8-5550-10A-01D-1535-10 g.chr20:30676371G>A c.953G>A c.(952-954)gGa>gAa p.G318E KIRC 20 30671834 30671834 + Missense_Mutation SNP G G A TCGA-B0-4823-01A-02D-1421-08 TCGA-B0-4823-11A-01D-1421-08 g.chr20:30671834G>A c.607G>A c.(607-609)Gac>Aac p.D203N KIRC 20 30676371 30676371 + Splice_Site SNP G G A TCGA-B8-5550-01A-01D-1534-10 TCGA-B8-5550-10A-01D-1535-10 g.chr20:30676371G>A c.953G>A c.(952-954)gGa>gAa p.G318E LGG 20 30659555 30659555 + Silent SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 g.chr20:30659555C>T c.90C>T c.(88-90)taC>taT p.Y30Y LGG 20 30667667 30667667 + Silent SNP C C T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 g.chr20:30667667C>T c.456C>T c.(454-456)agC>agT p.S152S LGG 20 30676404 30676404 + Missense_Mutation SNP G G A TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 g.chr20:30676404G>A c.986G>A c.(985-987)gGc>gAc p.G329D LIHC 20 30640230 30640230 + Frame_Shift_Del DEL G G - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr20:30640230delG c.3delG c.(1-3)ctgfs p.L1fs LUAD 20 30659556 30659556 + Missense_Mutation SNP G G T TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chr20:30659556G>T c.91G>T c.(91-93)Gtg>Ttg p.V31L LUAD 20 30659562 30659562 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr20:30659562G>T c.97G>T c.(97-99)Gat>Tat p.D33Y LUAD 20 30659585 30659585 + Splice_Site SNP G G A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr20:30659585G>A c.120G>A c.(118-120)ccG>ccA p.P40P LUAD 20 30662458 30662458 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 g.chr20:30662458C>A c.299C>A c.(298-300)gCc>gAc p.A100D LUAD 20 30662469 30662469 + Nonsense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr20:30662469G>T c.310G>T c.(310-312)Gag>Tag p.E104* LUAD 20 30662476 30662476 + Missense_Mutation SNP A A T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr20:30662476A>T c.317A>T c.(316-318)tAc>tTc p.Y106F LUAD 20 30667605 30667605 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr20:30667605G>C c.394G>C c.(394-396)Gac>Cac p.D132H LUAD 20 30671745 30671745 + Missense_Mutation SNP C C G TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr20:30671745C>G c.518C>G c.(517-519)aCc>aGc p.T173S LUAD 20 30672297 30672297 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr20:30672297C>T c.723C>T c.(721-723)ctC>ctT p.L241L LUAD 20 30672333 30672333 + Silent SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr20:30672333G>T c.759G>T c.(757-759)ggG>ggT p.G253G LUAD 20 30674477 30674477 + Silent SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 g.chr20:30674477A>G c.819A>G c.(817-819)ccA>ccG p.P273P LUAD 20 30676371 30676371 + Splice_Site SNP G G A TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr20:30676371G>A c.953G>A c.(952-954)gGa>gAa p.G318E LUAD 20 30681810 30681810 + Missense_Mutation SNP G G A TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr20:30681810G>A c.1174G>A c.(1174-1176)Gct>Act p.A392T LUAD 20 30686834 30686834 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 g.chr20:30686834C>A c.1211C>A c.(1210-1212)gCt>gAt p.A404D LUAD 20 30686860 30686860 + Missense_Mutation SNP T T A TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr20:30686860T>A c.1237T>A c.(1237-1239)Ttc>Atc p.F413I LUAD 20 30686915 30686915 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr20:30686915C>A c.1292C>A c.(1291-1293)aCc>aAc p.T431N LUAD 20 30689156 30689156 + Missense_Mutation SNP G G T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr20:30689156G>T c.1352G>T c.(1351-1353)cGt>cTt p.R451L LUAD 20 30689292 30689292 + Silent SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr20:30689292C>A c.1488C>A c.(1486-1488)gcC>gcA p.A496A LUAD 20 30689307 30689307 + Nonsense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr20:30689307C>A c.1503C>A c.(1501-1503)taC>taA p.Y501* LUAD 20 30689308 30689308 + Missense_Mutation SNP C C A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr20:30689308C>A c.1504C>A c.(1504-1506)Caa>Aaa p.Q502K LUSC 20 30661123 30661123 + Splice_Site SNP G G A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 g.chr20:30661123G>A c.122G>A c.(121-123)gGg>gAg p.G41E LUSC 20 30674582 30674582 + Missense_Mutation SNP C C G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 g.chr20:30674582C>G c.924C>G c.(922-924)atC>atG p.I308M LUSC 20 30689186 30689186 + Missense_Mutation SNP G G T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 g.chr20:30689186G>T c.1382G>T c.(1381-1383)tGc>tTc p.C461F LUSC 20 30689285 30689285 + Missense_Mutation SNP A A G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 g.chr20:30689285A>G c.1481A>G c.(1480-1482)tAc>tGc p.Y494C OV 20 30681801 30681801 + Missense_Mutation SNP G G A TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 g.chr20:30681801G>A c.1165G>A c.(1165-1167)Gag>Aag p.E389K OV 20 30689240 30689240 + Missense_Mutation SNP A A T TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 g.chr20:30689240A>T c.1436A>T c.(1435-1437)gAg>gTg p.E479V PAAD 20 30662501 30662501 + Silent SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 g.chr20:30662501C>T c.342C>T c.(340-342)cgC>cgT p.R114R PRAD 20 30659548 30659548 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr20:30659548C>A c.83C>A c.(82-84)cCt>cAt p.P28H PRAD 20 30659555 30659555 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr20:30659555C>T c.90C>T c.(88-90)taC>taT p.Y30Y PRAD 20 30681780 30681780 + Missense_Mutation SNP G G A TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 g.chr20:30681780G>A c.1144G>A c.(1144-1146)Gcc>Acc p.A382T READ 20 30662502 30662502 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr20:30662502G>A c.343G>A c.(343-345)Gtt>Att p.V115I READ 20 30681683 30681683 + Silent SNP C C T TCGA-CI-6619-01B-11D-1826-10 TCGA-CI-6619-10A-01D-1826-10 g.chr20:30681683C>T c.1047C>T c.(1045-1047)gcC>gcT p.A349A READ 20 30689235 30689235 + Silent SNP G G A TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr20:30689235G>A c.1431G>A c.(1429-1431)ccG>ccA p.P477P SARC 20 30659487 30659487 + Missense_Mutation SNP T T C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 g.chr20:30659487T>C c.22T>C c.(22-24)Ttc>Ctc p.F8L SARC 20 30662496 30662496 + Missense_Mutation SNP G G A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 g.chr20:30662496G>A c.337G>A c.(337-339)Gcc>Acc p.A113T SARC 20 30681783 30681783 + Missense_Mutation SNP C C T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 g.chr20:30681783C>T c.1147C>T c.(1147-1149)Cgg>Tgg p.R383W SKCM 20 30659560 30659560 + Missense_Mutation SNP C C G TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr20:30659560C>G c.95C>G c.(94-96)cCg>cGg p.P32R SKCM 20 30662441 30662441 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr20:30662441G>A c.282G>A c.(280-282)tgG>tgA p.W94* SKCM 20 30662496 30662496 + Missense_Mutation SNP G G A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr20:30662496G>A c.337G>A c.(337-339)Gcc>Acc p.A113T SKCM 20 30667604 30667604 + Silent SNP G G A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 g.chr20:30667604G>A c.393G>A c.(391-393)aaG>aaA p.K131K SKCM 20 30671706 30671706 + Missense_Mutation SNP C C T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr20:30671706C>T c.479C>T c.(478-480)tCt>tTt p.S160F SKCM 20 30671796 30671796 + Missense_Mutation SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr20:30671796C>T c.569C>T c.(568-570)tCc>tTc p.S190F SKCM 20 30671804 30671804 + Missense_Mutation SNP A A C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr20:30671804A>C c.577A>C c.(577-579)Agc>Cgc p.S193R SKCM 20 30672196 30672196 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr20:30672196G>A c.622G>A c.(622-624)Ggg>Agg p.G208R SKCM 20 30672208 30672208 + Missense_Mutation SNP C C T TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr20:30672208C>T c.634C>T c.(634-636)Ctc>Ttc p.L212F SKCM 20 30672231 30672231 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr20:30672231C>T c.657C>T c.(655-657)ccC>ccT p.P219P SKCM 20 30672286 30672286 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr20:30672286C>T c.712C>T c.(712-714)Cgg>Tgg p.R238W SKCM 20 30672294 30672294 + Silent SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr20:30672294C>T c.720C>T c.(718-720)tcC>tcT p.S240S SKCM 20 30672323 30672323 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr20:30672323G>A c.749G>A c.(748-750)gGg>gAg p.G250E SKCM 20 30674574 30674574 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:30674574G>A c.916G>A c.(916-918)Gag>Aag p.E306K SKCM 20 30674595 30674595 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr20:30674595G>A c.937G>A c.(937-939)Gag>Aag p.E313K SKCM 20 30681801 30681801 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr20:30681801G>A c.1165G>A c.(1165-1167)Gag>Aag p.E389K SKCM 20 30686817 30686817 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr20:30686817C>T c.1194C>T c.(1192-1194)ttC>ttT p.F398F SKCM 20 30686836 30686836 + Missense_Mutation SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr20:30686836C>T c.1213C>T c.(1213-1215)Cct>Tct p.P405S SKCM 20 30686916 30686916 + Silent SNP C C T TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr20:30686916C>T c.1293C>T c.(1291-1293)acC>acT p.T431T SKCM 20 30686936 30686936 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:30686936C>T c.1313C>T c.(1312-1314)cCa>cTa p.P438L SKCM 20 30689321 30689321 + Silent SNP G G A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr20:30689321G>A c.1517G>A c.(1516-1518)tGa>tAa p.*506*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 20 30667615 30667615 single base substitution G A 3_prime_UTR_variant BLCA-CN 20 30667615 30667615 single base substitution G A missense_variant R134H 401G>A BLCA-CN 20 30667615 30667615 single base substitution G A missense_variant R135H 404G>A BLCA-CN 20 30667615 30667615 single base substitution G A missense_variant R136H 407G>A BLCA-CN 20 30667615 30667615 single base substitution G A missense_variant R155H 464G>A BLCA-CN 20 30667615 30667615 single base substitution G A missense_variant R156H 467G>A BLCA-CN 20 30671834 30671834 single base substitution G C 3_prime_UTR_variant BLCA-CN 20 30671834 30671834 single base substitution G C missense_variant D202H 604G>C BLCA-CN 20 30671834 30671834 single base substitution G C missense_variant D203H 607G>C BLCA-CN 20 30671834 30671834 single base substitution G C missense_variant D204H 610G>C BLCA-CN 20 30671834 30671834 single base substitution G C missense_variant D223H 667G>C BLCA-CN 20 30671834 30671834 single base substitution G C missense_variant D224H 670G>C BLCA-US 20 30672193 30672193 single base substitution G C splice_acceptor_variant BLCA-US 20 30672279 30672279 single base substitution G A 3_prime_UTR_variant BLCA-US 20 30672279 30672279 single base substitution G A synonymous_variant E234E 702G>A BLCA-US 20 30672279 30672279 single base substitution G A synonymous_variant E235E 705G>A BLCA-US 20 30672279 30672279 single base substitution G A synonymous_variant E236E 708G>A BLCA-US 20 30672279 30672279 single base substitution G A synonymous_variant E255E 765G>A BLCA-US 20 30672279 30672279 single base substitution G A synonymous_variant E256E 768G>A BLCA-US 20 30674544 30674544 single base substitution C T 3_prime_UTR_variant BLCA-US 20 30674544 30674544 single base substitution C T synonymous_variant L295L 883C>T BLCA-US 20 30674544 30674544 single base substitution C T synonymous_variant L296L 886C>T BLCA-US 20 30674544 30674544 single base substitution C T synonymous_variant L297L 889C>T BLCA-US 20 30674544 30674544 single base substitution C T synonymous_variant L316L 946C>T BLCA-US 20 30674544 30674544 single base substitution C T synonymous_variant L317L 949C>T BLCA-US 20 30676371 30676371 single base substitution G T missense_variant G317V 950G>T BLCA-US 20 30676371 30676371 single base substitution G T missense_variant G318V 953G>T BLCA-US 20 30676371 30676371 single base substitution G T missense_variant G319V 956G>T BLCA-US 20 30676371 30676371 single base substitution G T missense_variant G338V 1013G>T BLCA-US 20 30676371 30676371 single base substitution G T missense_variant G339V 1016G>T BLCA-US 20 30676371 30676371 single base substitution G T splice_region_variant BLCA-US 20 30681792 30681792 single base substitution G A 3_prime_UTR_variant BLCA-US 20 30681792 30681792 single base substitution G A missense_variant E385K 1153G>A BLCA-US 20 30681792 30681792 single base substitution G A missense_variant E386K 1156G>A BLCA-US 20 30681792 30681792 single base substitution G A missense_variant E387K 1159G>A BLCA-US 20 30681792 30681792 single base substitution G A missense_variant E406K 1216G>A BLCA-US 20 30681792 30681792 single base substitution G A missense_variant E407K 1219G>A BRCA-EU 20 30635852 30635852 deletion of <=200bp T - upstream_gene_variant BRCA-EU 20 30635852 30635852 insertion of <=200bp - T upstream_gene_variant BRCA-EU 20 30635902 30635902 single base substitution C T upstream_gene_variant BRCA-EU 20 30635967 30635967 single base substitution G C upstream_gene_variant BRCA-EU 20 30636579 30636579 single base substitution G T upstream_gene_variant BRCA-EU 20 30637086 30637086 single base substitution A C upstream_gene_variant BRCA-EU 20 30639092 30639092 single base substitution G C upstream_gene_variant BRCA-EU 20 30639580 30639580 single base substitution C T upstream_gene_variant BRCA-EU 20 30641270 30641270 single base substitution G A intron_variant BRCA-EU 20 30642564 30642564 single base substitution G A intron_variant BRCA-EU 20 30643101 30643101 single base substitution C A intron_variant BRCA-EU 20 30643111 30643111 single base substitution T C intron_variant BRCA-EU 20 30644083 30644083 single base substitution G A intron_variant BRCA-EU 20 30645212 30645212 single base substitution G C intron_variant BRCA-EU 20 30645314 30645314 single base substitution G A intron_variant BRCA-EU 20 30646544 30646544 deletion of <=200bp C - intron_variant BRCA-EU 20 30648433 30648433 single base substitution T A intron_variant BRCA-EU 20 30648797 30648797 deletion of <=200bp T - intron_variant BRCA-EU 20 30648797 30648797 insertion of <=200bp - T intron_variant BRCA-EU 20 30650291 30650291 single base substitution A T intron_variant BRCA-EU 20 30651678 30651678 single base substitution G C intron_variant BRCA-EU 20 30653278 30653278 single base substitution T G intron_variant BRCA-EU 20 30653908 30653912 deletion of <=200bp CAAGG - intron_variant BRCA-EU 20 30654755 30654755 single base substitution G C intron_variant BRCA-EU 20 30655796 30655796 single base substitution A T intron_variant BRCA-EU 20 30656193 30656193 deletion of <=200bp T - intron_variant BRCA-EU 20 30656683 30656683 single base substitution G T intron_variant BRCA-EU 20 30656834 30656834 single base substitution A T intron_variant BRCA-EU 20 30657379 30657379 single base substitution T A intron_variant BRCA-EU 20 30658862 30658862 single base substitution T C intron_variant BRCA-EU 20 30661920 30661920 single base substitution G A downstream_gene_variant BRCA-EU 20 30661920 30661920 single base substitution G A intron_variant BRCA-EU 20 30664122 30664122 single base substitution A G downstream_gene_variant BRCA-EU 20 30664122 30664122 single base substitution A G intron_variant BRCA-EU 20 30664210 30664210 single base substitution C T downstream_gene_variant BRCA-EU 20 30664210 30664210 single base substitution C T intron_variant BRCA-EU 20 30664256 30664256 single base substitution G A downstream_gene_variant BRCA-EU 20 30664256 30664256 single base substitution G A intron_variant BRCA-EU 20 30664826 30664827 deletion of <=200bp GC - downstream_gene_variant BRCA-EU 20 30664826 30664827 deletion of <=200bp GC - intron_variant BRCA-EU 20 30666632 30666632 single base substitution C T intron_variant BRCA-EU 20 30667467 30667467 single base substitution C A intron_variant BRCA-EU 20 30671048 30671048 single base substitution G A intron_variant BRCA-EU 20 30673939 30673939 single base substitution C T intron_variant BRCA-EU 20 30675450 30675450 single base substitution T A intron_variant BRCA-EU 20 30675496 30675496 single base substitution G A intron_variant BRCA-EU 20 30676018 30676018 single base substitution T A intron_variant BRCA-EU 20 30676390 30676390 single base substitution G T 3_prime_UTR_variant BRCA-EU 20 30676390 30676390 single base substitution G T synonymous_variant L323L 969G>T BRCA-EU 20 30676390 30676390 single base substitution G T synonymous_variant L324L 972G>T BRCA-EU 20 30676390 30676390 single base substitution G T synonymous_variant L325L 975G>T BRCA-EU 20 30676390 30676390 single base substitution G T synonymous_variant L344L 1032G>T BRCA-EU 20 30676390 30676390 single base substitution G T synonymous_variant L345L 1035G>T BRCA-EU 20 30677392 30677392 single base substitution C G intron_variant BRCA-EU 20 30679367 30679367 single base substitution T G intron_variant BRCA-EU 20 30679652 30679652 single base substitution G C intron_variant BRCA-EU 20 30679900 30679900 single base substitution C A intron_variant BRCA-EU 20 30680425 30680425 single base substitution T G intron_variant BRCA-EU 20 30681796 30681796 single base substitution A G 3_prime_UTR_variant BRCA-EU 20 30681796 30681796 single base substitution A G missense_variant D386G 1157A>G BRCA-EU 20 30681796 30681796 single base substitution A G missense_variant D387G 1160A>G BRCA-EU 20 30681796 30681796 single base substitution A G missense_variant D388G 1163A>G BRCA-EU 20 30681796 30681796 single base substitution A G missense_variant D407G 1220A>G BRCA-EU 20 30681796 30681796 single base substitution A G missense_variant D408G 1223A>G BRCA-EU 20 30682727 30682727 single base substitution G C intron_variant BRCA-EU 20 30682742 30682742 deletion of <=200bp A - intron_variant BRCA-EU 20 30682742 30682742 insertion of <=200bp - A intron_variant BRCA-EU 20 30682889 30682889 single base substitution C T intron_variant BRCA-EU 20 30683476 30683476 single base substitution A G intron_variant BRCA-EU 20 30683610 30683610 single base substitution T C intron_variant BRCA-EU 20 30685029 30685029 single base substitution G T intron_variant BRCA-EU 20 30685803 30685803 single base substitution A C intron_variant BRCA-EU 20 30686079 30686079 single base substitution C G intron_variant BRCA-EU 20 30687075 30687075 single base substitution G T intron_variant BRCA-EU 20 30690259 30690259 single base substitution C T downstream_gene_variant BRCA-EU 20 30690661 30690661 single base substitution C T downstream_gene_variant BRCA-EU 20 30690712 30690712 single base substitution A T downstream_gene_variant BRCA-EU 20 30690825 30690825 single base substitution G A downstream_gene_variant BRCA-EU 20 30691672 30691672 single base substitution G C downstream_gene_variant BRCA-EU 20 30692238 30692238 single base substitution G A downstream_gene_variant BRCA-EU 20 30693057 30693057 single base substitution G C downstream_gene_variant BRCA-EU 20 30693584 30693584 single base substitution C T downstream_gene_variant BRCA-EU 20 30694005 30694005 single base substitution G A downstream_gene_variant BRCA-EU 20 30694488 30694488 single base substitution G C downstream_gene_variant BRCA-EU 20 30694597 30694597 single base substitution C T downstream_gene_variant BRCA-FR 20 30645146 30645146 single base substitution T C intron_variant BRCA-FR 20 30654755 30654755 single base substitution G C intron_variant BRCA-FR 20 30655796 30655796 single base substitution A T intron_variant BRCA-FR 20 30676018 30676018 single base substitution T A intron_variant BRCA-FR 20 30682889 30682889 single base substitution C T intron_variant BRCA-FR 20 30685029 30685029 single base substitution G T intron_variant BRCA-FR 20 30687075 30687075 single base substitution G T intron_variant BRCA-FR 20 30690825 30690825 single base substitution G A downstream_gene_variant BRCA-FR 20 30692238 30692238 single base substitution G A downstream_gene_variant BRCA-UK 20 30671048 30671048 single base substitution G A intron_variant BRCA-UK 20 30683476 30683476 single base substitution A G intron_variant BRCA-UK 20 30683610 30683610 single base substitution T C intron_variant BRCA-US 20 30659555 30659555 single base substitution C T 3_prime_UTR_variant BRCA-US 20 30659555 30659555 single base substitution C T exon_variant BRCA-US 20 30659555 30659555 single base substitution C T synonymous_variant Y30Y 90C>T BRCA-US 20 30659555 30659555 single base substitution C T synonymous_variant Y31Y 93C>T BRCA-US 20 30659555 30659555 single base substitution C T synonymous_variant Y51Y 153C>T BRCA-US 20 30689216 30689216 single base substitution G A 3_prime_UTR_variant BRCA-US 20 30689216 30689216 single base substitution G A missense_variant R470H 1409G>A BRCA-US 20 30689216 30689216 single base substitution G A missense_variant R471H 1412G>A BRCA-US 20 30689216 30689216 single base substitution G A missense_variant R472H 1415G>A BRCA-US 20 30689216 30689216 single base substitution G A missense_variant R491H 1472G>A BRCA-US 20 30689216 30689216 single base substitution G A missense_variant R492H 1475G>A BTCA-JP 20 30641975 30641975 single base substitution C T intron_variant BTCA-JP 20 30659498 30659498 single base substitution C T 3_prime_UTR_variant BTCA-JP 20 30659498 30659498 single base substitution C T exon_variant BTCA-JP 20 30659498 30659498 single base substitution C T synonymous_variant V11V 33C>T BTCA-JP 20 30659498 30659498 single base substitution C T synonymous_variant V12V 36C>T BTCA-JP 20 30659498 30659498 single base substitution C T synonymous_variant V32V 96C>T BTCA-JP 20 30667626 30667626 single base substitution G A 3_prime_UTR_variant BTCA-JP 20 30667626 30667626 single base substitution G A missense_variant A138T 412G>A BTCA-JP 20 30667626 30667626 single base substitution G A missense_variant A139T 415G>A BTCA-JP 20 30667626 30667626 single base substitution G A missense_variant A140T 418G>A BTCA-JP 20 30667626 30667626 single base substitution G A missense_variant A159T 475G>A BTCA-JP 20 30667626 30667626 single base substitution G A missense_variant A160T 478G>A BTCA-JP 20 30671671 30671671 single base substitution G A intron_variant BTCA-JP 20 30674425 30674425 single base substitution C A splice_region_variant BTCA-JP 20 30681695 30681695 single base substitution G C 3_prime_UTR_variant BTCA-JP 20 30681695 30681695 single base substitution G C missense_variant Q352H 1056G>C BTCA-JP 20 30681695 30681695 single base substitution G C missense_variant Q353H 1059G>C BTCA-JP 20 30681695 30681695 single base substitution G C missense_variant Q354H 1062G>C BTCA-JP 20 30681695 30681695 single base substitution G C missense_variant Q373H 1119G>C BTCA-JP 20 30681695 30681695 single base substitution G C missense_variant Q374H 1122G>C BTCA-JP 20 30686911 30686911 single base substitution G A 3_prime_UTR_variant BTCA-JP 20 30686911 30686911 single base substitution G A missense_variant V429I 1285G>A BTCA-JP 20 30686911 30686911 single base substitution G A missense_variant V430I 1288G>A BTCA-JP 20 30686911 30686911 single base substitution G A missense_variant V431I 1291G>A BTCA-JP 20 30686911 30686911 single base substitution G A missense_variant V450I 1348G>A BTCA-JP 20 30686911 30686911 single base substitution G A missense_variant V451I 1351G>A CESC-US 20 30659515 30659515 single base substitution C G 3_prime_UTR_variant CESC-US 20 30659515 30659515 single base substitution C G exon_variant CESC-US 20 30659515 30659515 single base substitution C G stop_gained S17* 50C>G CESC-US 20 30659515 30659515 single