Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 6 135726087 135726087 + Splice_Site SNP A A C TCGA-OR-A5J4-01A-11D-A29I-10 TCGA-OR-A5J4-10A-01D-A29L-10 g.chr6:135726087A>C c.e20+1 ACC 6 135754223 135754223 + Missense_Mutation SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr6:135754223C>A c.2208G>T c.(2206-2208)ttG>ttT p.L736F ACC 6 135754324 135754324 + Missense_Mutation SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr6:135754324C>A c.2107G>T c.(2107-2109)Gct>Tct p.A703S BLCA 6 135679284 135679284 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr6:135679284C>G c.3151G>C c.(3151-3153)Gat>Cat p.D1051H BLCA 6 135726115 135726115 + Splice_Site SNP C C A TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr6:135726115C>A c.2962G>T c.(2962-2964)Gag>Tag p.E988* BLCA 6 135732643 135732643 + Missense_Mutation SNP C C A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr6:135732643C>A c.2804G>T c.(2803-2805)gGa>gTa p.G935V BLCA 6 135768262 135768262 + Missense_Mutation SNP C C G TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr6:135768262C>G c.1663G>C c.(1663-1665)Gag>Cag p.E555Q BLCA 6 135778639 135778639 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr6:135778639C>G c.1144G>C c.(1144-1146)Gat>Cat p.D382H BLCA 6 135787124 135787124 + Nonsense_Mutation SNP G G A TCGA-FD-A6TF-01A-52D-A32B-08 TCGA-FD-A6TF-10A-21D-A329-08 g.chr6:135787124G>A c.577C>T c.(577-579)Cag>Tag p.Q193* BLCA 6 135787429 135787429 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr6:135787429T>C c.272A>G c.(271-273)aAg>aGg p.K91R BRCA 6 135611584 135611584 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 g.chr6:135611584C>G c.3565G>C c.(3565-3567)Ggc>Cgc p.G1189R BRCA 6 135751072 135751072 + Missense_Mutation SNP G G A TCGA-D8-A1JB-01A-11D-A13L-09 TCGA-D8-A1JB-10A-01D-A13O-09 g.chr6:135751072G>A c.2440C>T c.(2440-2442)Cgt>Tgt p.R814C BRCA 6 135768202 135768202 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr6:135768202C>T c.1723G>A c.(1723-1725)Gaa>Aaa p.E575K BRCA 6 135776913 135776913 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr6:135776913G>A c.1303C>T c.(1303-1305)Cga>Tga p.R435* BRCA 6 135776985 135776985 + Missense_Mutation SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 g.chr6:135776985T>C c.1231A>G c.(1231-1233)Aaa>Gaa p.K411E BRCA 6 135778809 135778809 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr6:135778809T>C c.974A>G c.(973-975)gAa>gGa p.E325G BRCA 6 135787286 135787286 + Nonsense_Mutation SNP G G A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 g.chr6:135787286G>A c.415C>T c.(415-417)Caa>Taa p.Q139* BRCA 6 135787398 135787398 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr6:135787398C>G c.303G>C c.(301-303)ttG>ttC p.L101F BRCA 6 135787470 135787470 + Silent SNP A A T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 g.chr6:135787470A>T c.231T>A c.(229-231)acT>acA p.T77T CESC 6 135679284 135679284 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr6:135679284C>G c.3151G>C c.(3151-3153)Gat>Cat p.D1051H CESC 6 135751040 135751040 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr6:135751040C>G c.2472G>C c.(2470-2472)ttG>ttC p.L824F CESC 6 135769614 135769614 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr6:135769614C>G c.e10-1 CESC 6 135787166 135787166 + Missense_Mutation SNP C C G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 g.chr6:135787166C>G c.535G>C c.(535-537)Gag>Cag p.E179Q CHOL 6 135763821 135763821 + Nonsense_Mutation SNP G G T TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chr6:135763821G>T c.1811C>A c.(1810-1812)tCa>tAa p.S604* COAD 6 135644340 135644340 + Silent SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr6:135644340T>C c.3288A>G c.(3286-3288)ggA>ggG p.G1096G COAD 6 135749840 135749840 + Silent SNP A A G TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr6:135749840A>G c.2550T>C c.(2548-2550)acT>acC p.T850T COAD 6 135749840 135749840 + Silent SNP A A G TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr6:135749840A>G c.2550T>C c.(2548-2550)acT>acC p.T850T COAD 6 135749842 135749842 + Missense_Mutation SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr6:135749842T>C c.2548A>G c.(2548-2550)Act>Gct p.T850A COAD 6 135763775 135763775 + Silent SNP G G A TCGA-AA-3976-01A-01W-0995-10 TCGA-AA-3976-10A-01W-0999-10 g.chr6:135763775G>A c.1857C>T c.(1855-1857)caC>caT p.H619H COAD 6 135769532 135769532 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr6:135769532G>A c.1522C>T c.