base substitution C G stop_gained S18* 53C>G CESC-US 20 30659515 30659515 single base substitution C G stop_gained S38* 113C>G CESC-US 20 30659523 30659523 single base substitution G A 3_prime_UTR_variant CESC-US 20 30659523 30659523 single base substitution G A exon_variant CESC-US 20 30659523 30659523 single base substitution G A missense_variant E20K 58G>A CESC-US 20 30659523 30659523 single base substitution G A missense_variant E21K 61G>A CESC-US 20 30659523 30659523 single base substitution G A missense_variant E41K 121G>A CESC-US 20 30681813 30681813 single base substitution C T 3_prime_UTR_variant CESC-US 20 30681813 30681813 single base substitution C T missense_variant R392W 1174C>T CESC-US 20 30681813 30681813 single base substitution C T missense_variant R393W 1177C>T CESC-US 20 30681813 30681813 single base substitution C T missense_variant R394W 1180C>T CESC-US 20 30681813 30681813 single base substitution C T missense_variant R413W 1237C>T CESC-US 20 30681813 30681813 single base substitution C T missense_variant R414W 1240C>T CLLE-ES 20 30648446 30648449 deletion of <=200bp AAAC - intron_variant CLLE-ES 20 30648781 30648781 single base substitution G A intron_variant CLLE-ES 20 30655008 30655008 single base substitution T G intron_variant CLLE-ES 20 30656890 30656890 single base substitution G A intron_variant CLLE-ES 20 30692462 30692462 single base substitution G A downstream_gene_variant COAD-US 20 30662501 30662501 single base substitution C T 3_prime_UTR_variant COAD-US 20 30662501 30662501 single base substitution C T downstream_gene_variant COAD-US 20 30662501 30662501 single base substitution C T synonymous_variant R113R 339C>T COAD-US 20 30662501 30662501 single base substitution C T synonymous_variant R114R 342C>T COAD-US 20 30662501 30662501 single base substitution C T synonymous_variant R115R 345C>T COAD-US 20 30662501 30662501 single base substitution C T synonymous_variant R134R 402C>T COAD-US 20 30662501 30662501 single base substitution C T synonymous_variant R135R 405C>T COAD-US 20 30671796 30671796 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 20 30671796 30671796 deletion of <=200bp C - frameshift_variant S189 COAD-US 20 30671796 30671796 deletion of <=200bp C - frameshift_variant S190 COAD-US 20 30671796 30671796 deletion of <=200bp C - frameshift_variant S191 COAD-US 20 30671796 30671796 deletion of <=200bp C - frameshift_variant S210 COAD-US 20 30671796 30671796 deletion of <=200bp C - frameshift_variant S211 COAD-US 20 30671801 30671801 single base substitution C T 3_prime_UTR_variant COAD-US 20 30671801 30671801 single base substitution C T stop_gained R191* 571C>T COAD-US 20 30671801 30671801 single base substitution C T stop_gained R192* 574C>T COAD-US 20 30671801 30671801 single base substitution C T stop_gained R193* 577C>T COAD-US 20 30671801 30671801 single base substitution C T stop_gained R212* 634C>T COAD-US 20 30671801 30671801 single base substitution C T stop_gained R213* 637C>T COAD-US 20 30672339 30672339 single base substitution C T 3_prime_UTR_variant COAD-US 20 30672339 30672339 single base substitution C T synonymous_variant V254V 762C>T COAD-US 20 30672339 30672339 single base substitution C T synonymous_variant V255V 765C>T COAD-US 20 30672339 30672339 single base substitution C T synonymous_variant V256V 768C>T COAD-US 20 30672339 30672339 single base substitution C T synonymous_variant V275V 825C>T COAD-US 20 30672339 30672339 single base substitution C T synonymous_variant V276V 828C>T COAD-US 20 30674488 30674488 single base substitution C T 3_prime_UTR_variant COAD-US 20 30674488 30674488 single base substitution C T missense_variant S276L 827C>T COAD-US 20 30674488 30674488 single base substitution C T missense_variant S277L 830C>T COAD-US 20 30674488 30674488 single base substitution C T missense_variant S278L 833C>T COAD-US 20 30674488 30674488 single base substitution C T missense_variant S297L 890C>T COAD-US 20 30674488 30674488 single base substitution C T missense_variant S298L 893C>T COAD-US 20 30681689 30681689 single base substitution C T 3_prime_UTR_variant COAD-US 20 30681689 30681689 single base substitution C T synonymous_variant I350I 1050C>T COAD-US 20 30681689 30681689 single base substitution C T synonymous_variant I351I 1053C>T COAD-US 20 30681689 30681689 single base substitution C T synonymous_variant I352I 1056C>T COAD-US 20 30681689 30681689 single base substitution C T synonymous_variant I371I 1113C>T COAD-US 20 30681689 30681689 single base substitution C T synonymous_variant I372I 1116C>T COAD-US 20 30681740 30681740 single base substitution C A 3_prime_UTR_variant COAD-US 20 30681740 30681740 single base substitution C A synonymous_variant V367V 1101C>A COAD-US 20 30681740 30681740 single base substitution C A synonymous_variant V368V 1104C>A COAD-US 20 30681740 30681740 single base substitution C A synonymous_variant V369V 1107C>A COAD-US 20 30681740 30681740 single base substitution C A synonymous_variant V388V 1164C>A COAD-US 20 30681740 30681740 single base substitution C A synonymous_variant V389V 1167C>A COAD-US 20 30681740 30681740 single base substitution C T 3_prime_UTR_variant COAD-US 20 30681740 30681740 single base substitution C T synonymous_variant V367V 1101C>T COAD-US 20 30681740 30681740 single base substitution C T synonymous_variant V368V 1104C>T COAD-US 20 30681740 30681740 single base substitution C T synonymous_variant V369V 1107C>T COAD-US 20 30681740 30681740 single base substitution C T synonymous_variant V388V 1164C>T COAD-US 20 30681740 30681740 single base substitution C T synonymous_variant V389V 1167C>T COAD-US 20 30686851 30686851 single base substitution T G 3_prime_UTR_variant COAD-US 20 30686851 30686851 single base substitution T G missense_variant F409V 1225T>G COAD-US 20 30686851 30686851 single base substitution T G missense_variant F410V 1228T>G COAD-US 20 30686851 30686851 single base substitution T G missense_variant F411V 1231T>G COAD-US 20 30686851 30686851 single base substitution T G missense_variant F430V 1288T>G COAD-US 20 30686851 30686851 single base substitution T G missense_variant F431V 1291T>G COAD-US 20 30686863 30686863 single base substitution A G 3_prime_UTR_variant COAD-US 20 30686863 30686863 single base substitution A G missense_variant T413A 1237A>G COAD-US 20 30686863 30686863 single base substitution A G missense_variant T414A 1240A>G COAD-US 20 30686863 30686863 single base substitution A G missense_variant T415A 1243A>G COAD-US 20 30686863 30686863 single base substitution A G missense_variant T434A 1300A>G COAD-US 20 30686863 30686863 single base substitution A G missense_variant T435A 1303A>G COAD-US 20 30686919 30686919 single base substitution C G 3_prime_UTR_variant COAD-US 20 30686919 30686919 single base substitution C G stop_gained Y431* 1293C>G COAD-US 20 30686919 30686919 single base substitution C G stop_gained Y432* 1296C>G COAD-US 20 30686919 30686919 single base substitution C G stop_gained Y433* 1299C>G COAD-US 20 30686919 30686919 single base substitution C G stop_gained Y452* 1356C>G COAD-US 20 30686919 30686919 single base substitution C G stop_gained Y453* 1359C>G COAD-US 20 30686922 30686922 single base substitution C T 3_prime_UTR_variant COAD-US 20 30686922 30686922 single base substitution C T synonymous_variant G432G 1296C>T COAD-US 20 30686922 30686922 single base substitution C T synonymous_variant G433G 1299C>T COAD-US 20 30686922 30686922 single base substitution C T synonymous_variant G434G 1302C>T COAD-US 20 30686922 30686922 single base substitution C T synonymous_variant G453G 1359C>T COAD-US 20 30686922 30686922 single base substitution C T synonymous_variant G454G 1362C>T COAD-US 20 30689234 30689234 single base substitution C A 3_prime_UTR_variant COAD-US 20 30689234 30689234 single base substitution C A missense_variant P476Q 1427C>A COAD-US 20 30689234 30689234 single base substitution C A missense_variant P477Q 1430C>A COAD-US 20 30689234 30689234 single base substitution C A missense_variant P478Q 1433C>A COAD-US 20 30689234 30689234 single base substitution C A missense_variant P497Q 1490C>A COAD-US 20 30689234 30689234 single base substitution C A missense_variant P498Q 1493C>A COCA-CN 20 30641967 30641967 single base substitution T G intron_variant COCA-CN 20 30647236 30647236 single base substitution T C intron_variant COCA-CN 20 30647239 30647239 single base substitution C T intron_variant COCA-CN 20 30657619 30657619 single base substitution G A intron_variant COCA-CN 20 30667632 30667632 single base substitution G A 3_prime_UTR_variant COCA-CN 20 30667632 30667632 single base substitution G A missense_variant G140S 418G>A COCA-CN 20 30667632 30667632 single base substitution G A missense_variant G141S 421G>A COCA-CN 20 30667632 30667632 single base substitution G A missense_variant G142S 424G>A COCA-CN 20 30667632 30667632 single base substitution G A missense_variant G161S 481G>A COCA-CN 20 30667632 30667632 single base substitution G A missense_variant G162S 484G>A COCA-CN 20 30671718 30671718 single base substitution G A 3_prime_UTR_variant COCA-CN 20 30671718 30671718 single base substitution G A missense_variant R163Q 488G>A COCA-CN 20 30671718 30671718 single base substitution G A missense_variant R164Q 491G>A COCA-CN 20 30671718 30671718 single base substitution G A missense_variant R165Q 494G>A COCA-CN 20 30671718 30671718 single base substitution G A missense_variant R184Q 551G>A COCA-CN 20 30671718 30671718 single base substitution G A missense_variant R185Q 554G>A COCA-CN 20 30674618 30674618 single base substitution G A splice_region_variant COCA-CN 20 30681941 30681941 single base substitution C A intron_variant COCA-CN 20 30689117 30689117 single base substitution C A intron_variant COCA-CN 20 30689283 30689283 single base substitution C A 3_prime_UTR_variant COCA-CN 20 30689283 30689283 single base substitution C A missense_variant F492L 1476C>A COCA-CN 20 30689283 30689283 single base substitution C A missense_variant F493L 1479C>A COCA-CN 20 30689283 30689283 single base substitution C A missense_variant F494L 1482C>A COCA-CN 20 30689283 30689283 single base substitution C A missense_variant F513L 1539C>A COCA-CN 20 30689283 30689283 single base substitution C A missense_variant F514L 1542C>A EOPC-DE 20 30673471 30673471 single base substitution C T intron_variant ESAD-UK 20 30636342 30636342 single base substitution G A upstream_gene_variant ESAD-UK 20 30637275 30637275 single base substitution C T upstream_gene_variant ESAD-UK 20 30639033 30639033 single base substitution C A upstream_gene_variant ESAD-UK 20 30639799 30639799 single base substitution C T upstream_gene_variant ESAD-UK 20 30640039 30640039 single base substitution G A 5_prime_UTR_variant ESAD-UK 20 30640039 30640039 single base substitution G A upstream_gene_variant ESAD-UK 20 30640513 30640513 single base substitution G A intron_variant ESAD-UK 20 30640913 30640913 single base substitution C A intron_variant ESAD-UK 20 30640920 30640920 single base substitution G T intron_variant ESAD-UK 20 30642159 30642159 single base substitution T C intron_variant ESAD-UK 20 30643350 30643350 single base substitution C G intron_variant ESAD-UK 20 30644038 30644038 single base substitution C T intron_variant ESAD-UK 20 30644153 30644153 insertion of <=200bp - A intron_variant ESAD-UK 20 30644586 30644586 single base substitution C T intron_variant ESAD-UK 20 30645698 30645698 single base substitution G T intron_variant ESAD-UK 20 30645858 30645858 single base substitution G A intron_variant ESAD-UK 20 30646191 30646191 single base substitution C T intron_variant ESAD-UK 20 30646794 30646794 single base substitution A C intron_variant ESAD-UK 20 30648115 30648115 single base substitution T C intron_variant ESAD-UK 20 30648562 30648562 single base substitution C A intron_variant ESAD-UK 20 30648848 30648848 single base substitution G A intron_variant ESAD-UK 20 30650742 30650742 single base substitution C G intron_variant ESAD-UK 20 30650794 30650794 single base substitution G A intron_variant ESAD-UK 20 30650927 30650927 single base substitution C T intron_variant ESAD-UK 20 30651092 30651092 single base substitution G T intron_variant ESAD-UK 20 30651725 30651725 deletion of <=200bp T - intron_variant ESAD-UK 20 30652955 30652955 single base substitution A T intron_variant ESAD-UK 20 30653833 30653833 single base substitution A C intron_variant ESAD-UK 20 30655459 30655459 single base substitution G T intron_variant ESAD-UK 20 30655803 30655803 single base substitution T A intron_variant ESAD-UK 20 30656201 30656201 single base substitution T A intron_variant ESAD-UK 20 30657627 30657627 deletion of <=200bp T - intron_variant ESAD-UK 20 30659746 30659746 single base substitution C T exon_variant ESAD-UK 20 30659746 30659746 single base substitution C T intron_variant ESAD-UK 20 30660523 30660523 single base substitution T G downstream_gene_variant ESAD-UK 20 30660523 30660523 single base substitution T G intron_variant ESAD-UK 20 30663103 30663103 single base substitution C A downstream_gene_variant ESAD-UK 20 30663103 30663103 single base substitution C A intron_variant ESAD-UK 20 30666575 30666575 single base substitution G T intron_variant ESAD-UK 20 30669177 30669177 single base substitution G A intron_variant ESAD-UK 20 30670452 30670452 single base substitution C A intron_variant ESAD-UK 20 30671392 30671392 single base substitution T G intron_variant ESAD-UK 20 30671801 30671801 single base substitution C T 3_prime_UTR_variant ESAD-UK 20 30671801 30671801 single base substitution C T stop_gained R191* 571C>T ESAD-UK 20 30671801 30671801 single base substitution C T stop_gained R192* 574C>T ESAD-UK 20 30671801 30671801 single base substitution C T stop_gained R193* 577C>T ESAD-UK 20 30671801 30671801 single base substitution C T stop_gained R212* 634C>T ESAD-UK 20 30671801 30671801 single base substitution C T stop_gained R213* 637C>T ESAD-UK 20 30672906 30672906 single base substitution C T intron_variant ESAD-UK 20 30674296 30674296 single base substitution T A intron_variant ESAD-UK 20 30674383 30674383 single base substitution G T intron_variant ESAD-UK 20 30675877 30675877 single base substitution T G intron_variant ESAD-UK 20 30676375 30676375 single base substitution C T 3_prime_UTR_variant ESAD-UK 20 30676375 30676375 single base substitution C T synonymous_variant S318S 954C>T ESAD-UK 20 30676375 30676375 single base substitution C T synonymous_variant S319S 957C>T ESAD-UK 20 30676375 30676375 single base substitution C T synonymous_variant S320S 960C>T ESAD-UK 20 30676375 30676375 single base substitution C T synonymous_variant S339S 1017C>T ESAD-UK 20 30676375 30676375 single base substitution C T synonymous_variant S340S 1020C>T ESAD-UK 20 30678010 30678010 single base substitution C A intron_variant ESAD-UK 20 30679552 30679552 single base substitution G T intron_variant ESAD-UK 20 30681459 30681459 single base substitution G T intron_variant ESAD-UK 20 30682056 30682056 single base substitution C A intron_variant ESAD-UK 20 30682094 30682094 single base substitution G A intron_variant ESAD-UK 20 30682637 30682637 insertion of <=200bp - A intron_variant ESAD-UK 20 30683442 30683442 single base substitution G A intron_variant ESAD-UK 20 30684644 30684644 single base substitution G A intron_variant ESAD-UK 20 30686081 30686081 single base substitution T A intron_variant ESAD-UK 20 30686082 30686082 single base substitution C A intron_variant ESAD-UK 20 30686192 30686192 single base substitution G C intron_variant ESAD-UK 20 30687327 30687327 single base substitution A C intron_variant ESAD-UK 20 30687412 30687412 single base substitution C T intron_variant ESAD-UK 20 30688078 30688078 single base substitution C T intron_variant ESAD-UK 20 30688577 30688577 single base substitution G C intron_variant ESAD-UK 20 30689174 30689174 single base substitution G A 3_prime_UTR_variant ESAD-UK 20 30689174 30689174 single base substitution G A missense_variant R456H 1367G>A ESAD-UK 20 30689174 30689174 single base substitution G A missense_variant R457H 1370G>A ESAD-UK 20 30689174 30689174 single base substitution G A missense_variant R458H 1373G>A ESAD-UK 20 30689174 30689174 single base substitution G A missense_variant R477H 1430G>A ESAD-UK 20 30689174 30689174 single base substitution G A missense_variant R478H 1433G>A ESAD-UK 20 30691844 30691844 single base substitution G C downstream_gene_variant ESAD-UK 20 30692564 30692564 single base substitution T C downstream_gene_variant ESAD-UK 20 30693091 30693091 single base substitution C A downstream_gene_variant ESAD-UK 20 30693125 30693125 single base substitution G T downstream_gene_variant ESCA-CN 20 30659623 30659623 single base substitution G C exon_variant ESCA-CN 20 30659623 30659623 single base substitution G C intron_variant ESCA-CN 20 30672204 30672204 single base substitution C T 3_prime_UTR_variant ESCA-CN 20 30672204 30672204 single base substitution C T synonymous_variant D209D 627C>T ESCA-CN 20 30672204 30672204 single base substitution C T synonymous_variant D210D 630C>T ESCA-CN 20 30672204 30672204 single base substitution C T synonymous_variant D211D 633C>T ESCA-CN 20 30672204 30672204 single base substitution C T synonymous_variant D230D 690C>T ESCA-CN 20 30672204 30672204 single base substitution C T synonymous_variant D231D 693C>T ESCA-CN 20 30689266 30689266 single base substitution A T 3_prime_UTR_variant ESCA-CN 20 30689266 30689266 single base substitution A T missense_variant S487C 1459A>T ESCA-CN 20 30689266 30689266 single base substitution A T missense_variant S488C 1462A>T ESCA-CN 20 30689266 30689266 single base substitution A T missense_variant S489C 1465A>T ESCA-CN 20 30689266 30689266 single base substitution A T missense_variant S508C 1522A>T ESCA-CN 20 30689266 30689266 single base substitution A T missense_variant S509C 1525A>T GBM-US 20 30661155 30661155 single base substitution A T 3_prime_UTR_variant GBM-US 20 30661155 30661155 single base substitution A T downstream_gene_variant GBM-US 20 30661155 30661155 single base substitution A T missense_variant I52F 154A>T GBM-US 20 30661155 30661155 single base substitution A T missense_variant I53F 157A>T GBM-US 20 30661155 30661155 single base substitution A T missense_variant I73F 217A>T GBM-US 20 30672225 30672225 single base substitution G A 3_prime_UTR_variant GBM-US 20 30672225 30672225 single base substitution G A synonymous_variant S216S 648G>A GBM-US 20 30672225 30672225 single base substitution G A synonymous_variant S217S 651G>A GBM-US 20 30672225 30672225 single base substitution G A synonymous_variant S218S 654G>A GBM-US 20 30672225 30672225 single base substitution G A synonymous_variant S237S 711G>A GBM-US 20 30672225 30672225 single base substitution G A synonymous_variant S238S 714G>A GBM-US 20 30674471 30674471 single base substitution G A 3_prime_UTR_variant GBM-US 20 30674471 30674471 single base substitution G A missense_variant M270I 810G>A GBM-US 20 30674471 30674471 single base substitution G A missense_variant M271I 813G>A GBM-US 20 30674471 30674471 single base substitution G A missense_variant M272I 816G>A GBM-US 20 30674471 30674471 single base substitution G A missense_variant M291I 873G>A GBM-US 20 30674471 30674471 single base substitution G A missense_variant M292I 876G>A GBM-US 20 30674579 30674579 single base substitution C T 3_prime_UTR_variant GBM-US 20 30674579 30674579 single base substitution C T synonymous_variant P306P 918C>T GBM-US 20 30674579 30674579 single base substitution C T synonymous_variant P307P 921C>T GBM-US 20 30674579 30674579 single base substitution C T synonymous_variant P308P 924C>T GBM-US 20 30674579 30674579 single base substitution C T synonymous_variant P327P 981C>T GBM-US 20 30674579 30674579 single base substitution C T synonymous_variant P328P 984C>T GBM-US 20 30681787 30681787 single base substitution T C 3_prime_UTR_variant GBM-US 20 30681787 30681787 single base substitution T C missense_variant V383A 1148T>C GBM-US 20 30681787 30681787 single base substitution T C missense_variant V384A 1151T>C GBM-US 20 30681787 30681787 single base substitution T C missense_variant V385A 1154T>C GBM-US 20 30681787 30681787 single base substitution T C missense_variant V404A 1211T>C GBM-US 20 30681787 30681787 single base substitution T C missense_variant V405A 1214T>C GBM-US 20 30689234 30689234 single base substitution C T 3_prime_UTR_variant GBM-US 20 30689234 30689234 single base substitution C T missense_variant P476L 1427C>T GBM-US 20 30689234 30689234 single base substitution C T missense_variant P477L 1430C>T GBM-US 20 30689234 30689234 single base substitution C T missense_variant P478L 1433C>T GBM-US 20 30689234 30689234 single base substitution C T missense_variant P497L 1490C>T GBM-US 20 30689234 30689234 single base substitution C T missense_variant P498L 1493C>T KIRC-US 20 30671834 30671834 single base substitution G A 3_prime_UTR_variant KIRC-US 20 30671834 30671834 single base substitution G A missense_variant D202N 604G>A KIRC-US 20 30671834 30671834 single base substitution G A missense_variant D203N 607G>A KIRC-US 20 30671834 30671834 single base substitution G A missense_variant D204N 610G>A KIRC-US 20 30671834 30671834 single base substitution G A missense_variant D223N 667G>A KIRC-US 20 30671834 30671834 single base substitution G A missense_variant D224N 670G>A KIRC-US 20 30676371 30676371 single base substitution G A missense_variant G317E 950G>A KIRC-US 20 30676371 30676371 single base substitution G A missense_variant G318E 953G>A KIRC-US 20 30676371 30676371 single base substitution G A missense_variant G319E 956G>A KIRC-US 20 30676371 30676371 single base substitution G A missense_variant G338E 1013G>A KIRC-US 20 30676371 30676371 single base substitution G A missense_variant G339E 1016G>A KIRC-US 20 30676371 30676371 single base substitution G A splice_region_variant LAML-KR 20 30647100 30647100 single base substitution C T intron_variant LAML-KR 20 30647239 30647239 single base substitution C T intron_variant LAML-KR 20 30661574 30661574 single base substitution C T 3_prime_UTR_variant LAML-KR 20 30661574 30661574 single base substitution C T downstream_gene_variant LAML-KR 20 30661574 30661574 single base substitution C T synonymous_variant H72H 216C>T LAML-KR 20 30661574 30661574 single base substitution C T synonymous_variant H73H 219C>T LAML-KR 20 30661574 30661574 single base substitution C T synonymous_variant H74H 222C>T LAML-KR 20 30661574 30661574 single base substitution C T synonymous_variant H93H 279C>T LAML-KR 20 30661574 30661574 single base substitution C T synonymous_variant H94H 282C>T LGG-US 20 30659555 30659555 single base substitution C T 3_prime_UTR_variant LGG-US 20 30659555 30659555 single base substitution C T exon_variant LGG-US 20 30659555 30659555 single base substitution C T synonymous_variant Y30Y 90C>T LGG-US 20 30659555 30659555 single base substitution C T synonymous_variant Y31Y 93C>T LGG-US 20 30659555 30659555 single base substitution C T synonymous_variant Y51Y 153C>T LGG-US 20 30667667 30667667 single base substitution C T 3_prime_UTR_variant LGG-US 20 30667667 30667667 single base substitution C T synonymous_variant S151S 453C>T LGG-US 20 30667667 30667667 single base substitution C T synonymous_variant S152S 456C>T LGG-US 20 30667667 30667667 single base substitution C T synonymous_variant S153S 459C>T LGG-US 20 30667667 30667667 single base substitution C T synonymous_variant S172S 516C>T LGG-US 20 30667667 30667667 single base substitution C T synonymous_variant S173S 519C>T LICA-CN 20 30674526 30674526 single base substitution A T 3_prime_UTR_variant LICA-CN 20 30674526 30674526 single base substitution A T missense_variant T289S 865A>T LICA-CN 20 30674526 30674526 single base substitution A T missense_variant T290S 868A>T LICA-CN 20 30674526 30674526 single base substitution A T missense_variant T291S 871A>T LICA-CN 20 30674526 30674526 single base substitution A T missense_variant T310S 928A>T LICA-CN 20 30674526 30674526 single base substitution A T missense_variant T311S 931A>T LICA-CN 20 30689309 30689309 single base substitution A T 3_prime_UTR_variant LICA-CN 20 30689309 30689309 single base substitution A T missense_variant Q501L 1502A>T LICA-CN 20 30689309 30689309 single base substitution A T missense_variant Q502L 1505A>T LICA-CN 20 30689309 30689309 single base substitution A T missense_variant Q503L 1508A>T LICA-CN 20 30689309 30689309 single base substitution A T missense_variant Q522L 1565A>T LICA-CN 20 30689309 30689309 single base substitution A T missense_variant Q523L 1568A>T LICA-FR 20 30651905 30651905 single base substitution C A intron_variant LICA-FR 20 30659537 30659537 single base substitution C T 3_prime_UTR_variant LICA-FR 20 30659537 30659537 single base substitution C T exon_variant LICA-FR 20 30659537 30659537 single base substitution C T synonymous_variant S24S 72C>T LICA-FR 20 30659537 30659537 single base substitution C T synonymous_variant S25S 75C>T LICA-FR 20 30659537 30659537 single base substitution C T synonymous_variant S45S 135C>T LICA-FR 20 30671217 30671217 single base substitution A T intron_variant LICA-FR 20 30671799 30671799 single base substitution C T 3_prime_UTR_variant LICA-FR 20 30671799 30671799 single base substitution C T missense_variant P190L 569C>T LICA-FR 20 30671799 30671799 single base substitution C T missense_variant P191L 572C>T LICA-FR 20 30671799 30671799 single base substitution C T missense_variant P192L 575C>T LICA-FR 20 30671799 30671799 single base substitution C T missense_variant P211L 632C>T LICA-FR 20 30671799 30671799 single base substitution C T missense_variant P212L 635C>T LICA-FR 20 30676422 30676422 single base substitution C T 3_prime_UTR_variant LICA-FR 20 30676422 30676422 single base substitution C T missense_variant P334L 1001C>T LICA-FR 20 30676422 30676422 single base substitution C T missense_variant P335L 1004C>T LICA-FR 20 30676422 30676422 single base substitution C T missense_variant P336L 1007C>T LICA-FR 20 30676422 30676422 single base substitution C T missense_variant P355L 1064C>T LICA-FR 20 30676422 30676422 single base substitution C T missense_variant P356L 1067C>T LICA-FR 20 30681800 30681800 single base substitution C A 3_prime_UTR_variant LICA-FR 20 30681800 30681800 single base substitution C A missense_variant N387K 1161C>A LICA-FR 20 30681800 30681800 single base substitution C A missense_variant N388K 1164C>A LICA-FR 20 30681800 30681800 single base substitution C A missense_variant N389K 1167C>A LICA-FR 20 30681800 30681800 single base substitution C A missense_variant N408K 1224C>A LICA-FR 20 30681800 30681800 single base substitution C A missense_variant N409K 1227C>A LICA-FR 20 30683297 30683297 single base substitution T C intron_variant LICA-FR 20 30686492 30686492 single base substitution C G intron_variant LICA-FR 20 30689310 30689310 single base substitution A G 3_prime_UTR_variant LICA-FR 20 30689310 30689310 single base substitution A G synonymous_variant Q501Q 1503A>G LICA-FR 20 30689310 30689310 single base substitution A G synonymous_variant Q502Q 1506A>G LICA-FR 20 30689310 30689310 single base substitution A G synonymous_variant Q503Q 1509A>G LICA-FR 20 30689310 30689310 single base substitution A G synonymous_variant Q522Q 1566A>G LICA-FR 20 30689310 30689310 single base substitution A G synonymous_variant Q523Q 1569A>G LICA-FR 20 30691110 30691110 single base substitution C T downstream_gene_variant LINC-JP 20 30640154 30640154 single base substitution G T 5_prime_UTR_variant LINC-JP 20 30640154 30640154 single base substitution G T exon_variant LINC-JP 20 30640281 30640281 single base substitution G A 5_prime_UTR_variant LINC-JP 20 30640281 30640281 single base substitution G A exon_variant LINC-JP 20 30640281 30640281 single base substitution G A synonymous_variant R18R 54G>A LINC-JP 20 30645895 30645895 single base substitution C T intron_variant LINC-JP 20 30657407 30657407 single base substitution T C intron_variant LINC-JP 20 30661105 30661105 single base substitution T C downstream_gene_variant LINC-JP 20 30661105 30661105 single base substitution T C intron_variant LINC-JP 20 30666022 30666022 single base substitution G T intron_variant LINC-JP 20 30672420 30672420 single base substitution C T intron_variant LINC-JP 20 30675872 30675872 single base substitution T C intron_variant LINC-JP 20 30676460 30676460 single base substitution C G intron_variant LINC-JP 20 30686049 30686049 single base substitution G A intron_variant LINC-JP 20 30689386 30689386 single base substitution A G 3_prime_UTR_variant LINC-JP 20 30689386 30689386 single base substitution A G downstream_gene_variant LINC-JP 20 30691994 30691994 single base substitution G A downstream_gene_variant LIRI-JP 20 30635361 30635361 single base substitution A T upstream_gene_variant LIRI-JP 20 30635868 30635868 single base substitution T A upstream_gene_variant LIRI-JP 20 30636999 30636999 single base substitution C T upstream_gene_variant LIRI-JP 20 30637116 30637116 single base substitution G A upstream_gene_variant LIRI-JP 20 30637929 30637929 single base substitution C T upstream_gene_variant LIRI-JP 20 30638178 30638178 single base substitution C T upstream_gene_variant LIRI-JP 20 30640240 30640240 single base substitution T C 5_prime_UTR_variant LIRI-JP 20 30640240 30640240 single base substitution T C exon_variant LIRI-JP 20 30640240 30640240 single base substitution T C missense_variant S5P 13T>C LIRI-JP 20 30642681 30642681 single base substitution A T intron_variant LIRI-JP 20 30643369 30643369 single base substitution C G intron_variant LIRI-JP 20 30644456 30644456 single base substitution A G intron_variant LIRI-JP 20 30644651 30644651 single base substitution T C intron_variant LIRI-JP 20 30650153 30650153 single base substitution T A intron_variant LIRI-JP 20 30650374 30650374 single base substitution A G intron_variant LIRI-JP 20 30652661 30652661 single base substitution G A intron_variant LIRI-JP 20 30653270 30653270 single base substitution T C intron_variant LIRI-JP 20 30654264 30654264 single base substitution G A intron_variant LIRI-JP 20 30655244 30655244 single base substitution G A intron_variant LIRI-JP 20 30656893 30656893 single base substitution G A intron_variant LIRI-JP 20 30657086 30657086 single base substitution G A intron_variant LIRI-JP 20 30657087 30657087 single base substitution G T intron_variant LIRI-JP 20 30659415 30659415 single base substitution C T intron_variant LIRI-JP 20 30659599 30659599 single base substitution G A exon_variant LIRI-JP 20 30659599 30659599 single base substitution G A intron_variant LIRI-JP 20 30659606 30659606 deletion of <=200bp T - exon_variant LIRI-JP 20 30659606 30659606 deletion of <=200bp T - intron_variant LIRI-JP 20 30659998 30659998 single base substitution C T exon_variant LIRI-JP 20 30659998 30659998 single base substitution C T intron_variant LIRI-JP 20 30663836 30663836 single base substitution C T downstream_gene_variant LIRI-JP 20 30663836 30663836 single base substitution C T intron_variant LIRI-JP 20 30664933 30664933 single base substitution T C downstream_gene_variant LIRI-JP 20 30664933 30664933 single base substitution T C intron_variant LIRI-JP 20 30666952 30666952 single base substitution G A intron_variant LIRI-JP 20 30667061 30667061 single base substitution C T intron_variant LIRI-JP 20 30667071 30667071 single base substitution T A intron_variant LIRI-JP 20 30670587 30670587 single base substitution A C intron_variant LIRI-JP 20 30671131 30671131 single base substitution G A intron_variant LIRI-JP 20 30673881 30673881 single base substitution G A intron_variant LIRI-JP 20 30675167 30675167 single base substitution T A intron_variant LIRI-JP 20 30675940 30675940 single base substitution C T intron_variant LIRI-JP 20 30676288 30676288 single base substitution T C intron_variant LIRI-JP 20 30676514 30676514 single base substitution A C intron_variant LIRI-JP 20 30676788 30676788 single base substitution T C intron_variant LIRI-JP 20 30677111 30677111 single base substitution A G intron_variant LIRI-JP 20 30680081 30680081 single base substitution G A intron_variant LIRI-JP 20 30681212 30681212 single base substitution G A intron_variant LIRI-JP 20 30683763 30683763 single base substitution G T intron_variant LIRI-JP 20 30684609 30684609 single base substitution G A intron_variant LIRI-JP 20 30685417 30685417 single base substitution A G intron_variant LIRI-JP 20 30688767 30688767 single base substitution A T intron_variant LIRI-JP 20 30689892 30689892 single base substitution C A downstream_gene_variant LIRI-JP 20 30690414 30690414 single base substitution G A downstream_gene_variant LIRI-JP 20 30690415 30690415 single base substitution T C downstream_gene_variant LIRI-JP 20 30690888 30690888 single base substitution T C downstream_gene_variant LIRI-JP 20 30691066 30691066 single base substitution G A downstream_gene_variant LIRI-JP 20 30692847 30692847 single base substitution G A downstream_gene_variant LIRI-JP 20 30693942 30693942 single base substitution G A downstream_gene_variant LUSC-KR 20 30640049 30640049 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 20 30640049 30640049 single base substitution C T upstream_gene_variant LUSC-KR 20 30640061 30640061 single base substitution C A 5_prime_UTR_variant LUSC-KR 20 30640061 30640061 single base substitution C A upstream_gene_variant LUSC-KR 20 30647100 30647100 single base substitution C T intron_variant LUSC-KR 20 30648086 30648086 single base substitution C A intron_variant LUSC-KR 20 30650041 30650041 single base substitution G T intron_variant LUSC-KR 20 30650886 30650886 single base substitution G C intron_variant LUSC-KR 20 30655282 30655282 single base substitution C T intron_variant LUSC-KR 20 30656050 30656050 single base substitution G T intron_variant LUSC-KR 20 30664563 30664563 single base substitution C T downstream_gene_variant LUSC-KR 20 30664563 30664563 single base substitution C T intron_variant LUSC-KR 20 30666614 30666614 single base substitution C T intron_variant LUSC-KR 20 30667034 30667034 single base substitution C A intron_variant LUSC-KR 20 30668077 30668077 single base substitution C A intron_variant LUSC-KR 20 30673761 30673761 single base substitution G T intron_variant LUSC-KR 20 30674642 30674642 single base substitution G C intron_variant LUSC-KR 20 30676705 30676705 single base substitution G A intron_variant LUSC-KR 20 30680457 30680457 single base substitution A G intron_variant LUSC-KR 20 30682567 30682567 single base substitution G A intron_variant LUSC-KR 20 30685034 30685034 single base substitution G C intron_variant LUSC-KR 20 30686705 30686705 single base substitution C T intron_variant LUSC-KR 20 30694144 30694144 single base substitution C A downstream_gene_variant LUSC-US 20 30661123 30661123 single base substitution G A downstream_gene_variant LUSC-US 20 30661123 30661123 single base substitution G A missense_variant G41E 122G>A LUSC-US 20 30661123 30661123 single base substitution G A missense_variant G42E 125G>A LUSC-US 20 30661123 30661123 single base substitution G A missense_variant G62E 185G>A LUSC-US 20 30661123 30661123 single base substitution G A splice_region_variant LUSC-US 20 30674582 30674582 single base substitution C G 3_prime_UTR_variant LUSC-US 20 30674582 30674582 single base substitution C G missense_variant I307M 921C>G LUSC-US 20 30674582 30674582 single base substitution C G missense_variant I308M 924C>G LUSC-US 20 30674582 30674582 single base substitution C G missense_variant I309M 927C>G LUSC-US 20 30674582 30674582 single base substitution C G missense_variant I328M 984C>G LUSC-US 20 30674582 30674582 single base substitution C G missense_variant I329M 987C>G LUSC-US 20 30689186 30689186 single base substitution G T 3_prime_UTR_variant LUSC-US 20 30689186 30689186 single base substitution G T missense_variant C460F 1379G>T LUSC-US 20 30689186 30689186 single base substitution G T missense_variant C461F 1382G>T LUSC-US 20 30689186 30689186 single base substitution G T missense_variant C462F 1385G>T LUSC-US 20 30689186 30689186 single base substitution G T missense_variant C481F 1442G>T LUSC-US 20 30689186 30689186 single base substitution G T missense_variant C482F 1445G>T LUSC-US 20 30689285 30689285 single base substitution A G 3_prime_UTR_variant LUSC-US 20 30689285 30689285 single base substitution A G missense_variant Y493C 1478A>G LUSC-US 20 30689285 30689285 single base substitution A G missense_variant Y494C 1481A>G LUSC-US 20 30689285 30689285 single base substitution A G missense_variant Y495C 1484A>G LUSC-US 20 30689285 30689285 single base substitution A G missense_variant Y514C 1541A>G LUSC-US 20 30689285 30689285 single base substitution A G missense_variant Y515C 1544A>G MALY-DE 20 30655242 30655242 single base substitution T C intron_variant MALY-DE 20 30659871 30659871 single base substitution G A exon_variant MALY-DE 20 30659871 30659871 single base substitution G A intron_variant MALY-DE 20 30660395 30660395 single base substitution A G downstream_gene_variant MALY-DE 20 30660395 30660395 single base substitution A G intron_variant MALY-DE 20 30661176 30661176 single base substitution C T downstream_gene_variant MALY-DE 20 30661176 30661176 single base substitution C T intron_variant MALY-DE 20 30665826 30665826 single base substitution T G intron_variant MALY-DE 20 30673272 30673272 single base substitution G A intron_variant MALY-DE 20 30679842 30679842 single base substitution G T intron_variant MELA-AU 20 30635006 30635006 single base substitution G A upstream_gene_variant MELA-AU 20 30635930 30635930 single base substitution C T upstream_gene_variant MELA-AU 20 30635950 30635950 single base substitution C T upstream_gene_variant MELA-AU 20 30636657 30636657 single base substitution C T upstream_gene_variant MELA-AU 20 30636943 30636943 single base substitution T A upstream_gene_variant MELA-AU 20 30637135 30637135 single base substitution G A upstream_gene_variant MELA-AU 20 30637502 30637502 single base substitution C T upstream_gene_variant MELA-AU 20 30637507 30637507 single base substitution C T upstream_gene_variant MELA-AU 20 30637731 30637731 single base substitution C T upstream_gene_variant MELA-AU 20 30638592 30638592 single base substitution C T upstream_gene_variant MELA-AU 20 30639532 30639532 single base substitution G A upstream_gene_variant MELA-AU 20 30639619 30639619 single base substitution C T upstream_gene_variant MELA-AU 20 30640056 30640056 single base substitution G A 5_prime_UTR_variant MELA-AU 20 30640056 30640056 single base substitution G A upstream_gene_variant MELA-AU 20 30640082 30640082 single base substitution G A 5_prime_UTR_variant MELA-AU 20 30640082 30640082 single base substitution G A upstream_gene_variant MELA-AU 20 30640621 30640621 single base substitution A G intron_variant MELA-AU 20 30640887 30640887 single base substitution G A intron_variant MELA-AU 20 30641269 30641269 single base substitution C T intron_variant MELA-AU 20 30641328 30641328 single base substitution C T intron_variant MELA-AU 20 30641367 30641367 single base substitution G A intron_variant MELA-AU 20 30641796 30641796 single base substitution G A intron_variant MELA-AU 20 30641933 30641933 single base substitution A T intron_variant MELA-AU 20 30642013 30642013 single base substitution C T intron_variant MELA-AU 20 30642013 30642013 single base substitution C T splice_region_variant MELA-AU 20 30642145 30642145 single base substitution G A intron_variant MELA-AU 20 30642345 30642345 single base substitution C T intron_variant MELA-AU 20 30642584 30642584 single base substitution G A intron_variant MELA-AU 20 30642756 30642756 single base substitution C T intron_variant MELA-AU 20 30643025 30643025 single base substitution C T intron_variant MELA-AU 20 30643542 30643542 single base substitution C T intron_variant MELA-AU 20 30643576 30643576 single base substitution C T intron_variant MELA-AU 20 30643745 30643745 single base substitution C T intron_variant MELA-AU 20 30643830 30643830 single base substitution A C intron_variant MELA-AU 20 30643881 30643881 single base substitution G A intron_variant MELA-AU 20 30644064 30644064 single base substitution C T intron_variant MELA-AU 20 30644563 30644563 single base substitution G A intron_variant MELA-AU 20 30644653 30644653 single base substitution C T intron_variant MELA-AU 20 30644810 30644810 single base substitution G A intron_variant MELA-AU 20 30644812 30644812 single base substitution T A intron_variant MELA-AU 20 30645077 30645077 single base substitution C T intron_variant MELA-AU 20 30645087 30645087 single base substitution C T intron_variant MELA-AU 20 30645284 30645284 single base substitution T G intron_variant MELA-AU 20 30645347 30645347 single base substitution G A intron_variant MELA-AU 20 30645432 30645432 single base substitution C T intron_variant MELA-AU 20 30645660 30645660 single base substitution T C intron_variant MELA-AU 20 30645847 30645847 single base substitution C T intron_variant MELA-AU 20 30645891 30645892 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 30646007 30646007 single base substitution C T intron_variant MELA-AU 20 30646025 30646025 single base substitution C T intron_variant MELA-AU 20 30646149 30646149 single base substitution A G intron_variant MELA-AU 20 30646351 30646351 single base substitution G A intron_variant MELA-AU 20 30646494 30646494 single base substitution G A intron_variant MELA-AU 20 30646588 30646588 single base substitution G A intron_variant MELA-AU 20 30646754 30646754 single base substitution C T intron_variant MELA-AU 20 30646827 30646827 single base substitution G A intron_variant MELA-AU 20 30646840 30646840 single base substitution G A intron_variant MELA-AU 20 30646874 30646874 single base substitution C T intron_variant MELA-AU 20 30647100 30647100 single base substitution C T intron_variant MELA-AU 20 30647104 30647104 single base substitution C T intron_variant MELA-AU 20 30647116 30647116 single base substitution T C intron_variant MELA-AU 20 30647236 30647236 single base substitution T C intron_variant MELA-AU 20 30647239 30647239 single base substitution C T intron_variant MELA-AU 20 30647286 30647286 single base substitution C T intron_variant MELA-AU 20 30647557 30647557 single base substitution G A intron_variant MELA-AU 20 30647644 30647644 single base substitution A C intron_variant MELA-AU 20 30647820 30647820 single base substitution G A intron_variant MELA-AU 20 30647933 30647933 single base substitution G A intron_variant MELA-AU 20 30647944 30647945 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 30647950 30647950 single base substitution C T intron_variant MELA-AU 20 30648017 30648017 single base substitution C T intron_variant MELA-AU 20 30648440 30648440 single base substitution G A intron_variant MELA-AU 20 30648625 30648625 single base substitution G A intron_variant MELA-AU 20 30648733 30648733 single base substitution G A intron_variant MELA-AU 20 30649269 30649269 single base substitution C T intron_variant MELA-AU 20 30649414 30649414 single base substitution G A intron_variant MELA-AU 20 30649457 30649457 single base substitution G A intron_variant MELA-AU 20 30649600 30649600 single base substitution G A intron_variant MELA-AU 20 30649631 30649631 single base substitution C T intron_variant MELA-AU 20 30649690 30649690 single base substitution G A intron_variant MELA-AU 20 30649727 30649727 single base substitution G A intron_variant MELA-AU 20 30649965 30649965 single base substitution A G intron_variant MELA-AU 20 30650169 30650169 single base substitution A G intron_variant MELA-AU 20 30650335 30650335 single base substitution C T intron_variant MELA-AU 20 30650616 30650616 single base substitution G A intron_variant MELA-AU 20 30650622 30650622 single base substitution G A intron_variant MELA-AU 20 30650660 30650660 single base substitution G A intron_variant MELA-AU 20 30650690 30650690 single base substitution C T intron_variant MELA-AU 20 30650792 30650792 single base substitution T C intron_variant MELA-AU 20 30651339 30651339 single base substitution C T intron_variant MELA-AU 20 30651359 30651359 single base substitution C T intron_variant MELA-AU 20 30651446 30651446 single base substitution A T intron_variant MELA-AU 20 30651532 30651532 single base substitution C T intron_variant MELA-AU 20 30651539 30651539 single base substitution G A intron_variant MELA-AU 20 30651709 30651709 single base substitution C T intron_variant MELA-AU 20 30651743 30651743 single base substitution C T intron_variant MELA-AU 20 30652152 30652152 single base substitution C T intron_variant MELA-AU 20 30652229 30652229 single base substitution G A intron_variant MELA-AU 20 30652285 30652285 single base substitution G A intron_variant MELA-AU 20 30652448 30652448 single base substitution T A intron_variant MELA-AU 20 30652698 30652698 single base substitution G A intron_variant MELA-AU 20 30652713 30652713 single base substitution G A intron_variant MELA-AU 20 30652714 30652714 single base substitution G A intron_variant MELA-AU 20 30652865 30652865 single base substitution G A intron_variant MELA-AU 20 30653049 30653049 single base substitution C T intron_variant MELA-AU 20 30653075 30653075 single base substitution C T intron_variant MELA-AU 20 30653302 30653302 single base substitution C T intron_variant MELA-AU 20 30653435 30653435 single base substitution C T intron_variant MELA-AU 20 30653436 30653436 single base substitution C T intron_variant MELA-AU 20 30653983 30653983 single base substitution C T intron_variant MELA-AU 20 30653984 30653984 single base substitution C T intron_variant MELA-AU 20 30654288 30654288 single base substitution C T intron_variant MELA-AU 20 30654486 30654486 single base substitution C T intron_variant MELA-AU 20 30654542 30654542 single base substitution T G intron_variant MELA-AU 20 30654714 30654714 single base substitution C T intron_variant MELA-AU 20 30654938 30654938 single base substitution C T intron_variant MELA-AU 20 30656209 30656209 single base substitution G A intron_variant MELA-AU 20 30656234 30656234 single base substitution C T intron_variant MELA-AU 20 30656353 30656353 single base substitution G A intron_variant MELA-AU 20 30656438 30656438 single base substitution C T intron_variant MELA-AU 20 30656790 30656790 single base substitution G A intron_variant MELA-AU 20 30657075 30657075 single base substitution C T intron_variant MELA-AU 20 30657080 30657080 single base substitution C T intron_variant MELA-AU 20 30657104 30657104 single base substitution G A intron_variant MELA-AU 20 30657456 30657456 single base substitution G A intron_variant MELA-AU 20 30657576 30657576 single base substitution G A intron_variant MELA-AU 20 30657634 30657634 single base substitution C T intron_variant MELA-AU 20 30658124 30658124 single base substitution C T intron_variant MELA-AU 20 30658131 30658131 single base substitution C T intron_variant