(1522-1524)Cca>Tca p.P508S COAD 6 135784443 135784443 + Splice_Site SNP T T C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr6:135784443T>C c.751A>G c.(751-753)Aca>Gca p.T251A COAD 6 135787349 135787349 + Nonsense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr6:135787349C>A c.352G>T c.(352-354)Gag>Tag p.E118* COAD 6 135787488 135787488 + Silent SNP A A G TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr6:135787488A>G c.213T>C c.(211-213)ctT>ctC p.L71L COAD 6 135787489 135787489 + Missense_Mutation SNP A A G TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr6:135787489A>G c.212T>C c.(211-213)cTt>cCt p.L71P COADREAD 6 135621647 135621647 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:135621647G>T c.3476C>A c.(3475-3477)tCt>tAt p.S1159Y COADREAD 6 135644340 135644340 + Silent SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr6:135644340T>C c.3288A>G c.(3286-3288)ggA>ggG p.G1096G COADREAD 6 135644340 135644340 + Silent SNP T T C TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr6:135644340T>C c.3288A>G c.(3286-3288)ggA>ggG p.G1096G COADREAD 6 135644405 135644405 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr6:135644405C>T c.3223G>A c.(3223-3225)Gga>Aga p.G1075R COADREAD 6 135679300 135679300 + Silent SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr6:135679300A>C c.3135T>G c.(3133-3135)ccT>ccG p.P1045P COADREAD 6 135749840 135749840 + Silent SNP A A G TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr6:135749840A>G c.2550T>C c.(2548-2550)acT>acC p.T850T COADREAD 6 135749840 135749840 + Silent SNP A A G TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr6:135749840A>G c.2550T>C c.(2548-2550)acT>acC p.T850T COADREAD 6 135749842 135749842 + Missense_Mutation SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr6:135749842T>C c.2548A>G c.(2548-2550)Act>Gct p.T850A COADREAD 6 135763775 135763775 + Silent SNP G G A TCGA-AA-3976-01A-01W-0995-10 TCGA-AA-3976-10A-01W-0999-10 g.chr6:135763775G>A c.1857C>T c.(1855-1857)caC>caT p.H619H COADREAD 6 135769531 135769531 + Missense_Mutation SNP G G A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr6:135769531G>A c.1523C>T c.(1522-1524)cCa>cTa p.P508L COADREAD 6 135769532 135769532 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr6:135769532G>A c.1522C>T c.(1522-1524)Cca>Tca p.P508S COADREAD 6 135778680 135778680 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:135778680A>C c.1103T>G c.(1102-1104)aTt>aGt p.I368S COADREAD 6 135784443 135784443 + Splice_Site SNP T T C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr6:135784443T>C c.751A>G c.(751-753)Aca>Gca p.T251A COADREAD 6 135787317 135787317 + Silent SNP C C T TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr6:135787317C>T c.384G>A c.(382-384)aaG>aaA p.K128K COADREAD 6 135787349 135787349 + Nonsense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr6:135787349C>A c.352G>T c.(352-354)Gag>Tag p.E118* COADREAD 6 135787488 135787488 + Silent SNP A A G TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr6:135787488A>G c.213T>C c.(211-213)ctT>ctC p.L71L COADREAD 6 135787489 135787489 + Missense_Mutation SNP A A G TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr6:135787489A>G c.212T>C c.(211-213)cTt>cCt p.L71P COADREAD 6 135811801 135811801 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:135811801T>G c.95A>C c.(94-96)aAa>aCa p.K32T ESCA 6 135784408 135784408 + Silent SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chr6:135784408T>C c.786A>G c.(784-786)gaA>gaG p.E262E ESCA 6 135787092 135787092 + Missense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr6:135787092C>A c.609G>T c.(607-609)gaG>gaT p.E203D GBM 6 135748441 135748441 + Silent SNP T T C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr6:135748441T>C c.2628A>G c.(2626-2628)gaA>gaG p.E876E GBMLGG 6 135732581 135732581 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:135732581G>A c.2866C>T c.(2866-2868)Ccc>Tcc p.P956S GBMLGG 6 135748441 135748441 + Silent SNP T T C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr6:135748441T>C c.2628A>G c.(2626-2628)gaA>gaG p.E876E GBMLGG 6 135754276 135754276 + Missense_Mutation SNP C C T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 g.chr6:135754276C>T c.2155G>A c.(2155-2157)Gat>Aat p.D719N GBMLGG 6 135784396 135784399 + Frame_Shift_Del DEL TTCT TTCT - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 g.chr6:135784396_135784399delTTCT c.795_798delAGAA c.