MELA-AU 20 30658201 30658201 single base substitution C T intron_variant MELA-AU 20 30658659 30658659 single base substitution G A intron_variant MELA-AU 20 30658688 30658688 single base substitution G A intron_variant MELA-AU 20 30659351 30659351 single base substitution G A intron_variant MELA-AU 20 30659424 30659424 single base substitution C T intron_variant MELA-AU 20 30659492 30659492 single base substitution C T 3_prime_UTR_variant MELA-AU 20 30659492 30659492 single base substitution C T exon_variant MELA-AU 20 30659492 30659492 single base substitution C T synonymous_variant L10L 30C>T MELA-AU 20 30659492 30659492 single base substitution C T synonymous_variant L30L 90C>T MELA-AU 20 30659492 30659492 single base substitution C T synonymous_variant L9L 27C>T MELA-AU 20 30659695 30659695 single base substitution G A exon_variant MELA-AU 20 30659695 30659695 single base substitution G A intron_variant MELA-AU 20 30660180 30660180 single base substitution G A exon_variant MELA-AU 20 30660180 30660180 single base substitution G A intron_variant MELA-AU 20 30660610 30660610 single base substitution G A downstream_gene_variant MELA-AU 20 30660610 30660610 single base substitution G A intron_variant MELA-AU 20 30661011 30661011 single base substitution G A downstream_gene_variant MELA-AU 20 30661011 30661011 single base substitution G A intron_variant MELA-AU 20 30661225 30661225 single base substitution C T downstream_gene_variant MELA-AU 20 30661225 30661225 single base substitution C T intron_variant MELA-AU 20 30661228 30661228 single base substitution C T downstream_gene_variant MELA-AU 20 30661228 30661228 single base substitution C T intron_variant MELA-AU 20 30661263 30661263 single base substitution C T downstream_gene_variant MELA-AU 20 30661263 30661263 single base substitution C T intron_variant MELA-AU 20 30661486 30661486 single base substitution G A downstream_gene_variant MELA-AU 20 30661486 30661486 single base substitution G A intron_variant MELA-AU 20 30661538 30661538 single base substitution C T 3_prime_UTR_variant MELA-AU 20 30661538 30661538 single base substitution C T downstream_gene_variant MELA-AU 20 30661538 30661538 single base substitution C T synonymous_variant I60I 180C>T MELA-AU 20 30661538 30661538 single base substitution C T synonymous_variant I61I 183C>T MELA-AU 20 30661538 30661538 single base substitution C T synonymous_variant I62I 186C>T MELA-AU 20 30661538 30661538 single base substitution C T synonymous_variant I81I 243C>T MELA-AU 20 30661538 30661538 single base substitution C T synonymous_variant I82I 246C>T MELA-AU 20 30661598 30661599 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 20 30661598 30661599 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 30661598 30661599 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant GD101GN MELA-AU 20 30661598 30661599 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant GD102GN MELA-AU 20 30661598 30661599 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant GD80GN MELA-AU 20 30661598 30661599 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant GD81GN MELA-AU 20 30661598 30661599 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant GD82GN MELA-AU 20 30661724 30661724 single base substitution C T downstream_gene_variant MELA-AU 20 30661724 30661724 single base substitution C T intron_variant MELA-AU 20 30661796 30661796 single base substitution G A downstream_gene_variant MELA-AU 20 30661796 30661796 single base substitution G A intron_variant MELA-AU 20 30661798 30661798 single base substitution G A downstream_gene_variant MELA-AU 20 30661798 30661798 single base substitution G A intron_variant MELA-AU 20 30661876 30661876 single base substitution C T downstream_gene_variant MELA-AU 20 30661876 30661876 single base substitution C T intron_variant MELA-AU 20 30662071 30662071 single base substitution C T downstream_gene_variant MELA-AU 20 30662071 30662071 single base substitution C T intron_variant MELA-AU 20 30662152 30662152 single base substitution G T downstream_gene_variant MELA-AU 20 30662152 30662152 single base substitution G T intron_variant MELA-AU 20 30662205 30662205 single base substitution G A downstream_gene_variant MELA-AU 20 30662205 30662205 single base substitution G A intron_variant MELA-AU 20 30662212 30662212 single base substitution G A downstream_gene_variant MELA-AU 20 30662212 30662212 single base substitution G A intron_variant MELA-AU 20 30662241 30662241 single base substitution G A downstream_gene_variant MELA-AU 20 30662241 30662241 single base substitution G A intron_variant MELA-AU 20 30662469 30662469 single base substitution G A 3_prime_UTR_variant MELA-AU 20 30662469 30662469 single base substitution G A downstream_gene_variant MELA-AU 20 30662469 30662469 single base substitution G A missense_variant E103K 307G>A MELA-AU 20 30662469 30662469 single base substitution G A missense_variant E104K 310G>A MELA-AU 20 30662469 30662469 single base substitution G A missense_variant E105K 313G>A MELA-AU 20 30662469 30662469 single base substitution G A missense_variant E124K 370G>A MELA-AU 20 30662469 30662469 single base substitution G A missense_variant E125K 373G>A MELA-AU 20 30662496 30662496 single base substitution G A 3_prime_UTR_variant MELA-AU 20 30662496 30662496 single base substitution G A downstream_gene_variant MELA-AU 20 30662496 30662496 single base substitution G A missense_variant A112T 334G>A MELA-AU 20 30662496 30662496 single base substitution G A missense_variant A113T 337G>A MELA-AU 20 30662496 30662496 single base substitution G A missense_variant A114T 340G>A MELA-AU 20 30662496 30662496 single base substitution G A missense_variant A133T 397G>A MELA-AU 20 30662496 30662496 single base substitution G A missense_variant A134T 400G>A MELA-AU 20 30662499 30662499 single base substitution C T 3_prime_UTR_variant MELA-AU 20 30662499 30662499 single base substitution C T downstream_gene_variant MELA-AU 20 30662499 30662499 single base substitution C T missense_variant R113C 337C>T MELA-AU 20 30662499 30662499 single base substitution C T missense_variant R114C 340C>T MELA-AU 20 30662499 30662499 single base substitution C T missense_variant R115C 343C>T MELA-AU 20 30662499 30662499 single base substitution C T missense_variant R134C 400C>T MELA-AU 20 30662499 30662499 single base substitution C T missense_variant R135C 403C>T MELA-AU 20 30662831 30662831 single base substitution G A downstream_gene_variant MELA-AU 20 30662831 30662831 single base substitution G A intron_variant MELA-AU 20 30663038 30663038 single base substitution C T downstream_gene_variant MELA-AU 20 30663038 30663038 single base substitution C T intron_variant MELA-AU 20 30663062 30663062 single base substitution C T downstream_gene_variant MELA-AU 20 30663062 30663062 single base substitution C T intron_variant MELA-AU 20 30663309 30663309 single base substitution C T downstream_gene_variant MELA-AU 20 30663309 30663309 single base substitution C T intron_variant MELA-AU 20 30663442 30663442 single base substitution G A downstream_gene_variant MELA-AU 20 30663442 30663442 single base substitution G A intron_variant MELA-AU 20 30663468 30663468 single base substitution C T downstream_gene_variant MELA-AU 20 30663468 30663468 single base substitution C T intron_variant MELA-AU 20 30663505 30663505 single base substitution C T downstream_gene_variant MELA-AU 20 30663505 30663505 single base substitution C T intron_variant MELA-AU 20 30663509 30663509 single base substitution T C downstream_gene_variant MELA-AU 20 30663509 30663509 single base substitution T C intron_variant MELA-AU 20 30663548 30663548 single base substitution C T downstream_gene_variant MELA-AU 20 30663548 30663548 single base substitution C T intron_variant MELA-AU 20 30663641 30663641 single base substitution T A downstream_gene_variant MELA-AU 20 30663641 30663641 single base substitution T A intron_variant MELA-AU 20 30663738 30663738 single base substitution C T downstream_gene_variant MELA-AU 20 30663738 30663738 single base substitution C T intron_variant MELA-AU 20 30663766 30663766 single base substitution G A downstream_gene_variant MELA-AU 20 30663766 30663766 single base substitution G A intron_variant MELA-AU 20 30663824 30663824 single base substitution T A downstream_gene_variant MELA-AU 20 30663824 30663824 single base substitution T A intron_variant MELA-AU 20 30663883 30663883 single base substitution C T downstream_gene_variant MELA-AU 20 30663883 30663883 single base substitution C T intron_variant MELA-AU 20 30663886 30663886 single base substitution G A downstream_gene_variant MELA-AU 20 30663886 30663886 single base substitution G A intron_variant MELA-AU 20 30663948 30663948 single base substitution T A downstream_gene_variant MELA-AU 20 30663948 30663948 single base substitution T A intron_variant MELA-AU 20 30664039 30664039 single base substitution G A downstream_gene_variant MELA-AU 20 30664039 30664039 single base substitution G A intron_variant MELA-AU 20 30664119 30664119 single base substitution G A downstream_gene_variant MELA-AU 20 30664119 30664119 single base substitution G A intron_variant MELA-AU 20 30664423 30664423 single base substitution A T downstream_gene_variant MELA-AU 20 30664423 30664423 single base substitution A T intron_variant MELA-AU 20 30664563 30664563 single base substitution C T downstream_gene_variant MELA-AU 20 30664563 30664563 single base substitution C T intron_variant MELA-AU 20 30664681 30664681 single base substitution G A downstream_gene_variant MELA-AU 20 30664681 30664681 single base substitution G A intron_variant MELA-AU 20 30664689 30664689 single base substitution G A downstream_gene_variant MELA-AU 20 30664689 30664689 single base substitution G A intron_variant MELA-AU 20 30664796 30664796 single base substitution G A downstream_gene_variant MELA-AU 20 30664796 30664796 single base substitution G A intron_variant MELA-AU 20 30664902 30664902 single base substitution A T downstream_gene_variant MELA-AU 20 30664902 30664902 single base substitution A T intron_variant MELA-AU 20 30664994 30664994 single base substitution G A downstream_gene_variant MELA-AU 20 30664994 30664994 single base substitution G A intron_variant MELA-AU 20 30665084 30665084 single base substitution C T downstream_gene_variant MELA-AU 20 30665084 30665084 single base substitution C T intron_variant MELA-AU 20 30665352 30665352 single base substitution G A downstream_gene_variant MELA-AU 20 30665352 30665352 single base substitution G A intron_variant MELA-AU 20 30665361 30665361 single base substitution C T downstream_gene_variant MELA-AU 20 30665361 30665361 single base substitution C T intron_variant MELA-AU 20 30665596 30665596 single base substitution G A intron_variant MELA-AU 20 30665676 30665676 single base substitution C T intron_variant MELA-AU 20 30665766 30665766 single base substitution C T intron_variant MELA-AU 20 30665782 30665782 single base substitution A G intron_variant MELA-AU 20 30665794 30665794 single base substitution C T intron_variant MELA-AU 20 30665868 30665868 single base substitution C T intron_variant MELA-AU 20 30666493 30666493 single base substitution C T intron_variant MELA-AU 20 30666542 30666542 deletion of <=200bp C - intron_variant MELA-AU 20 30666555 30666555 single base substitution G A intron_variant MELA-AU 20 30666901 30666901 single base substitution G A intron_variant MELA-AU 20 30666921 30666921 single base substitution G A intron_variant MELA-AU 20 30667136 30667136 single base substitution C T intron_variant MELA-AU 20 30667695 30667696 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 30667768 30667768 single base substitution G A intron_variant MELA-AU 20 30668109 30668109 single base substitution C T intron_variant MELA-AU 20 30668222 30668222 single base substitution G A intron_variant MELA-AU 20 30668228 30668228 single base substitution C T intron_variant MELA-AU 20 30668485 30668486 multiple base substitution (>=2bp and <=200bp) CT TG intron_variant MELA-AU 20 30668489 30668489 single base substitution C T intron_variant MELA-AU 20 30668950 30668950 single base substitution C T intron_variant MELA-AU 20 30669436 30669436 single base substitution G A intron_variant MELA-AU 20 30669842 30669842 single base substitution G A intron_variant MELA-AU 20 30669868 30669868 single base substitution G A intron_variant MELA-AU 20 30669899 30669899 single base substitution T G intron_variant MELA-AU 20 30670221 30670221 single base substitution G A intron_variant MELA-AU 20 30670466 30670466 single base substitution T C intron_variant MELA-AU 20 30670471 30670471 single base substitution T C intron_variant MELA-AU 20 30670919 30670919 single base substitution C T intron_variant MELA-AU 20 30671053 30671053 single base substitution C T intron_variant MELA-AU 20 30671141 30671141 single base substitution C T intron_variant MELA-AU 20 30671148 30671148 single base substitution G A intron_variant MELA-AU 20 30671235 30671235 single base substitution G A intron_variant MELA-AU 20 30671503 30671503 single base substitution C T intron_variant MELA-AU 20 30671673 30671673 single base substitution G T intron_variant MELA-AU 20 30671694 30671694 single base substitution C T splice_region_variant MELA-AU 20 30671696 30671696 single base substitution G A splice_acceptor_variant MELA-AU 20 30671986 30671986 single base substitution G A intron_variant MELA-AU 20 30672106 30672106 single base substitution C T intron_variant MELA-AU 20 30672139 30672139 single base substitution A G intron_variant MELA-AU 20 30672190 30672190 single base substitution C T splice_region_variant MELA-AU 20 30672288 30672288 single base substitution G A 3_prime_UTR_variant MELA-AU 20 30672288 30672288 single base substitution G A synonymous_variant R237R 711G>A MELA-AU 20 30672288 30672288 single base substitution G A synonymous_variant R238R 714G>A MELA-AU 20 30672288 30672288 single base substitution G A synonymous_variant R239R 717G>A MELA-AU 20 30672288 30672288 single base substitution G A synonymous_variant R258R 774G>A MELA-AU 20 30672288 30672288 single base substitution G A synonymous_variant R259R 777G>A MELA-AU 20 30672293 30672293 single base substitution C T 3_prime_UTR_variant MELA-AU 20 30672293 30672293 single base substitution C T missense_variant S239F 716C>T MELA-AU 20 30672293 30672293 single base substitution C T missense_variant S240F 719C>T MELA-AU 20 30672293 30672293 single base substitution C T missense_variant S241F 722C>T MELA-AU 20 30672293 30672293 single base substitution C T missense_variant S260F 779C>T MELA-AU 20 30672293 30672293 single base substitution C T missense_variant S261F 782C>T MELA-AU 20 30672294 30672294 single base substitution C T 3_prime_UTR_variant MELA-AU 20 30672294 30672294 single base substitution C T synonymous_variant S239S 717C>T MELA-AU 20 30672294 30672294 single base substitution C T synonymous_variant S240S 720C>T MELA-AU 20 30672294 30672294 single base substitution C T synonymous_variant S241S 723C>T MELA-AU 20 30672294 30672294 single base substitution C T synonymous_variant S260S 780C>T MELA-AU 20 30672294 30672294 single base substitution C T synonymous_variant S261S 783C>T MELA-AU 20 30672382 30672382 single base substitution G C intron_variant MELA-AU 20 30672391 30672391 single base substitution G A intron_variant MELA-AU 20 30672404 30672404 single base substitution C T intron_variant MELA-AU 20 30672420 30672421 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 30672570 30672570 single base substitution C T intron_variant MELA-AU 20 30672593 30672593 single base substitution G A intron_variant MELA-AU 20 30672609 30672609 single base substitution C T intron_variant MELA-AU 20 30672616 30672616 single base substitution G A intron_variant MELA-AU 20 30672617 30672617 single base substitution G A intron_variant MELA-AU 20 30672952 30672952 single base substitution G A intron_variant MELA-AU 20 30673001 30673001 single base substitution C T intron_variant MELA-AU 20 30673091 30673091 single base substitution G A intron_variant MELA-AU 20 30673114 30673114 single base substitution G A intron_variant MELA-AU 20 30673153 30673153 single base substitution G A intron_variant MELA-AU 20 30673363 30673364 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 30673415 30673415 single base substitution C T intron_variant MELA-AU 20 30673423 30673423 single base substitution A G intron_variant MELA-AU 20 30673491 30673491 single base substitution G A intron_variant MELA-AU 20 30673574 30673574 single base substitution C T intron_variant MELA-AU 20 30673948 30673948 single base substitution C T intron_variant MELA-AU 20 30674262 30674262 single base substitution C T intron_variant MELA-AU 20 30674282 30674282 single base substitution C T intron_variant MELA-AU 20 30674341 30674341 single base substitution G A intron_variant MELA-AU 20 30674342 30674342 single base substitution G A intron_variant MELA-AU 20 30674795 30674795 single base substitution C T intron_variant MELA-AU 20 30674878 30674878 single base substitution G A intron_variant MELA-AU 20 30675015 30675015 single base substitution C T intron_variant MELA-AU 20 30675127 30675127 single base substitution G A intron_variant MELA-AU 20 30675334 30675334 single base substitution G A intron_variant MELA-AU 20 30675449 30675449 single base substitution T A intron_variant MELA-AU 20 30675780 30675780 single base substitution C T intron_variant MELA-AU 20 30675790 30675790 single base substitution C T intron_variant MELA-AU 20 30675843 30675843 single base substitution G A intron_variant MELA-AU 20 30675944 30675944 single base substitution G A intron_variant MELA-AU 20 30675960 30675960 single base substitution C T intron_variant MELA-AU 20 30675966 30675966 single base substitution C T intron_variant MELA-AU 20 30675983 30675983 single base substitution A C intron_variant MELA-AU 20 30676051 30676051 single base substitution C T intron_variant MELA-AU 20 30676126 30676126 single base substitution C T intron_variant MELA-AU 20 30676130 30676130 single base substitution G A intron_variant MELA-AU 20 30676166 30676166 single base substitution C T intron_variant MELA-AU 20 30676354 30676354 single base substitution C T intron_variant MELA-AU 20 30676363 30676363 single base substitution C T splice_region_variant MELA-AU 20 30676370 30676370 single base substitution G A splice_acceptor_variant MELA-AU 20 30676464 30676464 single base substitution G T intron_variant MELA-AU 20 30676472 30676472 single base substitution G A intron_variant MELA-AU 20 30676477 30676477 single base substitution G A intron_variant MELA-AU 20 30676489 30676489 single base substitution C T intron_variant MELA-AU 20 30677067 30677067 single base substitution C T intron_variant MELA-AU 20 30677137 30677137 single base substitution A T intron_variant MELA-AU 20 30677432 30677432 single base substitution C T intron_variant MELA-AU 20 30677630 30677630 single base substitution G A intron_variant MELA-AU 20 30677715 30677715 single base substitution G A intron_variant MELA-AU 20 30677722 30677722 single base substitution G A intron_variant MELA-AU 20 30677980 30677980 single base substitution C T intron_variant MELA-AU 20 30678074 30678074 single base substitution G A intron_variant MELA-AU 20 30678393 30678393 single base substitution G A intron_variant MELA-AU 20 30678451 30678451 single base substitution C T intron_variant MELA-AU 20 30678708 30678708 single base substitution C T intron_variant MELA-AU 20 30678847 30678847 single base substitution G A intron_variant MELA-AU 20 30679233 30679233 single base substitution G A intron_variant MELA-AU 20 30679369 30679369 single base substitution C T intron_variant MELA-AU 20 30679853 30679853 single base substitution C T intron_variant MELA-AU 20 30680210 30680210 single base substitution G A intron_variant MELA-AU 20 30680511 30680511 single base substitution C T intron_variant MELA-AU 20 30680701 30680701 single base substitution C T intron_variant MELA-AU 20 30680760 30680760 single base substitution C T intron_variant MELA-AU 20 30680796 30680796 single base substitution G A intron_variant MELA-AU 20 30681061 30681061 single base substitution C T intron_variant MELA-AU 20 30681077 30681077 single base substitution A C intron_variant MELA-AU 20 30681222 30681222 single base substitution A G intron_variant MELA-AU 20 30681249 30681249 single base substitution G A intron_variant MELA-AU 20 30681251 30681251 single base substitution A T intron_variant MELA-AU 20 30681255 30681255 single base substitution G A intron_variant MELA-AU 20 30681266 30681266 single base substitution G A intron_variant MELA-AU 20 30681470 30681470 single base substitution C T intron_variant MELA-AU 20 30681737 30681737 single base substitution G A 3_prime_UTR_variant MELA-AU 20 30681737 30681737 single base substitution G A synonymous_variant L366L 1098G>A MELA-AU 20 30681737 30681737 single base substitution G A synonymous_variant L367L 1101G>A MELA-AU 20 30681737 30681737 single base substitution G A synonymous_variant L368L 1104G>A MELA-AU 20 30681737 30681737 single base substitution G A synonymous_variant L387L 1161G>A MELA-AU 20 30681737 30681737 single base substitution G A synonymous_variant L388L 1164G>A MELA-AU 20 30682068 30682068 single base substitution G A intron_variant MELA-AU 20 30682303 30682303 single base substitution G A intron_variant MELA-AU 20 30682555 30682555 single base substitution A G intron_variant MELA-AU 20 30682566 30682566 single base substitution A G intron_variant MELA-AU 20 30682584 30682584 single base substitution G A intron_variant MELA-AU 20 30682592 30682592 single base substitution G A intron_variant MELA-AU 20 30682594 30682594 single base substitution A G intron_variant MELA-AU 20 30682850 30682850 single base substitution G A intron_variant MELA-AU 20 30683356 30683356 single base substitution G A intron_variant MELA-AU 20 30683721 30683721 single base substitution C T intron_variant MELA-AU 20 30684340 30684340 single base substitution T G intron_variant MELA-AU 20 30685142 30685142 single base substitution G A intron_variant MELA-AU 20 30685292 30685292 single base substitution G A intron_variant MELA-AU 20 30685423 30685423 single base substitution T C intron_variant MELA-AU 20 30685618 30685618 single base substitution C T intron_variant MELA-AU 20 30685875 30685875 single base substitution G A intron_variant MELA-AU 20 30685940 30685940 single base substitution C T intron_variant MELA-AU 20 30685941 30685941 single base substitution C T intron_variant MELA-AU 20 30686091 30686091 single base substitution C T intron_variant MELA-AU 20 30686182 30686182 single base substitution C T intron_variant MELA-AU 20 30686562 30686562 single base substitution G A intron_variant MELA-AU 20 30686617 30686617 single base substitution C T intron_variant MELA-AU 20 30686647 30686647 single base substitution G A intron_variant MELA-AU 20 30686668 30686668 single base substitution G A intron_variant MELA-AU 20 30686684 30686684 single base substitution G A intron_variant MELA-AU 20 30686886 30686886 single base substitution C T 3_prime_UTR_variant MELA-AU 20 30686886 30686886 single base substitution C T synonymous_variant S420S 1260C>T MELA-AU 20 30686886 30686886 single base substitution C T synonymous_variant S421S 1263C>T MELA-AU 20 30686886 30686886 single base substitution C T synonymous_variant S422S 1266C>T MELA-AU 20 30686886 30686886 single base substitution C T synonymous_variant S441S 1323C>T MELA-AU 20 30686886 30686886 single base substitution C T synonymous_variant S442S 1326C>T MELA-AU 20 30686928 30686928 single base substitution C T 3_prime_UTR_variant MELA-AU 20 30686928 30686928 single base substitution C T synonymous_variant I434I 1302C>T MELA-AU 20 30686928 30686928 single base substitution C T synonymous_variant I435I 1305C>T MELA-AU 20 30686928 30686928 single base substitution C T synonymous_variant I436I 1308C>T MELA-AU 20 30686928 30686928 single base substitution C T synonymous_variant I455I 1365C>T MELA-AU 20 30686928 30686928 single base substitution C T synonymous_variant I456I 1368C>T MELA-AU 20 30686944 30686944 single base substitution G A splice_region_variant MELA-AU 20 30686973 30686973 single base substitution G A intron_variant MELA-AU 20 30687160 30687160 single base substitution T C intron_variant MELA-AU 20 30687224 30687224 single base substitution G A intron_variant MELA-AU 20 30687949 30687949 single base substitution G A intron_variant MELA-AU 20 30688087 30688087 single base substitution C T intron_variant MELA-AU 20 30688289 30688289 single base substitution G A intron_variant MELA-AU 20 30688558 30688558 single base substitution C T intron_variant MELA-AU 20 30688835 30688835 single base substitution G A intron_variant MELA-AU 20 30688849 30688849 single base substitution C T intron_variant MELA-AU 20 30688909 30688909 single base substitution C T intron_variant MELA-AU 20 30688927 30688927 single base substitution C T intron_variant MELA-AU 20 30689001 30689001 single base substitution G A intron_variant MELA-AU 20 30689144 30689144 single base substitution G A 3_prime_UTR_variant MELA-AU 20 30689144 30689144 single base substitution G A missense_variant R446Q 1337G>A MELA-AU 20 30689144 30689144 single base substitution G A missense_variant R447Q 1340G>A MELA-AU 20 30689144 30689144 single base substitution G A missense_variant R448Q 1343G>A MELA-AU 20 30689144 30689144 single base substitution G A missense_variant R467Q 1400G>A MELA-AU 20 30689144 30689144 single base substitution G A missense_variant R468Q 1403G>A MELA-AU 20 30689321 30689321 single base substitution G A 3_prime_UTR_variant MELA-AU 20 30689321 30689321 single base substitution G A stop_retained_variant *505* 1514G>A MELA-AU 20 30689321 30689321 single base substitution G A stop_retained_variant *506* 1517G>A MELA-AU 20 30689321 30689321 single base substitution G A stop_retained_variant *507* 1520G>A MELA-AU 20 30689321 30689321 single base substitution G A stop_retained_variant *526* 1577G>A MELA-AU 20 30689321 30689321 single base substitution G A stop_retained_variant *527* 1580G>A MELA-AU 20 30689432 30689432 single base substitution C T 3_prime_UTR_variant MELA-AU 20 30689432 30689432 single base substitution C T downstream_gene_variant MELA-AU 20 30689478 30689478 single base substitution G A 3_prime_UTR_variant MELA-AU 20 30689478 30689478 single base substitution G A downstream_gene_variant MELA-AU 20 30689479 30689479 single base substitution G A 3_prime_UTR_variant MELA-AU 20 30689479 30689479 single base substitution G A downstream_gene_variant MELA-AU 20 30689552 30689552 single base substitution C T 3_prime_UTR_variant MELA-AU 20 30689552 30689552 single base substitution C T downstream_gene_variant MELA-AU 20 30689594 30689594 single base substitution G A 3_prime_UTR_variant MELA-AU 20 30689594 30689594 single base substitution G A downstream_gene_variant MELA-AU 20 30689676 30689676 single base substitution C T downstream_gene_variant MELA-AU 20 30689743 30689743 single base substitution C T downstream_gene_variant MELA-AU 20 30689962 30689962 single base substitution G A downstream_gene_variant MELA-AU 20 30689995 30689995 single base substitution G A downstream_gene_variant MELA-AU 20 30690038 30690038 single base substitution C T downstream_gene_variant MELA-AU 20 30690184 30690184 single base substitution C T downstream_gene_variant MELA-AU 20 30690585 30690585 single base substitution C T downstream_gene_variant MELA-AU 20 30690900 30690900 single base substitution G A downstream_gene_variant MELA-AU 20 30691153 30691153 single base substitution G A downstream_gene_variant MELA-AU 20 30691291 30691291 single base substitution G A downstream_gene_variant MELA-AU 20 30691347 30691348 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 30691513 30691513 single base substitution G A downstream_gene_variant MELA-AU 20 30691556 30691556 single base substitution C T downstream_gene_variant MELA-AU 20 30691580 30691580 single base substitution C T downstream_gene_variant MELA-AU 20 30691599 30691599 single base substitution C T downstream_gene_variant MELA-AU 20 30691600 30691600 single base substitution C T downstream_gene_variant MELA-AU 20 30692576 30692576 single base substitution T C downstream_gene_variant MELA-AU 20 30693243 30693243 single base substitution G A downstream_gene_variant MELA-AU 20 30693427 30693427 single base substitution T C downstream_gene_variant MELA-AU 20 30693520 30693520 single base substitution G A downstream_gene_variant MELA-AU 20 30693628 30693628 single base substitution C G downstream_gene_variant MELA-AU 20 30693656 30693656 single base substitution G A downstream_gene_variant MELA-AU 20 30693685 30693685 single base substitution G A downstream_gene_variant MELA-AU 20 30693845 30693845 single base substitution G A downstream_gene_variant MELA-AU 20 30694325 30694325 single base substitution G A downstream_gene_variant MELA-AU 20 30694429 30694429 single base substitution A T downstream_gene_variant MELA-AU 20 30694632 30694632 single base substitution A C downstream_gene_variant MELA-AU 20 30694634 30694634 single base substitution C T downstream_gene_variant MELA-AU 20 30694655 30694655 single base substitution C T downstream_gene_variant ORCA-IN 20 30658236 30658236 single base substitution C A intron_variant ORCA-IN 20 30665834 30665834 deletion of <=200bp G - intron_variant ORCA-IN 20 30671717 30671717 single base substitution C T 3_prime_UTR_variant ORCA-IN 20 30671717 30671717 single base substitution C T stop_gained R163* 487C>T ORCA-IN 20 30671717 30671717 single base substitution C T stop_gained R164* 490C>T ORCA-IN 20 30671717 30671717 single base substitution C T stop_gained R165* 493C>T ORCA-IN 20 30671717 30671717 single base substitution C T stop_gained R184* 550C>T ORCA-IN 20 30671717 30671717 single base substitution C T stop_gained R185* 553C>T ORCA-IN 20 30677610 30677610 single base substitution G A intron_variant ORCA-IN 20 30679909 30679909 single base substitution C T intron_variant ORCA-IN 20 30681665 30681665 single base substitution G C splice_acceptor_variant ORCA-IN 20 30683710 30683710 single base substitution T A intron_variant ORCA-IN 20 30685283 30685283 single base substitution G A intron_variant OV-AU 20 30637580 30637580 single base substitution C A upstream_gene_variant OV-AU 20 30637590 30637590 single base substitution G A upstream_gene_variant OV-AU 20 30639447 30639447 single base substitution A G upstream_gene_variant OV-AU 20 30639673 30639673 single base substitution C T upstream_gene_variant OV-AU 20 30640537 30640537 single base substitution G A intron_variant OV-AU 20 30641349 30641349 single base substitution G A intron_variant OV-AU 20 30647182 30647182 single base substitution A C intron_variant OV-AU 20 30647864 30647864 single base substitution T C intron_variant OV-AU 20 30649412 30649412 single base substitution C T intron_variant OV-AU 20 30654370 30654370 single base substitution C A intron_variant OV-AU 20 30660729 30660729 single base substitution C T downstream_gene_variant OV-AU 20 30660729 30660729 single base substitution C T intron_variant OV-AU 20 30660731 30660731 single base substitution C T downstream_gene_variant OV-AU 20 30660731 30660731 single base substitution C T intron_variant OV-AU 20 30661437 30661437 single base substitution G C downstream_gene_variant OV-AU 20 30661437 30661437 single base substitution G C intron_variant OV-AU 20 30662027 30662027 single base substitution G A downstream_gene_variant OV-AU 20 30662027 30662027 single base substitution G A intron_variant OV-AU 20 30662370 30662370 single base substitution G T downstream_gene_variant OV-AU 20 30662370 30662370 single base substitution G T intron_variant OV-AU 20 30663180 30663180 single base substitution A G downstream_gene_variant OV-AU 20 30663180 30663180 single base substitution A G intron_variant OV-AU 20 30663561 30663561 single base substitution G T downstream_gene_variant OV-AU 20 30663561 30663561 single base substitution G T intron_variant OV-AU 20 30665416 30665416 single base substitution G A intron_variant OV-AU 20 30668853 30668853 single base substitution C G intron_variant OV-AU 20 30672041 30672041 single base substitution C T intron_variant OV-AU 20 30674030 30674030 single base substitution G T intron_variant OV-AU 20 30674517 30674517 single base substitution G A 3_prime_UTR_variant OV-AU 20 30674517 30674517 single base substitution G A missense_variant V286M 856G>A OV-AU 20 30674517 30674517 single base substitution G A missense_variant V287M 859G>A OV-AU 20 30674517 30674517 single base substitution G A missense_variant V288M 862G>A OV-AU 20 30674517 30674517 single base substitution G A missense_variant V307M 919G>A OV-AU 20 30674517 30674517 single base substitution G A missense_variant V308M 922G>A OV-AU 20 30680484 30680484 single base substitution C A intron_variant OV-AU 20 30681830 30681830 single base substitution C A intron_variant OV-AU 20 30685403 30685403 single base substitution A G intron_variant OV-AU 20 30685436 30685436 single base substitution G C intron_variant OV-AU 20 30686549 30686549 single base substitution C A intron_variant OV-AU 20 30690130 30690130 single base substitution A G downstream_gene_variant OV-AU 20 30691171 30691171 single base substitution G A downstream_gene_variant OV-AU 20 30692865 30692865 single base substitution G A downstream_gene_variant OV-AU 20 30692966 30692966 single base substitution G C downstream_gene_variant OV-AU 20 30693649 30693649 single base substitution A G downstream_gene_variant OV-AU 20 30693997 30693997 single base substitution G A downstream_gene_variant OV-US 20 30681801 30681801 single base substitution G A 3_prime_UTR_variant OV-US 20 30681801 30681801 single base substitution G A missense_variant E388K 1162G>A OV-US 20 30681801 30681801 single base substitution G A missense_variant E389K 1165G>A OV-US 20 30681801 30681801 single base substitution G A missense_variant E390K 1168G>A OV-US 20 30681801 30681801 single base substitution G A missense_variant E409K 1225G>A OV-US 20 30681801 30681801 single base substitution G A missense_variant E410K 1228G>A PACA-AU 20 30636575 30636575 single base substitution A G upstream_gene_variant PACA-AU 20 30641509 30641509 single base substitution G T intron_variant PACA-AU 20 30645538 30645538 single base substitution T G intron_variant PACA-AU 20 30646347 30646347 single base substitution A G intron_variant PACA-AU 20 30647112 30647112 single base substitution T C intron_variant PACA-AU 20 30648995 30648995 single base substitution C T intron_variant PACA-AU 20 30649074 30649074 single base substitution T A intron_variant PACA-AU 20 30649835 30649835 single base substitution G A intron_variant PACA-AU 20 30649863 30649863 single base substitution C T intron_variant PACA-AU 20 30652746 30652746 single base substitution G A intron_variant PACA-AU 20 30654266 30654266 single base substitution C T intron_variant PACA-AU 20 30654547 30654547 single base substitution T C intron_variant PACA-AU 20 30655595 30655595 single base substitution A T intron_variant PACA-AU 20 30656201 30656201 single base substitution T A intron_variant PACA-AU 20 30656202 30656202 insertion of <=200bp - A intron_variant PACA-AU 20 30656667 30656667 single base substitution A C intron_variant PACA-AU 20 30659373 30659373 single base substitution C T intron_variant PACA-AU 20 30661485 30661485 single base substitution C T downstream_gene_variant PACA-AU 20 30661485 30661485 single base substitution C T intron_variant PACA-AU 20 30662502 30662502 single base substitution G A 3_prime_UTR_variant PACA-AU 20 30662502 30662502 single base substitution G A downstream_gene_variant PACA-AU 20 30662502 30662502 single base substitution G A missense_variant V114I 340G>A PACA-AU 20 30662502 30662502 single base substitution G A missense_variant V115I 343G>A PACA-AU 20 30662502 30662502 single base substitution G A missense_variant V116I 346G>A PACA-AU 20 30662502 30662502 single base substitution G A missense_variant V135I 403G>A PACA-AU 20 30662502 30662502 single base substitution G A missense_variant V136I 406G>A PACA-AU 20 30664032 30664032 single base substitution G T downstream_gene_variant PACA-AU 20 30664032 30664032 single base substitution G T intron_variant PACA-AU 20 30664598 30664598 single base substitution C T downstream_gene_variant PACA-AU 20 30664598 30664598 single base substitution C T intron_variant PACA-AU 20 30664719 30664719 single base substitution C A downstream_gene_variant PACA-AU 20 30664719 30664719 single base substitution C A intron_variant PACA-AU 20 30665335 30665335 single base substitution T G downstream_gene_variant PACA-AU 20 30665335 30665335 single base substitution T G intron_variant PACA-AU 20 30669326 30669326 single base substitution C T intron_variant PACA-AU 20 30671042 30671042 single base substitution C A intron_variant PACA-AU 20 30671664 30671664 single base substitution C G intron_variant PACA-AU 20 30671747 30671747 single base substitution G A 3_prime_UTR_variant PACA-AU 20 30671747 30671747 single base substitution G A missense_variant V173M 517G>A PACA-AU 20 30671747 30671747 single base substitution G A missense_variant V174M 520G>A PACA-AU 20 30671747 30671747 single base substitution G A missense_variant V175M 523G>A PACA-AU 20 30671747 30671747 single base substitution G A missense_variant V194M 580G>A PACA-AU 20 30671747 30671747 single base substitution G A missense_variant V195M 583G>A PACA-AU 20 30671801 30671801 single base substitution C T 3_prime_UTR_variant PACA-AU 20 30671801 30671801 single base substitution C T stop_gained R191* 571C>T PACA-AU 20 30671801 30671801 single base substitution C T stop_gained R192* 574C>T PACA-AU 20 30671801 30671801 single base substitution C T stop_gained R193* 577C>T PACA-AU 20 30671801 30671801 single base substitution C T stop_gained R212* 634C>T PACA-AU 20 30671801 30671801 single base substitution C T stop_gained R213* 637C>T PACA-AU 20 30674194 30674194 single base substitution G A intron_variant PACA-AU 20 30675450 30675450 single base substitution T A intron_variant PACA-AU 20 30675664 30675664 single base substitution C A intron_variant PACA-AU 20 30680126 30680126 single base substitution T C intron_variant PACA-AU 20 30680920 30680920 single base substitution G C intron_variant PACA-AU 20 30682566 30682566 single base substitution A G intron_variant PACA-AU 20 30684272 30684272 single base substitution C T intron_variant PACA-AU 20 30684298 30684298 single base substitution G A intron_variant PACA-AU 20 30684920 30684920 insertion of <=200bp - A intron_variant PACA-AU 20 30685536 30685536 single base substitution A T intron_variant PACA-AU 20 30690836 30690836 single base substitution G A downstream_gene_variant PACA-AU 20 30692458 30692458 single base substitution A G downstream_gene_variant PACA-AU 20 30692771 30692771 single base substitution C A downstream_gene_variant PACA-AU 20 30693505 30693505 single base substitution G C downstream_gene_variant PACA-CA 20 30636000 30636000 single base substitution C T upstream_gene_variant PACA-CA 20 30639211 30639211 single base substitution C T upstream_gene_variant PACA-CA 20 30644728 30644728 single base substitution C T intron_variant PACA-CA 20 30647153 30647153 single base substitution C A intron_variant PACA-CA 20 30647299 30647300 deletion of <=200bp TC - intron_variant PACA-CA 20 30652695 30652695 single base substitution G A intron_variant PACA-CA 20 30653149 30653149 single base substitution C A intron_variant PACA-CA 20 30655803 30655803 single base substitution T A intron_variant PACA-CA 20 30656201 30656201 single base substitution T A intron_variant PACA-CA 20 30659389 30659389 single base substitution G T intron_variant PACA-CA 20 30659531 30659531 single base substitution C T 3_prime_UTR_variant PACA-CA 20 30659531 30659531 single base substitution C T exon_variant PACA-CA 20 30659531 30659531 single base substitution C T synonymous_variant S22S 66C>T PACA-CA 20 30659531 30659531 single base substitution C T synonymous_variant S23S 69C>T PACA-CA 20 30659531 30659531 single base substitution C T synonymous_variant S43S 129C>T PACA-CA 20 30660918 30660918 single base substitution C A downstream_gene_variant PACA-CA 20 30660918 30660918 single base substitution C A intron_variant PACA-CA 20 30661166 30661166 single base substitution T C downstream_gene_variant PACA-CA 20 30661166 30661166 single base substitution T C splice_donor_variant PACA-CA 20 30661312 30661312 single base substitution T C downstream_gene_variant PACA-CA 20 30661312 30661312 single base substitution T C intron_variant PACA-CA 20 30661394 30661394 single base substitution C T downstream_gene_variant PACA-CA 20 30661394 30661394 single base substitution C T intron_variant PACA-CA 20 30662496 30662496 single base substitution G A 3_prime_UTR_variant PACA-CA 20 30662496 30662496 single base substitution G A downstream_gene_variant PACA-CA 20 30662496 30662496 single base substitution G A missense_variant A112T 334G>A PACA-CA 20 30662496 30662496 single base substitution G A missense_variant A113T 337G>A PACA-CA 20 30662496 30662496 single base substitution G A missense_variant A114T 340G>A PACA-CA 20 30662496 30662496 single base substitution G A missense_variant A133T 397G>A PACA-CA 20 30662496 30662496 single base substitution G A missense_variant A134T 400G>A PACA-CA 20 30664043 30664043 single base substitution C T downstream_gene_variant PACA-CA 20 30664043 30664043 single base substitution C T intron_variant PACA-CA 20 30664886 30664886 insertion of <=200bp - A downstream_gene_variant PACA-CA 20 30664886 30664886 insertion of <=200bp - A intron_variant PACA-CA 20 30664935 30664935 single base substitution A G downstream_gene_variant PACA-CA 20 30664935 30664935 single base substitution A G intron_variant PACA-CA 20 30666808 30666808 single base substitution G A intron_variant PACA-CA 20 30672536 30672536 single base substitution C T intron_variant PACA-CA 20 30675382 30675382 single base substitution G A intron_variant PACA-CA 20 30676310 30676310 single base substitution T A intron_variant PACA-CA 20 30682617 30682618 deletion of <=200bp AA - intron_variant PACA-CA 20 30684076 30684076 single base substitution C T intron_variant PACA-CA 20 30690387 30690387 insertion of <=200bp - ATACATACATACATACATACATAC downstream_gene_variant PACA-CA 20 30690805 30690805 single base substitution C T downstream_gene_variant PACA-CA 20 30692456 30692456 single base substitution A G downstream_gene_variant PACA-CA 20 30693486 30693486 single base substitution A G downstream_gene_variant PACA-CA 20 30693584 30693584 single base substitution C T downstream_gene_variant PACA-CA 20 30693965 30693965 single base substitution C A downstream_gene_variant PAEN-AU 20 30661451 30661451 single base substitution G A downstream_gene_variant PAEN-AU 20 30661451 30661451 single base substitution G A intron_variant PAEN-AU 20 30693621 30693621 single base substitution T G downstream_gene_variant PAEN-IT 20 30640523 30640523 single base substitution A T intron_variant PAEN-IT 20 30682498 30682498 single base substitution A G intron_variant PAEN-IT 20 30682562 30682562 single base substitution A G intron_variant PBCA-DE 20 30635668 30635670 deletion of <=200bp AGT - upstream_gene_variant PBCA-DE 20 30647100 30647100 single base substitution C T intron_variant PBCA-DE 20 30649097 30649097 single base substitution T G intron_variant PBCA-DE 20 30649765 30649765 single base substitution C T intron_variant PBCA-DE 20 30684444 30684444 single base substitution A G intron_variant PBCA-DE 20 30684451 30684451 single base substitution C T intron_variant PBCA-DE 20 30684709 30684709 insertion of <=200bp - TA intron_variant PBCA-DE 20 30684709 30684710 deletion of <=200bp TA - intron_variant PBCA-DE 20 30693083 30693083 deletion of <=200bp C - downstream_gene_variant PBCA-DE 20 30693579 30693579 single base substitution A T downstream_gene_variant PBCA-DE 20 30693580 30693580 single base substitution A T downstream_gene_variant PBCA-DE 20 30693707 30693707 insertion of <=200bp - T downstream_gene_variant PBCA-DE 20 30693713 30693715 deletion of <=200bp AAG - downstream_gene_variant PRAD-CA 20 30646444 30646444 single base substitution T C intron_variant PRAD-CA 20 30647236 30647236 single base substitution T C intron_variant PRAD-CA 20 30647239 30647239 single base substitution C T intron_variant PRAD-CA 20 30648975 30648975 single base substitution C T intron_variant PRAD-CA 20 30665778 30665778 single base substitution G C intron_variant PRAD-CA 20 30685612 30685612 single base substitution C T intron_variant PRAD-CA 20 30690805 30690805 single base substitution C T downstream_gene_variant PRAD-UK 20 30642088 30642088 single base substitution C T intron_variant PRAD-UK 20 30642088 30642088 single base substitution C T splice_region_variant PRAD-UK 20 30642218 30642218 single base substitution G A intron_variant PRAD-UK 20 30642731 30642731 single base substitution A G intron_variant PRAD-UK 20 30650911 30650911 single base substitution C A intron_variant PRAD-UK 20 30650915 30650915 single base substitution C A intron_variant PRAD-UK 20 30656201 30656201 single base substitution T A intron_variant PRAD-UK 20 30662856 30662856 single base substitution T C downstream_gene_variant PRAD-UK 20 30662856 30662856 single base substitution T C intron_variant PRAD-UK 20 30671408 30671408 single base substitution G A intron_variant PRAD-UK 20 30671779 30671779 single base substitution C T 3_prime_UTR_variant PRAD-UK 20 30671779 30671779 single base substitution C T synonymous_variant N183N 549C>T PRAD-UK 20 30671779 30671779 single base substitution C T synonymous_variant N184N 552C>T PRAD-UK 20 30671779 30671779 single base substitution C T synonymous_variant N185N 555C>T PRAD-UK 20 30671779 30671779 single base substitution C T synonymous_variant N204N 612C>T PRAD-UK 20 30671779 30671779 single base substitution C T synonymous_variant N205N 615C>T PRAD-UK 20 30689231 30689231 single base substitution G A 3_prime_UTR_variant PRAD-UK 20 30689231 30689231 single base substitution G A missense_variant R475H 1424G>A PRAD-UK 20 30689231 30689231 single base substitution G A missense_variant R476H 1427G>A PRAD-UK 20 30689231 30689231 single base substitution G A missense_variant R477H 1430G>A PRAD-UK 20 30689231 30689231 single base substitution G A missense_variant R496H 1487G>A PRAD-UK 20 30689231 30689231 single base substitution G A missense_variant R497H 1490G>A PRAD-UK 20 30690835 30690835 single base substitution C T downstream_gene_variant RECA-EU 20 30647066 30647066 single base substitution A G intron_variant RECA-EU 20 30647104 30647104 single base substitution C T intron_variant RECA-EU 20 30647108 30647108 single base substitution C T intron_variant RECA-EU 20 30648205 30648205 single base substitution G C intron_variant RECA-EU 20 30648367 30648367 single base substitution C T intron_variant RECA-EU 20 30649286 30649286 single base substitution C A intron_variant RECA-EU 20 30652551 30652551 single base substitution A T intron_variant RECA-EU 20 30660879 30660879 single base substitution G T downstream_gene_variant RECA-EU 20 30660879 30660879 single base substitution G T intron_variant RECA-EU 20 30671425 30671425 single base substitution G T intron_variant RECA-EU 20 30674587 30674587 single base substitution T A 3_prime_UTR_variant RECA-EU 20 30674587 30674587 single base substitution T A missense_variant I309N 926T>A RECA-EU 20 30674587 30674587 single base substitution T A missense_variant I310N 929T>A RECA-EU 20 30674587 30674587 single base substitution T A missense_variant I311N 932T>A RECA-EU 20 30674587 30674587 single base substitution T A missense_variant I330N 989T>A RECA-EU 20 30674587 30674587 single base substitution T A missense_variant I331N 992T>A RECA-EU 20 30687465 30687465 single base substitution C A intron_variant SKCA-BR 20 30635345 30635345 single base substitution G A upstream_gene_variant SKCA-BR 20 30636072 30636072 single base substitution T A upstream_gene_variant SKCA-BR 20 30636256 30636256 single base substitution T A upstream_gene_variant SKCA-BR 20 30636669 30636669 single base substitution C T upstream_gene_variant SKCA-BR 20 30636717 30636717 single base substitution G A upstream_gene_variant SKCA-BR 20 30639641 30639641 single base substitution C T upstream_gene_variant SKCA-BR 20 30640410 30640410 single base substitution C T intron_variant SKCA-BR 20 30640598 30640598 single base substitution G A intron_variant SKCA-BR 20 30640607 30640607 single base substitution T G intron_variant SKCA-BR 20 30643770 30643770 single base substitution C T intron_variant SKCA-BR 20 30644227 30644227 single base substitution G A intron_variant SKCA-BR 20 30644320 30644320 insertion of <=200bp - GA intron_variant SKCA-BR 20 30645074 30645074 single base substitution C T intron_variant SKCA-BR 20 30645093 30645093 single base substitution T A intron_variant SKCA-BR 20 30646333 30646333 insertion of <=200bp - CA intron_variant SKCA-BR 20 30646444 30646444 single base substitution T C intron_variant SKCA-BR 20 30647082 30647082 insertion of <=200bp - TCTTCCTTC intron_variant SKCA-BR 20 30647809 30647809 single base substitution G A intron_variant SKCA-BR 20 30651322 30651322 single base substitution G A intron_variant SKCA-BR 20 30652192 30652192 single base substitution C A intron_variant SKCA-BR 20 30652541 30652541 single base substitution C T intron_variant SKCA-BR 20 30653510 30653510 single base substitution C T intron_variant SKCA-BR 20 30654761 30654761 single base substitution C G intron_variant SKCA-BR 20 30654858 30654858 single base substitution G A intron_variant SKCA-BR 20 30655321 30655321 single base substitution C T intron_variant SKCA-BR 20 30655334 30655334 insertion of <=200bp - CT intron_variant SKCA-BR 20 30655869 30655869 single base substitution G A intron_variant SKCA-BR 20 30656209 30656209 single base substitution G A intron_variant SKCA-BR 20 30657332 30657332 single base substitution C T intron_variant SKCA-BR 20 30660365 30660374 deletion of <=200bp TTAAAAAAAA - exon_variant SKCA-BR 20 30660365 30660374 deletion of <=200bp TTAAAAAAAA - intron_variant SKCA-BR 20 30661807 30661807 single base substitution C G downstream_gene_variant SKCA-BR 20 30661807 30661807 single base substitution C G intron_variant SKCA-BR 20 30661944 30661944 single base substitution C T downstream_gene_variant SKCA-BR 20 30661944 30661944 single base substitution C T intron_variant SKCA-BR 20 30661995 30661995 single base substitution G A downstream_gene_variant SKCA-BR 20 30661995 30661995 single base substitution G A intron_variant SKCA-BR 20 30662302 30662302 single base substitution C T downstream_gene_variant SKCA-BR 20 30662302 30662302 single base substitution C T intron_variant SKCA-BR 20 30662303 30662303 single base substitution C T downstream_gene_variant SKCA-BR 20 30662303 30662303 single base substitution C T intron_variant SKCA-BR 20 30662836 30662836 single base substitution G A downstream_gene_variant SKCA-BR 20 30662836 30662836 single base substitution G A intron_variant SKCA-BR 20 30663509 30663509 insertion of <=200bp - TCATC downstream_gene_variant SKCA-BR 20 30663509 30663509 insertion of <=200bp - TCATC intron_variant SKCA-BR 20 30663923 30663923 single base substitution C T downstream_gene_variant SKCA-BR 20 30663923 30663923 single base substitution C T intron_variant SKCA-BR 20 30664582 30664582 single base substitution A G downstream_gene_variant SKCA-BR 20 30664582 30664582 single base substitution A G intron_variant SKCA-BR 20 30664659 30664659 single base substitution G A downstream_gene_variant SKCA-BR 20 30664659 30664659 single base substitution G A intron_variant SKCA-BR 20 30665314 30665319 deletion of <=200bp CTGTTT - downstream_gene_variant SKCA-BR 20 30665314 30665319 deletion of <=200bp CTGTTT - intron_variant SKCA-BR 20 30666079 30666079 single base substitution A C intron_variant SKCA-BR 20 30666083 30666083 single base substitution C T intron_variant SKCA-BR 20 30666270 30666270 single base substitution G A intron_variant SKCA-BR 20 30666537 30666537 single base substitution G T intron_variant SKCA-BR 20 30666649 30666649 single base substitution G A intron_variant SKCA-BR 20 30666683 30666683 single base substitution G A intron_variant SKCA-BR 20 30668473 30668473 single base substitution C T intron_variant SKCA-BR 20 30674071 30674071 single base substitution C T intron_variant SKCA-BR 20 30675996 30675996 single base substitution T C intron_variant SKCA-BR 20 30678566 30678566 single base substitution C T intron_variant SKCA-BR 20 30679785 30679785 insertion of <=200bp - GA intron_variant SKCA-BR 20 30680789 30680789 single base substitution C T intron_variant SKCA-BR 20 30681530 30681530 single base substitution C T intron_variant SKCA-BR 20 30681546 30681546 single base substitution G A intron_variant SKCA-BR 20 30681644 30681644 single base substitution G A intron_variant SKCA-BR 20 30681684 30681684 single base substitution T C 3_prime_UTR_variant SKCA-BR 20 30681684 30681684 single base substitution T C missense_variant F349L 1045T>C SKCA-BR 20 30681684 30681684 single base substitution T C missense_variant F350L 1048T>C SKCA-BR 20 30681684 30681684 single base substitution T C missense_variant F351L 1051T>C SKCA-BR 20 30681684 30681684 single base substitution T C missense_variant F370L 1108T>C SKCA-BR 20 30681684 30681684 single base substitution T C missense_variant F371L 1111T>C SKCA-BR 20 30681996 30681996 single base substitution A G intron_variant SKCA-BR 20 30682590 30682594 deletion of <=200bp GAGAA - intron_variant SKCA-BR 20 30682771 30682771 single base substitution C T intron_variant SKCA-BR 20 30683323 30683323 single base substitution C T intron_variant SKCA-BR 20 30684830 30684830 single base substitution C T intron_variant SKCA-BR 20 30687838 30687838 single base substitution G A intron_variant SKCA-BR 20 30689670 30689670 single base substitution C T downstream_gene_variant SKCA-BR 20 30691006 30691006 insertion of <=200bp - AGCTGGGGGCTGCCTCCAGG downstream_gene_variant SKCA-BR 20 30691937 30691937 single base substitution T C downstream_gene_variant SKCA-BR 20 30692051 30692051 single base substitution G A downstream_gene_variant SKCA-BR 20 30692971 30692971 single base substitution G A downstream_gene_variant SKCA-BR 20 30693476 30693476 single base substitution G A downstream_gene_variant SKCA-BR 20 30693481 30693481 single base substitution A G downstream_gene_variant SKCA-BR 20 30694108 30694108 single base substitution G A downstream_gene_variant SKCM-US 20 30659483 30659483 single base substitution C T 3_prime_UTR_variant SKCM-US 20 30659483 30659483 single base substitution C T exon_variant SKCM-US 20 30659483 30659483 single base substitution C T synonymous_variant S27S 81C>T SKCM-US 20 30659483 30659483 single base substitution C T synonymous_variant S6S 18C>T SKCM-US 20 30659483 30659483 single base substitution C T synonymous_variant S7S 21C>T SKCM-US 20 30659560 30659560 single base substitution C G 3_prime_UTR_variant SKCM-US 20 30659560 30659560 single base substitution C G exon_variant SKCM-US 20 30659560 30659560 single base substitution C G missense_variant P32R 95C>G SKCM-US 20 30659560 30659560 single base substitution C G missense_variant P33R 98C>G SKCM-US 20 30659560 30659560 single base substitution C G missense_variant P53R 158C>G SKCM-US 20 30662441 30662441 single base substitution G A 3_prime_UTR_variant SKCM-US 20 30662441 30662441 single base substitution G A downstream_gene_variant SKCM-US 20 30662441 30662441 single base substitution G A stop_gained W114* 342G>A SKCM-US 20 30662441 30662441 single base substitution G A stop_gained W115* 345G>A SKCM-US 20 30662441 30662441 single base substitution G A stop_gained W93* 279G>A SKCM-US 20 30662441 30662441 single base substitution G A stop_gained W94* 282G>A SKCM-US 20 30662441 30662441 single base substitution G A stop_gained W95* 285G>A SKCM-US 20 30662496 30662496 single base substitution G A 3_prime_UTR_variant SKCM-US 20 30662496 30662496 single base substitution G A downstream_gene_variant SKCM-US 20 30662496 30662496 single base substitution G A missense_variant A112T 334G>A SKCM-US 20 30662496 30662496 single base substitution G A missense_variant A113T 337G>A SKCM-US 20 30662496 30662496 single base substitution G A missense_variant A114T 340G>A SKCM-US 20 30662496 30662496 single base substitution G A missense_variant A133T 397G>A SKCM-US 20 30662496 30662496 single base substitution G A missense_variant A134T 400G>A SKCM-US 20 30667604 30667604 single base substitution G A 3_prime_UTR_variant SKCM-US 20 30667604 30667604 single base substitution G A synonymous_variant K130K 390G>A SKCM-US 20 30667604 30667604 single base substitution G A synonymous_variant K131K 393G>A SKCM-US 20 30667604 30667604 single base substitution G A synonymous_variant K132K 396G>A SKCM-US 20 30667604 30667604 single base substitution G A synonymous_variant K151K 453G>A SKCM-US 20 30667604 30667604 single base substitution G A synonymous_variant K152K 456G>A SKCM-US 20 30671706 30671706 single base substitution C T 3_prime_UTR_variant SKCM-US 20 30671706 30671706 single base substitution C T missense_variant S159F 476C>T SKCM-US 20 30671706 30671706 single base substitution C T missense_variant S160F 479C>T SKCM-US 20 30671706 30671706 single base substitution C T missense_variant S161F 482C>T SKCM-US 20 30671706 30671706 single base substitution C T missense_variant S180F 539C>T SKCM-US 20 30671706 30671706 single base substitution C T missense_variant S181F 542C>T SKCM-US 20 30671796 30671796 single base substitution C T 3_prime_UTR_variant SKCM-US 20 30671796 30671796 single base substitution C T missense_variant S189F 566C>T SKCM-US 20 30671796 30671796 single base substitution C T missense_variant S190F 569C>T SKCM-US 20 30671796 30671796 single base substitution C T missense_variant S191F 572C>T SKCM-US 20 30671796 30671796 single base substitution C T missense_variant S210F 629C>T SKCM-US 20 30671796 30671796 single base substitution C T missense_variant S211F 632C>T SKCM-US 20 30671804 30671804 single base substitution A C 3_prime_UTR_variant SKCM-US 20 30671804 30671804 single base substitution A C missense_variant S192R 574A>C SKCM-US 20 30671804 30671804 single base substitution A C missense_variant S193R 577A>C SKCM-US 20 30671804 30671804 single base substitution A C missense_variant S194R 580A>C SKCM-US 20 30671804 30671804 single base substitution A C missense_variant S213R 637A>C SKCM-US 20 30671804 30671804 single base substitution A C missense_variant S214R 640A>C SKCM-US 20 30672196 30672196 single base substitution G A missense_variant G207R 619G>A SKCM-US 20 30672196 30672196 single base substitution G A missense_variant G208R 622G>A SKCM-US 20 30672196 30672196 single base substitution G A missense_variant G209R 625G>A SKCM-US 20 30672196 30672196 single base substitution G A missense_variant G228R 682G>A SKCM-US 20 30672196 30672196 single base substitution G A missense_variant G229R 685G>A SKCM-US 20 30672196 30672196 single base substitution G A splice_region_variant SKCM-US 20 30672208 30672208 single base substitution C T 3_prime_UTR_variant SKCM-US 20 30672208 30672208 single base substitution C T missense_variant L211F 631C>T SKCM-US 20 30672208 30672208 single base substitution C T missense_variant L212F 634C>T SKCM-US 20 30672208 30672208 single base substitution C T missense_variant L213F 637C>T SKCM-US 20 30672208 30672208 single base substitution C T missense_variant L232F 694C>T SKCM-US 20 30672208 30672208 single base substitution C T missense_variant L233F 697C>T SKCM-US 20 30672231 30672231 single base substitution C T 3_prime_UTR_variant SKCM-US 20 30672231 30672231 single base substitution C T synonymous_variant P218P 654C>T SKCM-US 20 30672231 30672231 single base substitution C T synonymous_variant P219P 657C>T SKCM-US 20 30672231 30672231 single base substitution C T synonymous_variant P220P 660C>T SKCM-US 20 30672231 30672231 single base substitution C T synonymous_variant P239P 717C>T SKCM-US 20 30672231 30672231 single base substitution C T synonymous_variant P240P 720C>T SKCM-US 20 30672286 30672286 single base substitution C T 3_prime_UTR_variant SKCM-US 20 30672286 30672286 single base substitution C T missense_variant R237W 709C>T SKCM-US 20 30672286 30672286 single base substitution C T missense_variant R238W 712C>T SKCM-US 20 30672286 30672286 single base substitution C T missense_variant R239W 715C>T SKCM-US 20 30672286 30672286 single base substitution C T missense_variant R258W 772C>T SKCM-US 20 30672286 30672286 single base substitution C T missense_variant R259W 775C>T SKCM-US 20 30672294 30672294 single base substitution C T 3_prime_UTR_variant SKCM-US 20 30672294 30672294 single base substitution C T synonymous_variant S239S 717C>T SKCM-US 20 30672294 30672294 single base substitution C T synonymous_variant S240S 720C>T SKCM-US 20 30672294 30672294 single base substitution C T synonymous_variant S241S 723C>T SKCM-US 20 30672294 30672294 single base substitution C T synonymous_variant S260S 780C>T SKCM-US 20 30672294 30672294 single base substitution C T synonymous_variant S261S 783C>T SKCM-US 20 30672323 30672323 single base substitution G A 3_prime_UTR_variant SKCM-US 20 30672323 30672323 single base substitution G A missense_variant G249E 746G>A SKCM-US 20 30672323 30672323 single base substitution G A missense_variant G250E 749G>A SKCM-US 20 30672323 30672323 single base substitution G A missense_variant G251E 752G>A SKCM-US 20 30672323 30672323 single base substitution G A missense_variant G270E 809G>A SKCM-US 20 30672323 30672323 single base substitution G A missense_variant G271E 812G>A SKCM-US 20 30674488 30674488 single base substitution C T 3_prime_UTR_variant SKCM-US 20 30674488 30674488 single base substitution C T missense_variant S276L 827C>T SKCM-US 20 30674488 30674488 single base substitution C T missense_variant S277L 830C>T SKCM-US 20 30674488 30674488 single base substitution C T missense_variant S278L 833C>T SKCM-US 20 30674488 30674488 single base substitution C T missense_variant S297L 890C>T SKCM-US 20 30674488 30674488 single base substitution C T missense_variant S298L 893C>T SKCM-US 20 30674574 30674574 single base substitution G A 3_prime_UTR_variant SKCM-US 20 30674574 30674574 single base substitution G A missense_variant E305K 913G>A SKCM-US 20 30674574 30674574 single base substitution G A missense_variant E306K 916G>A SKCM-US 20 30674574 30674574 single base substitution G A missense_variant E307K 919G>A SKCM-US 20 30674574 30674574 single base substitution G A missense_variant E326K 976G>A SKCM-US 20 30674574 30674574 single base substitution G A missense_variant E327K 979G>A SKCM-US 20 30674595 30674595 single base substitution G A 3_prime_UTR_variant SKCM-US 20 30674595 30674595 single base substitution G A missense_variant E312K 934G>A SKCM-US 20 30674595 30674595 single base substitution G A missense_variant E313K 937G>A SKCM-US 20 30674595 30674595 single base substitution G A missense_variant E314K 940G>A SKCM-US 20 30674595 30674595 single base substitution G A missense_variant E333K 997G>A SKCM-US 20 30674595 30674595 single base substitution G A missense_variant E334K 1000G>A SKCM-US 20 30686817 30686817 single base substitution C T 3_prime_UTR_variant SKCM-US 20 30686817 30686817 single base substitution C T synonymous_variant F397F 1191C>T SKCM-US 20 30686817 30686817 single base substitution C T synonymous_variant F398F 1194C>T SKCM-US 20 30686817 30686817 single base substitution C T synonymous_variant F399F 1197C>T SKCM-US 20 30686817 30686817 single base substitution C T synonymous_variant F418F 1254C>T SKCM-US 20 30686817 30686817 single base substitution C T synonymous_variant F419F 1257C>T SKCM-US 20 30686836 30686836 single base substitution C T 3_prime_UTR_variant SKCM-US 20 30686836 30686836 single base substitution C T missense_variant P404S 1210C>T SKCM-US 20 30686836 30686836 single base substitution C T missense_variant P405S 1213C>T SKCM-US 20 30686836 30686836 single base substitution C T missense_variant P406S 1216C>T SKCM-US 20 30686836 30686836 single base substitution C T missense_variant P425S 1273C>T SKCM-US 20 30686836 30686836 single base substitution C T missense_variant P426S 1276C>T SKCM-US 20 30686916 30686916 single base substitution C T 3_prime_UTR_variant SKCM-US 20 30686916 30686916 single base substitution C T synonymous_variant T430T 1290C>T SKCM-US 20 30686916 30686916 single base substitution C T synonymous_variant T431T 1293C>T SKCM-US 20 30686916 30686916 single base substitution C T synonymous_variant T432T 1296C>T SKCM-US 20 30686916 30686916 single base substitution C T synonymous_variant T451T 1353C>T SKCM-US 20 30686916 30686916 single base substitution C T synonymous_variant T452T 1356C>T SKCM-US 20 30686936 30686936 single base substitution C T missense_variant P437L 1310C>T SKCM-US 20 30686936 30686936 single base substitution C T missense_variant P438L 1313C>T SKCM-US 20 30686936 30686936 single base substitution C T missense_variant P439L 1316C>T SKCM-US 20 30686936 30686936 single base substitution C T missense_variant P458L 1373C>T SKCM-US 20 30686936 30686936 single base substitution C T missense_variant P459L 1376C>T SKCM-US 20 30686936 30686936 single base substitution C T splice_region_variant SKCM-US 20 30689246 30689246 single base substitution C T 3_prime_UTR_variant SKCM-US 20 30689246 30689246 single base substitution C T missense_variant P480L 1439C>T SKCM-US 20 30689246 30689246 single base substitution C T missense_variant P481L 1442C>T SKCM-US 20 30689246 30689246 single base substitution C T missense_variant P482L 1445C>T SKCM-US 20 30689246 30689246 single base substitution C T missense_variant P501L 1502C>T SKCM-US 20 30689246 30689246 single base substitution C T missense_variant P502L 1505C>T SKCM-US 20 30689321 30689321 single base substitution G A 3_prime_UTR_variant SKCM-US 20 30689321 30689321 single base substitution G A stop_retained_variant *505* 1514G>A SKCM-US 20 30689321 30689321 single base substitution G A stop_retained_variant *506* 1517G>A SKCM-US 20 30689321 30689321 single base substitution G A stop_retained_variant *507* 1520G>A SKCM-US 20 30689321 30689321 single base substitution G A stop_retained_variant *526* 1577G>A SKCM-US 20 30689321 30689321 single base substitution G A stop_retained_variant *527* 1580G>A STAD-US 20 30659469 30659469 single base substitution G A 3_prime_UTR_variant STAD-US 20 30659469 30659469 single base substitution G A exon_variant STAD-US 20 30659469 30659469 single base substitution G A missense_variant G23R 67G>A STAD-US 20 30659469 30659469 single base substitution G A missense_variant G2R 4G>A STAD-US 20 30659469 30659469 single base substitution G A missense_variant G3R 7G>A STAD-US 20 30671747 30671747 single base substitution G A 3_prime_UTR_variant STAD-US 20 30671747 30671747 single base substitution G A missense_variant V173M 517G>A STAD-US 20 30671747 30671747 single base substitution G A missense_variant V174M 520G>A STAD-US 20 30671747 30671747 single base substitution G A missense_variant V175M 523G>A STAD-US 20 30671747 30671747 single base substitution G A missense_variant V194M 580G>A STAD-US 20 30671747 30671747 single base substitution G A missense_variant V195M 583G>A STAD-US 20 30671779 30671779 single base substitution C T 3_prime_UTR_variant STAD-US 20 30671779 30671779 single base substitution C T synonymous_variant N183N 549C>T STAD-US 20 30671779 30671779 single base substitution C T synonymous_variant N184N 552C>T STAD-US 20 30671779 30671779 single base substitution C T synonymous_variant N185N 555C>T STAD-US 20 30671779 30671779 single base substitution C T synonymous_variant N204N 612C>T STAD-US 20 30671779 30671779 single base substitution C T synonymous_variant N205N 615C>T STAD-US 20 30671801 30671801 single base substitution C T 3_prime_UTR_variant STAD-US 20 30671801 30671801 single base substitution C T stop_gained R191* 571C>T STAD-US 20 30671801 30671801 single base substitution C T stop_gained R192* 574C>T STAD-US 20 30671801 30671801 single base substitution C T stop_gained R193* 577C>T STAD-US 20 30671801 30671801 single base substitution C T stop_gained R212* 634C>T STAD-US 20 30671801 30671801 single base substitution C T stop_gained R213* 637C>T STAD-US 20 30672331 30672331 single base substitution G A 3_prime_UTR_variant STAD-US 20 30672331 30672331 single base substitution G A missense_variant G252R 754G>A STAD-US 20 30672331 30672331 single base substitution G A missense_variant G253R 757G>A STAD-US 20 30672331 30672331 single base substitution G A missense_variant G254R 760G>A STAD-US 20 30672331 30672331 single base substitution G A missense_variant G273R 817G>A STAD-US 20 30672331 30672331 single base substitution G A missense_variant G274R 820G>A STAD-US 20 30674564 30674564 single base substitution G A 3_prime_UTR_variant STAD-US 20 30674564 30674564 single base substitution G A synonymous_variant V301V 903G>A STAD-US 20 30674564 30674564 single base substitution G A synonymous_variant V302V 906G>A STAD-US 20 30674564 30674564 single base substitution G A synonymous_variant V303V 909G>A STAD-US 20 30674564 30674564 single base substitution G A synonymous_variant V322V 966G>A STAD-US 20 30674564 30674564 single base substitution G A synonymous_variant V323V 969G>A STAD-US 20 30681809 30681809 single base substitution G T 3_prime_UTR_variant STAD-US 20 30681809 30681809 single base substitution G T synonymous_variant T390T 1170G>T STAD-US 20 30681809 30681809 single base substitution G T synonymous_variant T391T 1173G>T STAD-US 20 30681809 30681809 single base substitution G T synonymous_variant T392T 1176G>T STAD-US 20 30681809 30681809 single base substitution G T synonymous_variant T411T 1233G>T STAD-US 20 30681809 30681809 single base substitution G T synonymous_variant T412T 1236G>T STAD-US 20 30686829 30686829 single base substitution G A 3_prime_UTR_variant STAD-US 20 30686829 30686829 single base substitution G A stop_gained W401* 1203G>A STAD-US 20 30686829 30686829 single base substitution G A stop_gained W402* 1206G>A STAD-US 20 30686829 30686829 single base substitution G A stop_gained W403* 1209G>A STAD-US 20 30686829 30686829 single base substitution G A stop_gained W422* 1266G>A STAD-US 20 30686829 30686829 single base substitution G A stop_gained W423* 1269G>A STAD-US 20 30689165 30689165 single base substitution G A 3_prime_UTR_variant STAD-US 20 30689165 30689165 single base substitution G A missense_variant R453Q 1358G>A STAD-US 20 30689165 30689165 single base substitution G A missense_variant R454Q 1361G>A STAD-US 20 30689165 30689165 single base substitution G A missense_variant R455Q 1364G>A STAD-US 20 30689165 30689165 single base substitution G A missense_variant R474Q 1421G>A STAD-US 20 30689165 30689165 single base substitution G A missense_variant R475Q 1424G>A STAD-US 20 30689272 30689272 single base substitution C T 3_prime_UTR_variant STAD-US 20 30689272 30689272 single base substitution C T synonymous_variant L489L 1465C>T STAD-US 20 30689272 30689272 single base substitution C T synonymous_variant L490L 1468C>T STAD-US 20 30689272 30689272 single base substitution C T synonymous_variant L491L 1471C>T STAD-US 20 30689272 30689272 single base substitution C T synonymous_variant L510L 1528C>T STAD-US 20 30689272 30689272 single base substitution C T synonymous_variant L511L 1531C>T THCA-SA 20 30640230 30640230 deletion of <=200bp G - 5_prime_UTR_variant THCA-SA 20 30640230 30640230 deletion of <=200bp G - exon_variant THCA-SA 20 30640230 30640230 deletion of <=200bp G - frameshift_variant L1 UCEC-US 20 30661571 30661571 single base substitution C A 3_prime_UTR_variant UCEC-US 20 30661571 30661571 single base substitution C A downstream_gene_variant UCEC-US 20 30661571 30661571 single base substitution C A missense_variant H71Q 213C>A UCEC-US 20 30661571 30661571 single base substitution C A missense_variant H72Q 216C>A UCEC-US 20 30661571 30661571 single base substitution C A missense_variant H73Q 219C>A UCEC-US 20 30661571 30661571 single base substitution C A missense_variant H92Q 276C>A UCEC-US 20 30661571 30661571 single base substitution C A missense_variant H93Q 279C>A UCEC-US 20 30662509 30662509 single base substitution C A 3_prime_UTR_variant UCEC-US 20 30662509 30662509 single base substitution C A downstream_gene_variant UCEC-US 20 30662509 30662509 single base substitution C A missense_variant S116Y 347C>A UCEC-US 20 30662509 30662509 single base substitution C A missense_variant S117Y 350C>A UCEC-US 20 30662509 30662509 single base substitution C A missense_variant S118Y 353C>A UCEC-US 20 30662509 30662509 single base substitution C A missense_variant S137Y 410C>A UCEC-US 20 30662509 30662509 single base substitution C A missense_variant S138Y 413C>A UCEC-US 20 30671713 30671713 single base substitution C T 3_prime_UTR_variant UCEC-US 20 30671713 30671713 single base substitution C T synonymous_variant S161S 483C>T UCEC-US 20 30671713 30671713 single base substitution C T synonymous_variant S162S 486C>T UCEC-US 20 30671713 30671713 single base substitution C T synonymous_variant S163S 489C>T UCEC-US 20 30671713 30671713 single base substitution C T synonymous_variant S182S 546C>T UCEC-US 20 30671713 30671713 single base substitution C T synonymous_variant S183S 549C>T UCEC-US 20 30672286 30672286 single base substitution C T 3_prime_UTR_variant UCEC-US 20 30672286 30672286 single base substitution C T missense_variant R237W 709C>T UCEC-US 20 30672286 30672286 single base substitution C T missense_variant R238W 712C>T UCEC-US 20 30672286 30672286 single base substitution C T missense_variant R239W 715C>T UCEC-US 20 30672286 30672286 single base substitution C T missense_variant R258W 772C>T UCEC-US 20 30672286 30672286 single base substitution C T missense_variant R259W 775C>T UCEC-US 20 30672293 30672293 single base substitution C A 3_prime_UTR_variant UCEC-US 20 30672293 30672293 single base substitution C A missense_variant S239Y 716C>A UCEC-US 20 30672293 30672293 single base substitution C A missense_variant S240Y 719C>A UCEC-US 20 30672293 30672293 single base substitution C A missense_variant S241Y 722C>A UCEC-US 20 30672293 30672293 single base substitution C A missense_variant S260Y 779C>A UCEC-US 20 30672293 30672293 single base substitution C A missense_variant S261Y 782C>A UCEC-US 20 30672295 30672295 single base substitution C A 3_prime_UTR_variant UCEC-US 20 30672295 30672295 single base substitution C A missense_variant L240I 718C>A UCEC-US 20 30672295 30672295 single base substitution C A missense_variant L241I 721C>A UCEC-US 20 30672295 30672295 single base substitution C A missense_variant L242I 724C>A UCEC-US 20 30672295 30672295 single base substitution C A missense_variant L261I 781C>A UCEC-US 20 30672295 30672295 single base substitution C A missense_variant L262I 784C>A UCEC-US 20 30676429 30676429 single base substitution C T 3_prime_UTR_variant UCEC-US 20 30676429 30676429 single base substitution C T synonymous_variant L336L 1008C>T UCEC-US 20 30676429 30676429 single base substitution C T synonymous_variant L337L 1011C>T UCEC-US 20 30676429 30676429 single base substitution C T synonymous_variant L338L 1014C>T UCEC-US 20 30676429 30676429 single base substitution C T synonymous_variant L357L 1071C>T UCEC-US 20 30676429 30676429 single base substitution C T synonymous_variant L358L 1074C>T UCEC-US 20 30681808 30681808 single base substitution C A 3_prime_UTR_variant UCEC-US 20 30681808 30681808 single base substitution C A missense_variant T390K 1169C>A UCEC-US 20 30681808 30681808 single base substitution C A missense_variant T391K 1172C>A UCEC-US 20 30681808 30681808 single base substitution C A missense_variant T392K 1175C>A UCEC-US 20 30681808 30681808 single base substitution C A missense_variant T411K 1232C>A UCEC-US 20 30681808 30681808 single base substitution C A missense_variant T412K 1235C>A UCEC-US 20 30689174 30689174 single base substitution G A 3_prime_UTR_variant UCEC-US 20 30689174 30689174 single base substitution G A missense_variant R456H 1367G>A UCEC-US 20 30689174 30689174 single base substitution G A missense_variant R457H 1370G>A UCEC-US 20 30689174 30689174 single base substitution G A missense_variant R458H 1373G>A UCEC-US 20 30689174 30689174 single base substitution G A missense_variant R477H 1430G>A UCEC-US 20 30689174 30689174 single base substitution G A missense_variant R478H 1433G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 8067938 COSM1743470 c.583G>A p.V195M Substitution - Missense 20:32083944-32083944 + CHC891T COSM4953466 c.1569A>G p.Q523Q Substitution - coding silent 20:32101507-32101507 + STC246 COSM4097490 c.1173G>T p.T391T Substitution - coding silent 20:32094006-32094006 + TCGA-EE-A2MF-06 COSM4529040 c.1517G>A p.*506* Substitution - coding silent 20:32101518-32101518 + PTC_285 COSM1411007 c.3delG p.R4fs*22 Deletion - Frameshift 20:32052427-32052427 + TCGA-EE-A2MR-06 COSM3545179 c.812G>A p.G271E Substitution - Missense 20:32084520-32084520 + AOCS-060-1-5 COSM4136810 c.922G>A p.V308M Substitution - Missense 20:32086714-32086714 + TCGA-A5-A0VQ-01 COSM1025653 c.279C>A p.H93Q Substitution - Missense 20:32073768-32073768 + CHC892T COSM4960697 c.1067C>T p.P356L Substitution - Missense 20:32088619-32088619 + TCGA-HU-A4G8-01 COSM4097494 c.1361G>A p.R454Q Substitution - Missense 20:32101362-32101362 + HCC118T COSM5813803 c.1505A>T p.Q502L Substitution - Missense 20:32101506-32101506 + TCGA-BR-4256-01 COSM4097481 c.67G>A p.G23R Substitution - Missense 20:32071666-32071666 + TCGA-CM-4743-01 COSM296913 c.2_3insG p.R4fs*38 Insertion - Frameshift 20:32052426-32052427 + TCGA-60-2723-01 COSM723151 c.1382G>T p.C461F Substitution - Missense 20:32101383-32101383 + TCGA-CM-6163-01 COSM1411008 c.405C>T p.R135R Substitution - coding silent 20:32074698-32074698 + CSCC-7-T COSM4526766 c.1418G>A p.G473E Substitution - Missense 20:32101356-32101356 + PCSI_0124_Pa_P COSM3378975 c.129C>T p.S43S Substitution - coding silent 20:32071728-32071728 + YUKLAB COSM1713321 c.562G>A p.D188N Substitution - Missense 20:32083923-32083923 + sysucc-834T COSM5486128 c.421G>A p.G141S Substitution - Missense 20:32079829-32079829 + ESCC-001T COSM3939295 c.630C>T p.D210D Substitution - coding silent 20:32084401-32084401 + 2492723 COSM5724376 c.795G>A p.K265K Substitution - coding silent 20:32086650-32086650 + SNU-C2B COSM4615304 c.240delG p.D82fs*6 Deletion - Frameshift 20:32073792-32073792 + TCGA-A5-A0GP-01 COSM1025674 c.1235C>A p.T412K Substitution - Missense 20:32094005-32094005 + C086 COSM5532174 c.760G>A p.E254K Substitution - Missense 20:32084531-32084531 + U2932 COSM1580986 c.664C>A p.L222M Substitution - Missense 20:32084025-32084025 + 2492721 COSM5724376 c.795G>A p.K265K Substitution - coding silent 20:32086650-32086650 + 1_PRE-TREATMENT COSM1719034 c.1419G>A p.W473* Substitution - Nonsense 20:32101420-32101420 + CHC433T COSM3766617 c.72C>T p.S24S Substitution - coding silent 20:32071734-32071734 + TCGA-D3-A51R-06 COSM3545176 c.657C>T p.P219P Substitution - coding silent 20:32084428-32084428 + 8067938 COSM1743471 c.520G>A p.V174M Substitution - Missense 20:32083944-32083944 + 16835 COSM48416 c.1045G>T p.A349S Substitution - Missense 20:32093878-32093878 + TCGA-HU-8602-01 COSM4097495 c.1531C>T p.L511L Substitution - coding silent 20:32101469-32101469 + TCGA-AZ-4315-01 COSM1411018 c.893C>T p.S298L Substitution - Missense 20:32086685-32086685 + B105-1-Tumor COSM1751378 c.404G>A p.R135H Substitution - Missense 20:32079812-32079812 + sysucc-834T COSM5486127 c.484G>A p.G162S Substitution - Missense 20:32079829-32079829 + TCGA-BS-A0UF-01 COSM1025670 c.721C>A p.L241I Substitution - Missense 20:32084492-32084492 + TCGA-D5-6932-01 COSM1411015 c.574C>T p.R192* Substitution - Nonsense 20:32083998-32083998 + TCGA-D5-6932-01 COSM1411014 c.637C>T p.R213* Substitution - Nonsense 20:32083998-32083998 + TCGA-46-6025-01 COSM723152 c.987C>G p.I329M Substitution - Missense 20:32086779-32086779 + C086 COSM5532172 c.823G>A p.E275K Substitution - Missense 20:32084531-32084531 + 31T COSM3713224 c.1030-1G>C p.? Unknown 20:32093862-32093862 + ESO-805 COSM1253995 c.221delG p.E75fs*34 Deletion - Frameshift 20:32073356-32073356 + TCGA-AA-3949-01 COSM296913 c.2_3insG p.R4fs*38 Insertion - Frameshift 20:32052426-32052427 + TCGA-24-1849-01 COSM1326823 c.1436A>T p.E479V Substitution - Missense 20:32101437-32101437 + TCGA-46-6025-01 COSM723153 c.924C>G p.I308M Substitution - Missense 20:32086779-32086779 + CSCC-38-T COSM3545182 c.937G>A p.E313K Substitution - Missense 20:32086792-32086792 + TCGA-D5-6540-01 COSM1411036 c.1359C>G p.Y453* Substitution - Nonsense 20:32099116-32099116 + T276 COSM4689618 c.1193_1194insC p.I400fs*7 Insertion - Frameshift 20:32099013-32099014 + TCGA-D9-A6EA-06 COSM4398041 c.577A>C p.S193R Substitution - Missense 20:32084001-32084001 + TCGA-CM-5341-01 COSM1411017 c.765C>T p.V255V Substitution - coding silent 20:32084536-32084536 + Ly1 COSM1580988 c.865G>C p.V289L Substitution - Missense 20:32086657-32086657 + PCSI_0307_Pa_P_526 COSM3785376 c.226+2T>C p.? Unknown 20:32073363-32073363 + CHC892T COSM4960698 c.1004C>T p.P335L Substitution - Missense 20:32088619-32088619 + TCGA-A6-6780-01 COSM1411035 c.1240A>G p.T414A Substitution - Missense 20:32099060-32099060 + B78 COSM1751380 c.607G>C p.D203H Substitution - Missense 20:32084031-32084031 + TCGA-DA-A1HV-06 COSM3911075 c.158C>G p.P53R Substitution - Missense 20:32071757-32071757 + TCGA-D7-8573-01 COSM1743470 c.583G>A p.V195M Substitution - Missense 20:32083944-32083944 + 0045_CRUK_PC_0045_T1_DNA COSM4097483 c.615C>T p.N205N Substitution - coding silent 20:32083976-32083976 + TCGA-P5-A5EZ-01 COSM3840711 c.153C>T p.Y51Y Substitution - coding silent 20:32071752-32071752 + T2940 COSM4689613 c.1006A>G p.M336V Substitution - Missense 20:32086798-32086798 + KYSE-450 COSM2888991 c.696G>C p.G232G Substitution - coding silent 20:32084404-32084404 + CHC2216T COSM4805935 c.1164C>A p.N388K Substitution - Missense 20:32093997-32093997 + YUTUR COSM5391800 c.1325C>T p.S442F Substitution - Missense 20:32099082-32099082 + S02284 COSM5684153 c.167C>A p.T56K Substitution - Missense 20:32071766-32071766 + YUWAND COSM1713327 c.1317C>G p.D439E Substitution - Missense 20:32099074-32099074 + DLBCL1052 COSM1580990 c.872C>T p.T291M Substitution - Missense 20:32086664-32086664 + C135 COSM4097483 c.615C>T p.N205N Substitution - coding silent 20:32083976-32083976 + TCGA-06-0646-01 COSM42855 c.1430C>T p.P477L Substitution - Missense 20:32101431-32101431 + T276 COSM4689617 c.1256_1257insC p.I421fs*7 Insertion - Frameshift 20:32099013-32099014 + TCGA-FW-A3R5-06 COSM3911079 c.1376C>T p.P459L Substitution - Missense 20:32099133-32099133 + CHC891T COSM4953467 c.1506A>G p.Q502Q Substitution - coding silent 20:32101507-32101507 + ESCC-001T COSM3939294 c.693C>T p.D231D Substitution - coding silent 20:32084401-32084401 + CHC891T COSM4953466 c.1569A>G p.Q523Q Substitution - coding silent 20:32101507-32101507 + 06-P036 COSM4581717 c.1506G>A p.P502P Substitution - coding silent 20:32101444-32101444 + TCGA-EB-A42Y-01 COSM1411019 c.830C>T p.S277L Substitution - Missense 20:32086685-32086685 + TCGA-EE-A3AD-06 COSM3545187 c.1293C>T p.T431T Substitution - coding silent 20:32099113-32099113 + YUTUR COSM5391801 c.1262C>T p.S421F Substitution - Missense 20:32099082-32099082 + CLL169 COSM1291091 c.658C>A p.Q220K Substitution - Missense 20:32084019-32084019 + DLBCL-PatientC COSM220277 c.1055A>C p.E352A Substitution - Missense 20:32093888-32093888 + TCGA-AZ-4315-01 COSM1411019 c.830C>T p.S277L Substitution - Missense 20:32086685-32086685 + SNU-175 COSM2889026 c.1474C>T p.R492C Substitution - Missense 20:32101412-32101412 + ACINAR11 COSM1734178 c.1414C>T p.R472C Substitution - Missense 20:32101352-32101352 + CHC892T COSM4793730 c.572C>T p.P191L Substitution - Missense 20:32083996-32083996 + Case1 COSM1579131 c.11G>A p.R4H Substitution - Missense 20:32052435-32052435 + TCGA-CG-5721-01 COSM4097484 c.552C>T p.N184N Substitution - coding silent 20:32083976-32083976 + 3_RESISTANT COSM1723572 c.1360C>T p.R454W Substitution - Missense 20:32101361-32101361 + Patient_1 COSM5414224 c.771G>A p.M257I Substitution - Missense 20:32084542-32084542 + BD236T COSM5519744 c.1288G>A p.V430I Substitution - Missense 20:32099108-32099108 + CHC891T COSM4953467 c.1506A>G p.Q502Q Substitution - coding silent 20:32101507-32101507 + CSCC-35-T COSM4559886 c.822G>A p.G274G Substitution - coding silent 20:32084530-32084530 + TCGA-D3-A1Q6-06 COSM3545178 c.720C>T p.S240S Substitution - coding silent 20:32084491-32084491 + TCGA-06-5414-01 COSM3405010 c.813G>A p.M271I Substitution - Missense 20:32086668-32086668 + TCGA-B5-A11E-01 COSM1025661 c.486C>T p.S162S Substitution - coding silent 20:32083910-32083910 + T155 COSM1176414 c.371T>G p.F124C Substitution - Missense 20:32079779-32079779 + C0007T COSM4164667 c.992T>A p.I331N Substitution - Missense 20:32086784-32086784 + S02255 COSM5680712 c.1143G>C p.L381L Substitution - coding silent 20:32093976-32093976 + TCGA-EE-A2MK-06 COSM2888969 c.400G>A p.A134T Substitution - Missense 20:32074693-32074693 + 3844_T COSM3963462 c.1501C>G p.R501G Substitution - Missense 20:32101439-32101439 + DLBCL1052 COSM1580991 c.809C>T p.T270M Substitution - Missense 20:32086664-32086664 + TCGA-CM-5349-01 COSM3693427 c.1493C>A p.P498Q Substitution - Missense 20:32101431-32101431 + 31T COSM3713223 c.1093-1G>C p.? Unknown 20:32093862-32093862 + TCGA-CM-5349-01 COSM3693428 c.1430C>A p.P477Q Substitution - Missense 20:32101431-32101431 + TCGA-A8-A09Z-01 COSM3840711 c.153C>T p.Y51Y Substitution - coding silent 20:32071752-32071752 + OSCC-GB_00310111 COSM3713224 c.1030-1G>C p.? Unknown 20:32093862-32093862 + UM-SCC-47 COSM4600102 c.1183G>A p.G395R Substitution - Missense 20:32094016-32094016 + TCGA-D3-A1Q6-06 COSM3545177 c.783C>T p.S261S Substitution - coding silent 20:32084491-32084491 + TCGA-FW-A3R5-06 COSM3911077 c.979G>A p.E327K Substitution - Missense 20:32086771-32086771 + TCGA-D9-A6EA-06 COSM4398040 c.640A>C p.S214R Substitution - Missense 20:32084001-32084001 + 40M COSM5585399 c.1407G>A p.M469I Substitution - Missense 20:32101408-32101408 + BD114T COSM5504649 c.478G>A p.A160T Substitution - Missense 20:32079823-32079823 + FL007 COSM220524 c.41A>G p.N14S Substitution - Missense 20:32071703-32071703 + T3064 COSM4689612 c.381C>T p.G127G Substitution - coding silent 20:32079789-32079789 + YUKLAB COSM1713323 c.613A>C p.N205H Substitution - Missense 20:32083974-32083974 + 17060 COSM48415 c.485C>A p.S162Y Substitution - Missense 20:32083909-32083909 + B78-Tumor COSM1751380 c.607G>C p.D203H Substitution - Missense 20:32084031-32084031 + 8035603 COSM1411015 c.574C>T p.R192* Substitution - Nonsense 20:32083998-32083998 + TCGA-D3-A5GO-06 COSM3545164 c.282G>A p.W94* Substitution - Nonsense 20:32074638-32074638 + TCGA-AP-A056-01 COSM1025679 c.1370G>A p.R457H Substitution - Missense 20:32101371-32101371 + CSCC-19-T COSM4561422 c.884G>A p.G295E Substitution - Missense 20:32086676-32086676 + TCGA-A5-A0VQ-01 COSM1025655 c.216C>A p.H72Q Substitution - Missense 20:32073768-32073768 + TCGA-EE-A2MR-06 COSM3545181 c.1000G>A p.E334K Substitution - Missense 20:32086792-32086792 + TCGA-60-2708-01 COSM723148 c.1544A>G p.Y515C Substitution - Missense 20:32101482-32101482 + TCGA-IR-A3LH-01 COSM2888959 c.113C>G p.S38* Substitution - Nonsense 20:32071712-32071712 + TCGA-B5-A0JY-01 COSM1025671 c.1074C>T p.L358L Substitution - coding silent 20:32088626-32088626 + 587220 COSM1209354 c.1102G>T p.V368F Substitution - Missense 20:32093935-32093935 + 1_RESISTANT COSM1719033 c.1482G>A p.W494* Substitution - Nonsense 20:32101420-32101420 + TCGA-ER-A19E-06 COSM48418 c.1213C>T p.P405S Substitution - Missense 20:32099033-32099033 + 35M COSM5581282 c.1176C>T p.S392S Substitution - coding silent 20:32093946-32093946 + TCGA-EE-A2MG-06 COSM3545165 c.456G>A p.K152K Substitution - coding silent 20:32079801-32079801 + TCGA-AP-A056-01 COSM1025677 c.1433G>A p.R478H Substitution - Missense 20:32101371-32101371 + TCGA-FJ-A3ZE-01 COSM3799415 c.620-1G>C p.? Unknown 20:32084390-32084390 + C086 COSM234788 c.1287C>T p.I429I Substitution - coding silent 20:32099107-32099107 + SNU-175 COSM2889027 c.1411C>T p.R471C Substitution - Missense 20:32101412-32101412 + TCGA-60-2708-01 COSM723149 c.1481A>G p.Y494C Substitution - Missense 20:32101482-32101482 + TCGA-BR-4361-01 COSM4097490 c.1173G>T p.T391T Substitution - coding silent 20:32094006-32094006 + PT21_2 COSM5902120 c.1369C>T p.P457S Substitution - Missense 20:32099126-32099126 + TCGA-06-6695-01 COSM3405011 c.984C>T p.P328P Substitution - coding silent 20:32086776-32086776 + CSCC-19-T COSM3911077 c.979G>A p.E327K Substitution - Missense 20:32086771-32086771 + 16835 COSM48417 c.1051A>T p.I351F Substitution - Missense 20:32093884-32093884 + TCGA-GU-A42R-01 COSM3799419 c.953G>T p.G318V Substitution - Missense 20:32088568-32088568 + S02255 COSM5680710 c.1206G>C p.L402L Substitution - coding silent 20:32093976-32093976 + Pat_76_A COSM5857624 c.869C>T p.T290I Substitution - Missense 20:32086724-32086724 + TCGA-B8-5550-01 COSM577193 c.953G>A p.G318E Substitution - Missense 20:32088568-32088568 + CSCC-35-T COSM4559887 c.759G>A p.G253G Substitution - coding silent 20:32084530-32084530 + BD114T COSM5504651 c.415G>A p.A139T Substitution - Missense 20:32079823-32079823 + TCGA-A8-A0A1-01 COSM443620 c.1475G>A p.R492H Substitution - Missense 20:32101413-32101413 + CHC892T COSM4793730 c.572C>T p.P191L Substitution - Missense 20:32083996-32083996 + TCGA-22-5478-01 COSM723156 c.185G>A p.G62E Substitution - Missense 20:32073320-32073320 + S02360 COSM5696158 c.1251A>C p.S417S Substitution - coding silent 20:32099071-32099071 + SC_9100 COSM5570048 c.1548G>A p.T516T Substitution - coding silent 20:32101486-32101486 + TCGA-AA-3712-01 COSM1411022 c.1116C>T p.I372I Substitution - coding silent 20:32093886-32093886 + SNU-C2B COSM4615303 c.303delG p.D103fs*6 Deletion - Frameshift 20:32073792-32073792 + Ly1 COSM1580989 c.802G>C p.V268L Substitution - Missense 20:32086657-32086657 + TCGA-Q1-A73O-01 COSM4835537 c.121G>A p.E41K Substitution - Missense 20:32071720-32071720 + EKVX COSM1681604 c.447C>G p.I149M Substitution - Missense 20:32079855-32079855 + CSCC-7-T COSM4526767 c.1355G>A p.G452E Substitution - Missense 20:32101356-32101356 + LUAD-F00282 COSM367304 c.547G>T p.D183Y Substitution - Missense 20:32083971-32083971 + TCGA-HT-7882-01 COSM3972506 c.456C>T p.S152S Substitution - coding silent 20:32079864-32079864 + TCGA-BR-8289-01 COSM1411014 c.637C>T p.R213* Substitution - Nonsense 20:32083998-32083998 + CSCC-27-T COSM4529039 c.1580G>A p.*527* Substitution - coding silent 20:32101518-32101518 + PD6733b COSM5785589 c.1223A>G p.D408G Substitution - Missense 20:32093993-32093993 + sysucc-657T COSM5459977 c.1015+8G>A p.? Unknown 20:32086815-32086815 + A9 COSM5350579 c.1085G>A p.R362Q Substitution - Missense 20:32093918-32093918 + B78-Tumor COSM1751379 c.670G>C p.D224H Substitution - Missense 20:32084031-32084031 + KYSE-450 COSM2888992 c.633G>C p.G211G Substitution - coding silent 20:32084404-32084404 + PD0880a COSM20679 c.1133A>G p.D378G Substitution - Missense 20:32093966-32093966 + TCGA-CK-4951-01 COSM5150951 c.621G>A p.K207K Substitution - coding silent 20:32084392-32084392 + CSCC-20-T COSM4568043 c.34_35GG>AA p.G12K Substitution - Missense 20:32071696-32071697 + Au1 COSM5596826 c.328G>A p.E110K Substitution - Missense 20:32073817-32073817 + PD6733b COSM5785591 c.1160A>G p.D387G Substitution - Missense 20:32093993-32093993 + TCGA-AA-3712-01 COSM1411023 c.1053C>T p.I351I Substitution - coding silent 20:32093886-32093886 + TCGA-AP-A0LM-01 COSM1025662 c.775C>T p.R259W Substitution - Missense 20:32084483-32084483 + BD236T COSM5519742 c.1351G>A p.V451I Substitution - Missense 20:32099108-32099108 + TCGA-CD-5801-01 COSM4097487 c.969G>A p.V323V Substitution - coding silent 20:32086761-32086761 + TCGA-B5-A0JY-01 COSM1025658 c.350C>A p.S117Y Substitution - Missense 20:32074706-32074706 + TCGA-AA-A01Q-01 COSM300065 c.1281A>G p.E427E Substitution - coding silent 20:32099038-32099038 + C135 COSM4097484 c.552C>T p.N184N Substitution - coding silent 20:32083976-32083976 + 8067180 COSM175567 c.343G>A p.V115I Substitution - Missense 20:32074699-32074699 + TCGA-CK-5916-01 COSM1411012 c.632delC p.R213fs*77 Deletion - Frameshift 20:32083993-32083993 + TCGA-06-6695-01 COSM3405012 c.921C>T p.P307P Substitution - coding silent 20:32086776-32086776 + SC_9100 COSM5570050 c.1485G>A p.T495T Substitution - coding silent 20:32101486-32101486 + TCGA-CG-4300-01 COSM4097492 c.1206G>A p.W402* Substitution - Nonsense 20:32099026-32099026 + T3064 COSM4689611 c.444C>T p.G148G Substitution - coding silent 20:32079789-32079789 + ESCC-248T COSM3939297 c.1462A>T p.S488C Substitution - Missense 20:32101463-32101463 + 8035603 COSM1411014 c.637C>T p.R213* Substitution - Nonsense 20:32083998-32083998 + B105-1 COSM1751378 c.404G>A p.R135H Substitution - Missense 20:32079812-32079812 + CSCC-11-T COSM4465185 c.1307C>T p.P436L Substitution - Missense 20:32099127-32099127 + 1N53-VS-1T53 COSM4976908 c.205G>A p.E69K Substitution - Missense 20:32073757-32073757 + TCGA-GN-A266-06 COSM1025664 c.712C>T p.R238W Substitution - Missense 20:32084483-32084483 + TCGA-AA-A01Q-01 COSM300064 c.1218A>G p.E406E Substitution - coding silent 20:32099038-32099038 + CSCC-27-T COSM4464769 c.1350C>T p.I450I Substitution - coding silent 20:32099107-32099107 + HCC127T COSM5822744 c.931A>T p.T311S Substitution - Missense 20:32086723-32086723 + YUKLAB COSM1713322 c.499G>A p.D167N Substitution - Missense 20:32083923-32083923 + C086 COSM5532177 c.17C>T p.S6F Substitution - Missense 20:32071679-32071679 + CHC892T COSM4793729 c.635C>T p.P212L Substitution - Missense 20:32083996-32083996 + PT21_2 COSM5902122 c.1306C>T p.P436S Substitution - Missense 20:32099126-32099126 + TCGA-CM-5348-01 COSM5157435 c.46G>A p.E16K Substitution - Missense 20:32052470-32052470 + TCGA-P5-A5EZ-01 COSM3840712 c.90C>T p.Y30Y Substitution - coding silent 20:32071752-32071752 + TCGA-06-0646 COSM42855 c.1430C>T p.P477L Substitution - Missense 20:32101431-32101431 + CLL169 COSM1291092 c.595C>A p.Q199K Substitution - Missense 20:32084019-32084019 + C086 COSM4464769 c.1350C>T p.I450I Substitution - coding silent 20:32099107-32099107 + DLBCL1055 COSM1580993 c.1400A>G p.N467S Substitution - Missense 20:32101401-32101401 + TCGA-EE-A2MK-06 COSM2888970 c.337G>A p.A113T Substitution - Missense 20:32074693-32074693 + CSCC-27-T COSM4529040 c.1517G>A p.*506* Substitution - coding silent 20:32101518-32101518 + TCGA-DK-A2I4-01 COSM3799421 c.1156G>A p.E386K Substitution - Missense 20:32093989-32093989 + TCGA-GN-A266-06 COSM1025662 c.775C>T p.R259W Substitution - Missense 20:32084483-32084483 + TCGA-B8-5550-01 COSM577192 c.1016G>A p.G339E Substitution - Missense 20:32088568-32088568 + TCGA-HU-8602-01 COSM4097496 c.1468C>T p.L490L Substitution - coding silent 20:32101469-32101469 + TCGA-AZ-4315-01 COSM1411025 c.1104C>A p.V368V Substitution - coding silent 20:32093937-32093937 + S02284 COSM5684155 c.104C>A p.T35K Substitution - Missense 20:32071766-32071766 + HCC174T COSM3707688 c.54G>A p.R18R Substitution - coding silent 20:32052478-32052478 + TCGA-CM-5341-01 COSM1411016 c.828C>T p.V276V Substitution - coding silent 20:32084536-32084536 + LUAD-VUMN6 COSM347973 c.1435G>A p.E479K Substitution - Missense 20:32101436-32101436 + TCGA-B0-4823-01 COSM477994 c.607G>A p.D203N Substitution - Missense 20:32084031-32084031 + HCC127T COSM5822746 c.868A>T p.T290S Substitution - Missense 20:32086723-32086723 + CSCC-19-T COSM3911078 c.916G>A p.E306K Substitution - Missense 20:32086771-32086771 + TCGA-D3-A1QB-06 COSM3545171 c.685G>A p.G229R Substitution - Missense 20:32084393-32084393 + TCGA-ER-A19P-06 COSM3545168 c.479C>T p.S160F Substitution - Missense 20:32083903-32083903 + TCGA-D3-A51E-06 COSM3545170 c.569C>T p.S190F Substitution - Missense 20:32083993-32083993 + OSCC-GB_00310111 COSM3713223 c.1093-1G>C p.? Unknown 20:32093862-32093862 + TCGA-EE-A2MG-06 COSM3545166 c.393G>A p.K131K Substitution - coding silent 20:32079801-32079801 + RK159_C01 COSM1632231 c.13T>C p.S5P Substitution - Missense 20:32052437-32052437 + TCGA-HU-A4G8-01 COSM4097493 c.1424G>A p.R475Q Substitution - Missense 20:32101362-32101362 + S00830 COSM317443 c.742G>T p.G248* Substitution - Nonsense 20:32084513-32084513 + T8 COSM5343567 c.1013T>C p.I338T Substitution - Missense 20:32088628-32088628 + TCGA-D3-A51E-06 COSM3545169 c.632C>T p.S211F Substitution - Missense 20:32083993-32083993 + CSCC-19-T COSM4561423 c.821G>A p.G274E Substitution - Missense 20:32086676-32086676 + YUDON COSM3545171 c.685G>A p.G229R Substitution - Missense 20:32084393-32084393 + TCGA-12-3650-01 COSM3405014 c.1151T>C p.V384A Substitution - Missense 20:32093984-32093984 + TCGA-EE-A2MF-06 COSM4529039 c.1580G>A p.*527* Substitution - coding silent 20:32101518-32101518 + CHC892T COSM4960698 c.1004C>T p.P335L Substitution - Missense 20:32088619-32088619 + 587220 COSM1209353 c.1165G>T p.V389F Substitution - Missense 20:32093935-32093935 + TCGA-AD-5900-01 COSM296913 c.2_3insG p.R4fs*38 Insertion - Frameshift 20:32052426-32052427 + CHC433T COSM3766616 c.135C>T p.S45S Substitution - coding silent 20:32071734-32071734 + S00830 COSM317444 c.805G>T p.G269* Substitution - Nonsense 20:32084513-32084513 + TCGA-12-3650-01 COSM3405013 c.1214T>C p.V405A Substitution - Missense 20:32093984-32093984 + TCGA-B5-A0JY-01 COSM1025673 c.1011C>T p.L337L Substitution - coding silent 20:32088626-32088626 + TCGA-AA-3667-01 COSM5101797 c.329+9C>A p.? Unknown 20:32073827-32073827 + TCGA-D3-A5GO-06 COSM3545163 c.345G>A p.W115* Substitution - Nonsense 20:32074638-32074638 + TCGA-FW-A3R5-06 COSM3911078 c.916G>A p.E306K Substitution - Missense 20:32086771-32086771 + TCGA-A5-A0GP-01 COSM1025676 c.1172C>A p.T391K Substitution - Missense 20:32094005-32094005 + TCGA-EE-A2MR-06 COSM3545180 c.749G>A p.G250E Substitution - Missense 20:32084520-32084520 + 35M COSM5581284 c.1113C>T p.S371S Substitution - coding silent 20:32093946-32093946 + TCGA-FJ-A3ZE-01 COSM3799416 c.768G>A p.E256E Substitution - coding silent 20:32084476-32084476 + TCGA-BR-4256-01 COSM4097482 c.4G>A p.G2R Substitution - Missense 20:32071666-32071666 + GB18 COSM1743470 c.583G>A p.V195M Substitution - Missense 20:32083944-32083944 + SNU-175 COSM2889015 c.1283C>T p.A428V Substitution - Missense 20:32099040-32099040 + TCGA-EE-A181-06 COSM3545183 c.1257C>T p.F419F Substitution - coding silent 20:32099014-32099014 + CRC-19T COSM5481586 c.491G>A p.R164Q Substitution - Missense 20:32083915-32083915 + TCGA-DA-A1HV-06 COSM3911076 c.95C>G p.P32R Substitution - Missense 20:32071757-32071757 + 2492720 COSM5724374 c.858G>A p.K286K Substitution - coding silent 20:32086650-32086650 + Pat_26_A COSM5857619 c.637C>G p.R213G Substitution - Missense 20:32083998-32083998 + TCGA-EE-A3AD-06 COSM3545186 c.1356C>T p.T452T Substitution - coding silent 20:32099113-32099113 + 2492720 COSM5724376 c.795G>A p.K265K Substitution - coding silent 20:32086650-32086650 + LUAD-RT-S01702 COSM379256 c.658C>T p.Q220* Substitution - Nonsense 20:32084019-32084019 + UM-SCC-47 COSM4600101 c.1246G>A p.G416R Substitution - Missense 20:32094016-32094016 + AML_14y_07_DX COSM5219997 c.219C>T p.H73H Substitution - coding silent 20:32073771-32073771 + 2492722 COSM5724376 c.795G>A p.K265K Substitution - coding silent 20:32086650-32086650 + TCGA-B5-A0JY-01 COSM1025656 c.413C>A p.S138Y Substitution - Missense 20:32074706-32074706 + YUDON COSM3545172 c.622G>A p.G208R Substitution - Missense 20:32084393-32084393 + 17156 COSM48418 c.1213C>T p.P405S Substitution - Missense 20:32099033-32099033 + TCGA-CK-5916-01 COSM1411013 c.569delC p.R192fs*77 Deletion - Frameshift 20:32083993-32083993 + AML_14y_07_DX COSM5219996 c.282C>T p.H94H Substitution - coding silent 20:32073771-32073771 + pfg034T COSM4752006 c.575G>A p.G192E Substitution - Missense 20:32083936-32083936 + B105-1-Tumor COSM1751377 c.467G>A p.R156H Substitution - Missense 20:32079812-32079812 + LUAD-E01317 COSM403769 c.304C>G p.R102G Substitution - Missense 20:32074660-32074660 + YURED COSM1713325 c.1259C>A p.P420H Substitution - Missense 20:32099016-32099016 + TCGA-FJ-A3ZE-01 COSM3799414 c.683-1G>C p.? Unknown 20:32084390-32084390 + TCGA-FJ-A3ZE-01 COSM3799417 c.705G>A p.E235E Substitution - coding silent 20:32084476-32084476 + CHC892T COSM4793729 c.635C>T p.P212L Substitution - Missense 20:32083996-32083996 + 3_PRE-TREATMENT COSM1723571 c.1423C>T p.R475W Substitution - Missense 20:32101361-32101361 + YURED COSM1713326 c.1196C>A p.P399H Substitution - Missense 20:32099016-32099016 + RKO COSM296913 c.2_3insG p.R4fs*38 Insertion - Frameshift 20:32052426-32052427 + TCGA-A8-A0A1-01 COSM443621 c.1412G>A p.R471H Substitution - Missense 20:32101413-32101413 + TCGA-BS-A0UF-01 COSM1025668 c.784C>A p.L262I Substitution - Missense 20:32084492-32084492 + YUNEKI COSM5391803 c.1492G>A p.E498K Substitution - Missense 20:32101493-32101493 + TCGA-D3-A51R-06 COSM3545175 c.720C>T p.P240P Substitution - coding silent 20:32084428-32084428 + TCGA-ER-A19E-06 COSM3545185 c.1276C>T p.P426S Substitution - Missense 20:32099033-32099033 + TCGA-HQ-A2OE-01 COSM1307263 c.949C>T p.L317L Substitution - coding silent 20:32086741-32086741 + OSCC-GB_00920111 COSM4881676 c.490C>T p.R164* Substitution - Nonsense 20:32083914-32083914 + CSCC-27-T COSM234788 c.1287C>T p.I429I Substitution - coding silent 20:32099107-32099107 + SC_9100 COSM5569894 c.1235C>T p.T412M Substitution - Missense 20:32094005-32094005 + TCGA-EE-A181-06 COSM3545184 c.1194C>T p.F398F Substitution - coding silent 20:32099014-32099014 + CSCC-11-T COSM4465184 c.1370C>T p.P457L Substitution - Missense 20:32099127-32099127 + CRC-19T COSM5481585 c.554G>A p.R185Q Substitution - Missense 20:32083915-32083915 + TCGA-CA-6717-01 COSM1411032 c.1291T>G p.F431V Substitution - Missense 20:32099048-32099048 + TCGA-AZ-4315-01 COSM1411024 c.1167C>A p.V389V Substitution - coding silent 20:32093937-32093937 + TCGA-CA-6717-01 COSM1411026 c.1167C>T p.V389V Substitution - coding silent 20:32093937-32093937 + TCGA-CA-6717-01 COSM1411033 c.1228T>G p.F410V Substitution - Missense 20:32099048-32099048 + CHC2216T COSM4805935 c.1164C>A p.N388K Substitution - Missense 20:32093997-32093997 + TCGA-CM-6163-01 COSM1411009 c.342C>T p.R114R Substitution - coding silent 20:32074698-32074698 + Pa10X COSM84717 c.5G>A p.G2E Substitution - Missense 20:32071667-32071667 + PR-00-1165 COSM244864 c.1177C>T p.R393W Substitution - Missense 20:32094010-32094010 + S00830 COSM317443 c.742G>T p.G248* Substitution - Nonsense 20:32084513-32084513 + PA285 COSM1163276 c.835G>T p.A279S Substitution - Missense 20:32084543-32084543 + 1N53-VS-1T53 COSM4976907 c.268G>A p.E90K Substitution - Missense 20:32073757-32073757 + TCGA-BR-8289-01 COSM1411015 c.574C>T p.R192* Substitution - Nonsense 20:32083998-32083998 + TCGA-EE-A2MR-06 COSM3545182 c.937G>A p.E313K Substitution - Missense 20:32086792-32086792 + TCGA-EB-A431-01 COSM3545188 c.1505C>T p.P502L Substitution - Missense 20:32101443-32101443 + PCSI_0307_Pa_P_526 COSM3785377 c.163+2T>C p.? Unknown 20:32073363-32073363 + PCSI_0124_Pa_X COSM3378976 c.66C>T p.S22S Substitution - coding silent 20:32071728-32071728 + U2932 COSM1580987 c.601C>A p.L201M Substitution - Missense 20:32084025-32084025 + ESO-805 COSM1253996 c.158delG p.E54fs*34 Deletion - Frameshift 20:32073356-32073356 + T578 COSM4689616 c.1020C>A p.F340L Substitution - Missense 20:32088635-32088635 + 1_PRE-TREATMENT COSM1719033 c.1482G>A p.W494* Substitution - Nonsense 20:32101420-32101420 + TCGA-CD-5801-01 COSM4097488 c.906G>A p.V302V Substitution - coding silent 20:32086761-32086761 + TCGA-06-5856-01 COSM3405007 c.217A>T p.I73F Substitution - Missense 20:32073352-32073352 + ACINAR11 COSM1734179 c.1351C>T p.R451C Substitution - Missense 20:32101352-32101352 + TCGA-AP-A0LM-01 COSM1025665 c.782C>A p.S261Y Substitution - Missense 20:32084490-32084490 + TCGA-12-0619 COSM1559578 c.714G>A p.S238S Substitution - coding silent 20:32084422-32084422 + LUAD-RT-S01702 COSM379257 c.595C>T p.Q199* Substitution - Nonsense 20:32084019-32084019 + A9 COSM5350578 c.1148G>A p.R383Q Substitution - Missense 20:32093918-32093918 + LAU50_2 COSM234788 c.1287C>T p.I429I Substitution - coding silent 20:32099107-32099107 + TCGA-Q1-A73O-01 COSM4835538 c.58G>A p.E20K Substitution - Missense 20:32071720-32071720 + TCGA-B0-4823-01 COSM477993 c.670G>A p.D224N Substitution - Missense 20:32084031-32084031 + GB18 COSM1743471 c.520G>A p.V174M Substitution - Missense 20:32083944-32083944 + T8 COSM5343566 c.1076T>C p.I359T Substitution - Missense 20:32088628-32088628 + TCGA-EE-A20F-06 COSM3545173 c.697C>T p.L233F Substitution - Missense 20:32084405-32084405 + TCGA-BR-8382-01 COSM4097486 c.757G>A p.G253R Substitution - Missense 20:32084528-32084528 + TCGA-CK-4951-01 COSM5150950 c.684G>A p.K228K Substitution - coding silent 20:32084392-32084392 + TCGA-AA-3667-01 COSM5101798 c.266+9C>A p.? Unknown 20:32073827-32073827 + YUKLAB COSM1713324 c.550A>C p.N184H Substitution - Missense 20:32083974-32083974 + TCGA-D5-6540-01 COSM1411037 c.1296C>G p.Y432* Substitution - Nonsense 20:32099116-32099116 + TCGA-IR-A3LH-01 COSM2888960 c.50C>G p.S17* Substitution - Nonsense 20:32071712-32071712 + TCGA-GU-A42R-01 COSM3799418 c.1016G>T p.G339V Substitution - Missense 20:32088568-32088568 + TCGA-CG-4300-01 COSM4097491 c.1269G>A p.W423* Substitution - Nonsense 20:32099026-32099026 + 8067180 COSM2888971 c.406G>A p.V136I Substitution - Missense 20:32074699-32074699 + TCGA-D7-8573-01 COSM1743471 c.520G>A p.V174M Substitution - Missense 20:32083944-32083944 + OSCC-GB_00920111 COSM4881675 c.553C>T p.R185* Substitution - Nonsense 20:32083914-32083914 + LAU50_1 COSM234788 c.1287C>T p.I429I Substitution - coding silent 20:32099107-32099107 + TCGA-06-0646 COSM1411040 c.1493C>T p.P498L Substitution - Missense 20:32101431-32101431 + 06-P036 COSM4581718 c.1443G>A p.P481P Substitution - coding silent 20:32101444-32101444 + ME020T COSM225791 c.1112C>T p.S371F Substitution - Missense 20:32093945-32093945 + TCGA-B5-A11E-01 COSM1025659 c.549C>T p.S183S Substitution - coding silent 20:32083910-32083910 + C086 COSM5532175 c.80C>T p.S27F Substitution - Missense 20:32071679-32071679 + ME050T COSM230804 c.1180G>A p.E394K Substitution - Missense 20:32094013-32094013 + 3844_T COSM3963463 c.1438C>G p.R480G Substitution - Missense 20:32101439-32101439 + Patient_1 COSM5414223 c.834G>A p.M278I Substitution - Missense 20:32084542-32084542 + SW48 COSM296913 c.2_3insG p.R4fs*38 Insertion - Frameshift 20:32052426-32052427 + Gp5D COSM296913 c.2_3insG p.R4fs*38 Insertion - Frameshift 20:32052426-32052427 + IGROV-1 COSM1681601 c.466C>T p.R156C Substitution - Missense 20:32079811-32079811 + STC246 COSM4097489 c.1236G>T p.T412T Substitution - coding silent 20:32094006-32094006 + S00830 COSM317444 c.805G>T p.G269* Substitution - Nonsense 20:32084513-32084513 + SNU-175 COSM2888971 c.406G>A p.V136I Substitution - Missense 20:32074699-32074699 + SNU-175 COSM175567 c.343G>A p.V115I Substitution - Missense 20:32074699-32074699 + TCGA-22-5478-01 COSM723157 c.122G>A p.G41E Substitution - Missense 20:32073320-32073320 + 2492722 COSM5724374 c.858G>A p.K286K Substitution - coding silent 20:32086650-32086650 + TCGA-BR-4361-01 COSM4097489 c.1236G>T p.T412T Substitution - coding silent 20:32094006-32094006 + LUAD-E01317 COSM403768 c.367C>G p.R123G Substitution - Missense 20:32074660-32074660 + TCGA-A8-A09Z-01 COSM3840712 c.90C>T p.Y30Y Substitution - coding silent 20:32071752-32071752 + TCGA-12-0619-01 COSM42854 c.651G>A p.S217S Substitution - coding silent 20:32084422-32084422 + ME011T COSM224592 c.1514C>T p.P505L Substitution - Missense 20:32101515-32101515 + TCGA-CA-6717-01 COSM1411027 c.1104C>T p.V368V Substitution - coding silent 20:32093937-32093937 + HCC118T COSM5813801 c.1568A>T p.Q523L Substitution - Missense 20:32101506-32101506 + Gp2D COSM296913 c.2_3insG p.R4fs*38 Insertion - Frameshift 20:32052426-32052427 + TCGA-D9-A4Z3-01 COSM3545161 c.81C>T p.S27S Substitution - coding silent 20:32071680-32071680 + Pat_26_A COSM5857621 c.574C>G p.R192G Substitution - Missense 20:32083998-32083998 + TCGA-AA-3713-01 COSM1411038 c.1362C>T p.G454G Substitution - coding silent 20:32099119-32099119 + Pat_76_A COSM5857622 c.932C>T p.T311I Substitution - Missense 20:32086724-32086724 + LUAD-VUMN6 COSM347972 c.1498G>A p.E500K Substitution - Missense 20:32101436-32101436 + BD194T COSM5501301 c.1122G>C p.Q374H Substitution - Missense 20:32093892-32093892 + DLBCL1055 COSM1580992 c.1463A>G p.N488S Substitution - Missense 20:32101401-32101401 + SE1 COSM1165634 c.906C>T p.F302F Substitution - coding silent 20:32086698-32086698 + TCGA-EE-A20F-06 COSM3545174 c.634C>T p.L212F Substitution - Missense 20:32084405-32084405 + TCGA-CG-5721-01 COSM4097483 c.615C>T p.N205N Substitution - coding silent 20:32083976-32083976 + TCGA-60-2723-01 COSM723150 c.1445G>T p.C482F Substitution - Missense 20:32101383-32101383 + T578 COSM4689615 c.1083C>A p.F361L Substitution - Missense 20:32088635-32088635 + TCGA-24-1849-01 COSM1326822 c.1499A>T p.E500V Substitution - Missense 20:32101437-32101437 + IGROV-1 COSM1681602 c.403C>T p.R135C Substitution - Missense 20:32079811-32079811 + TCGA-AP-A0LM-01 COSM1025667 c.719C>A p.S240Y Substitution - Missense 20:32084490-32084490 + CSCC-38-T COSM3545181 c.1000G>A p.E334K Substitution - Missense 20:32086792-32086792 + YUNEKI COSM5391802 c.1555G>A p.E519K Substitution - Missense 20:32101493-32101493 + TCGA-06-0646-01 COSM1411040 c.1493C>T p.P498L Substitution - Missense 20:32101431-32101431 + PCSI_0124_Pa_X COSM3378975 c.129C>T p.S43S Substitution - coding silent 20:32071728-32071728 + TCGA-A6-6780-01 COSM1411034 c.1303A>G p.T435A Substitution - Missense 20:32099060-32099060 + LUAD-F00282 COSM367303 c.610G>T p.D204Y Substitution - Missense 20:32083971-32083971 + TCGA-BR-8382-01 COSM4097485 c.820G>A p.G274R Substitution - Missense 20:32084528-32084528 + YUJUBE COSM5391799 c.719C>T p.S240F Substitution - Missense 20:32084490-32084490 + WA48 COSM240079 c.1134C>G p.D378E Substitution - Missense 20:32093967-32093967 + TCGA-HT-7882-01 COSM3972505 c.519C>T p.S173S Substitution - coding silent 20:32079864-32079864 + TCGA-AA-3713-01 COSM1411039 c.1299C>T p.G433G Substitution - coding silent 20:32099119-32099119 + EKVX COSM1681603 c.510C>G p.I170M Substitution - Missense 20:32079855-32079855 + 3_PRE-TREATMENT COSM1723572 c.1360C>T p.R454W Substitution - Missense 20:32101361-32101361 + CHC892T COSM4960697 c.1067C>T p.P356L Substitution - Missense 20:32088619-32088619 + TCGA-EB-A431-01 COSM3545189 c.1442C>T p.P481L Substitution - Missense 20:32101443-32101443 + TCGA-D3-A1QB-06 COSM3545172 c.622G>A p.G208R Substitution - Missense 20:32084393-32084393 + CHC2216T COSM4805934 c.1227C>A p.N409K Substitution - Missense 20:32093997-32093997 + HCC174 COSM3707688 c.54G>A p.R18R Substitution - coding silent 20:32052478-32052478 + B78 COSM1751379 c.670G>C p.D224H Substitution - Missense 20:32084031-32084031 + 0045_CRUK_PC_0045_T1_DNA COSM4097484 c.552C>T p.N184N Substitution - coding silent 20:32083976-32083976 + TCGA-ER-A19P-06 COSM3545167 c.542C>T p.S181F Substitution - Missense 20:32083903-32083903 + pfg034T COSM4752007 c.512G>A p.G171E Substitution - Missense 20:32083936-32083936 + Au1 COSM5596828 c.265G>A p.E89K Substitution - Missense 20:32073817-32073817 + CSCC-20-T COSM4568042 c.97_98GG>AA p.G33K Substitution - Missense 20:32071696-32071697 + 40M COSM5585397 c.1470G>A p.M490I Substitution - Missense 20:32101408-32101408 + 2492721 COSM5724374 c.858G>A p.K286K Substitution - coding silent 20:32086650-32086650 + TCGA-AP-A0LM-01 COSM1025664 c.712C>T p.R238W Substitution - Missense 20:32084483-32084483 + TCGA-06-5414-01 COSM3405009 c.876G>A p.M292I Substitution - Missense 20:32086668-32086668 + TCGA-HQ-A2OE-01 COSM1307264 c.886C>T p.L296L Substitution - coding silent 20:32086741-32086741 + CHC2216T COSM4805934 c.1227C>A p.N409K Substitution - Missense 20:32093997-32093997 + AOCS-060-1-5 COSM4136811 c.859G>A p.V287M Substitution - Missense 20:32086714-32086714 + S02360 COSM5696156 c.1314A>C p.S438S Substitution - coding silent 20:32099071-32099071 + TCGA-13-0885-01 COSM74872 c.1165G>A p.E389K Substitution - Missense 20:32093998-32093998 + BD194T COSM5501303 c.1059G>C p.Q353H Substitution - Missense 20:32093892-32093892 + T2940 COSM4689614 c.943A>G p.M315V Substitution - Missense 20:32086798-32086798 + SNU-175 COSM2889016 c.1220C>T p.A407V Substitution - Missense 20:32099040-32099040 + B105-1 COSM1751377 c.467G>A p.R156H Substitution - Missense 20:32079812-32079812 + TCGA-EB-A42Y-01 COSM1411018 c.893C>T p.S298L Substitution - Missense 20:32086685-32086685 + 3_RESISTANT COSM1723571 c.1423C>T p.R475W Substitution - Missense 20:32101361-32101361 + YUWAND COSM1713328 c.1254C>G p.D418E Substitution - Missense 20:32099074-32099074 + C0007T COSM4164668 c.929T>A p.I310N Substitution - Missense 20:32086784-32086784 + sysucc-657T COSM5459978 c.952+8G>A p.? Unknown 20:32086815-32086815 + TCGA-06-5856-01 COSM3405008 c.154A>T p.I52F Substitution - Missense 20:32073352-32073352 + TCGA-DK-A2I4-01 COSM3799420 c.1219G>A p.E407K Substitution - Missense 20:32093989-32093989 + SC_9100 COSM5569896 c.1172C>T p.T391M Substitution - Missense 20:32094005-32094005 + PCSI_0124_Pa_P COSM3378976 c.66C>T p.S22S Substitution - coding silent 20:32071728-32071728 + PD0880a COSM20679 c.1133A>G p.D378G Substitution - Missense 20:32093966-32093966 + TCGA-D9-A4Z3-01 COSM3545162 c.18C>T p.S6S Substitution - coding silent 20:32071680-32071680 + ESCC-248T COSM3939296 c.1525A>T p.S509C Substitution - Missense 20:32101463-32101463 + PA285 COSM1163277 c.772G>T p.A258S Substitution - Missense 20:32084543-32084543 + YUJUBE COSM5391798 c.782C>T p.S261F Substitution - Missense 20:32084490-32084490 + TCGA-FW-A3R5-06 COSM3911080 c.1313C>T p.P438L Substitution - Missense 20:32099133-32099133 + SE1 COSM1165635 c.843C>T p.F281F Substitution - coding silent 20:32086698-32086698 + 1_RESISTANT COSM1719034 c.1419G>A p.W473* Substitution - Nonsense 20:32101420-32101420 + TCGA-12-0619 COSM42854 c.651G>A p.S217S Substitution - coding silent 20:32084422-32084422 + T155 COSM1176413 c.434T>G p.F145C Substitution - Missense 20:32079779-32079779 + TCGA-12-0619-01 COSM1559578 c.714G>A p.S238S Substitution - coding silent 20:32084422-32084422 + 2492723 COSM5724374 c.858G>A p.K286K Substitution - coding silent 20:32086650-32086650 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655210 20q11-q12 142370

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y515C c.1544A>G 20 30689285 LUSC A T Missense p.I372F c.1114A>T 20 30681687 LUAD A T Missense p.I73F c.217A>T 20 30661155 GBM C A Missense p.A121D c.362C>A 20 30662458 LUAD C A Missense p.A425D c.1274C>A 20 30686834 LUAD C A Missense p.H93Q c.279C>A 20 30661571 UCEC C A Missense p.Q220K c.658C>A 20 30671822 CLL C A Missense p.S183Y c.548C>A 20 30671712 LUAD C A Missense p.T412K c.1235C>A 20 30681808 UCEC C G Missense p.I329M c.987C>G 20 30674582 LUSC C G Missense p.P53R c.158C>G 20 30659560 CM C G Missense p.T194S c.581C>G 20 30671745 LUAD C T IntronicSNV . c.183+25C>T 20 30659610 CM C T IntronicSNV . c.227-174C>T 20 30661345 NSCLC C T Missense p.L233F c.697C>T 20 30672208 CM C T Missense p.P426S c.1276C>T 20 30686836 CM C T Missense p.P426S c.1276C>T 20 30686836 LUAD C T Missense p.P498L c.1493C>T 20 30689234 GBM C T Missense p.S181F c.542C>T 20 30671706 CM C T Missense p.S392F c.1175C>T 20 30681748 CM C T Synonymous p.F419F c.1257C>T 20 30686817 CM C T Synonymous p.L317L c.949C>T 20 30674544 BLCA C T Synonymous p.P328P c.984C>T 20 30674579 GBM C T Synonymous p.S261S c.783C>T 20 30672294 CM C T Synonymous p.T452T c.1356C>T 20 30686916 CM C T Synonymous p.V276V c.828C>T 20 30672339 CM G A 3-UTRSNV . c.1578+2G>A 20 30689321 CM - GAAAA IntronicInsertion . c.1246+698_1246+699insGAAAA 20 30682517 CLL G A Missense p.A134T c.400G>A 20 30662496 CM G A Missense p.A134T c.400G>A 20 30662496 HNSC G A Missense p.D224N c.670G>A 20 30671834 RCCC G A Missense p.E407K c.1219G>A 20 30681792 BLCA G A Missense p.E410K c.1228G>A 20 30681801 CM G A Missense p.E410K c.1228G>A 20 30681801 OV G A Missense p.E415K c.1243G>A 20 30681816 CM G A Missense p.G229R c.685G>A 20 30672196 CM G A Missense p.G23E c.68G>A 20 30659470 PAAD G A Missense p.G23R c.67G>A 20 30659469 STAD G A Missense p.G339E c.1016G>A 20 30676371 LUAD G A Missense p.G339E c.1016G>A 20 30676371 RCCC G A Missense p.G62E c.185G>A 20 30661123 LUSC G A Missense p.M292I c.876G>A 20 30674471 GBM G A Missense p.R492H c.1475G>A 20 30689216 BRCA G A Nonsense p.W423* c.1268G>A 20 30686828 CM G A Nonsense p.W423* c.1269G>A 20 30686829 STAD G A Synonymous p.K152K c.456G>A 20 30667604 CM G A Synonymous p.P61P c.183G>A 20 30659585 LUAD G A Synonymous p.Q235Q c.705G>A 20 30672216 CM G A Synonymous p.R375R c.1125G>A 20 30681698 CM G A Synonymous p.S238S c.714G>A 20 30672225 GBM G A Synonymous p.V323V c.969G>A 20 30674564 STAD G C Missense p.D153H c.457G>C 20 30667605 LUAD G - Frameshift p.E75Rfs*34 c.223delG 20 30661159 ESCA G T Missense p.A154S c.460G>T 20 30667608 LUAD G T Missense p.A370S c.1108G>T 20 30681681 LUAD G T Missense p.C482F c.1445G>T 20 30689186 LUSC G T Missense p.R404L c.1211G>T 20 30681784 STAD G T Nonsense p.E125* c.373G>T 20 30662469 LUAD G T Nonsense p.G269* c.805G>T 20 30672316 SCLC G T Synonymous p.L139L c.417G>T 20 30662513 LUAD T C Missense p.V405A c.1214T>C 20 30681787 GBM T - IntronicDeletion . c.183+20delG 20 30659605 HC