(793-798)aaagaafs p.KE265fs GBMLGG 6 135787392 135787392 + Silent SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 g.chr6:135787392G>A c.309C>T c.(307-309)aaC>aaT p.N103N GBMLGG 6 135787489 135787489 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:135787489A>T c.212T>A c.(211-213)cTt>cAt p.L71H GBMLGG 6 135788751 135788751 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:135788751G>T c.157C>A c.(157-159)Ctt>Att p.L53I HNSC 6 135639718 135639718 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr6:135639718C>T c.3365G>A c.(3364-3366)cGa>cAa p.R1122Q HNSC 6 135639745 135639745 + Missense_Mutation SNP T T G TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr6:135639745T>G c.3338A>C c.(3337-3339)cAa>cCa p.Q1113P HNSC 6 135679271 135679271 + Splice_Site SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr6:135679271G>T c.3164C>A c.(3163-3165)aCg>aAg p.T1055K HNSC 6 135769486 135769486 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 g.chr6:135769486C>G c.1568G>C c.(1567-1569)aGa>aCa p.R523T HNSC 6 135778701 135778701 + Missense_Mutation SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 g.chr6:135778701A>G c.1082T>C c.(1081-1083)aTt>aCt p.I361T HNSC 6 135787271 135787271 + Nonsense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr6:135787271C>A c.430G>T c.(430-432)Gaa>Taa p.E144* HNSC 6 135788738 135788738 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr6:135788738T>C c.170A>G c.(169-171)aAa>aGa p.K57R HNSC 6 135811762 135811762 + Splice_Site SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr6:135811762G>A c.134C>T c.(133-135)tCa>tTa p.S45L KICH 6 135787070 135787070 + Missense_Mutation SNP T T C TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr6:135787070T>C c.631A>G c.(631-633)Aaa>Gaa p.K211E KIPAN 6 135644325 135644325 + Missense_Mutation SNP A A C TCGA-CZ-4857-01A-01D-1373-10 TCGA-CZ-4857-11A-01D-1373-10 g.chr6:135644325A>C c.3303T>G c.(3301-3303)ttT>ttG p.F1101L KIPAN 6 135644423 135644423 + Nonsense_Mutation SNP C C A TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr6:135644423C>A c.3205G>T c.(3205-3207)Gaa>Taa p.E1069* KIPAN 6 135732541 135732541 + Missense_Mutation SNP G G C TCGA-AL-3472-01A-01D-1252-08 TCGA-AL-3472-10A-01D-1252-08 g.chr6:135732541G>C c.2906C>G c.(2905-2907)aCt>aGt p.T969S KIPAN 6 135784363 135784363 + Silent SNP A A G TCGA-UZ-A9PL-01A-11D-A382-10 TCGA-UZ-A9PL-10A-01D-A385-10 g.chr6:135784363A>G c.831T>C c.(829-831)caT>caC p.H277H KIPAN 6 135787070 135787070 + Missense_Mutation SNP T T C TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr6:135787070T>C c.631A>G c.(631-633)Aaa>Gaa p.K211E KIRC 6 135644325 135644325 + Missense_Mutation SNP A A C TCGA-CZ-4857-01A-01D-1373-10 TCGA-CZ-4857-11A-01D-1373-10 g.chr6:135644325A>C c.3303T>G c.(3301-3303)ttT>ttG p.F1101L KIRP 6 135644423 135644423 + Nonsense_Mutation SNP C C A TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr6:135644423C>A c.3205G>T c.(3205-3207)Gaa>Taa p.E1069* KIRP 6 135732541 135732541 + Missense_Mutation SNP G G C TCGA-AL-3472-01A-01D-1252-08 TCGA-AL-3472-10A-01D-1252-08 g.chr6:135732541G>C c.2906C>G c.(2905-2907)aCt>aGt p.T969S KIRP 6 135784363 135784363 + Silent SNP A A G TCGA-UZ-A9PL-01A-11D-A382-10 TCGA-UZ-A9PL-10A-01D-A385-10 g.chr6:135784363A>G c.831T>C c.(829-831)caT>caC p.H277H LGG 6 135732581 135732581 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:135732581G>A c.2866C>T c.(2866-2868)Ccc>Tcc p.P956S LGG 6 135754276 135754276 + Missense_Mutation SNP C C T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 g.chr6:135754276C>T c.2155G>A c.(2155-2157)Gat>Aat p.D719N LGG 6 135784396 135784399 + Frame_Shift_Del DEL TTCT TTCT - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 g.chr6:135784396_135784399delTTCT c.795_798delAGAA c.(793-798)aaagaafs p.KE265fs LGG 6 135787392 135787392 + Silent SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 g.chr6:135787392G>A c.309C>T c.(307-309)aaC>aaT p.N103N LGG 6 135787489 135787489 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:135787489A>T c.212T>A c.(211-213)cTt>cAt p.L71H LGG 6 135788751 135788751 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:135788751G>T c.157C>A c.(157-159)Ctt>Att p.L53I LIHC 6 135644338 135644338 + Missense_Mutation SNP T T A TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr6:135644338T>A c.3290A>T c.(3289-3291)cAg>cTg p.Q1097L LIHC 6 135715921 135715921 + Silent SNP A A C TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr6:135715921A>C c.3102T>G c.(3100-3102)acT>acG p.T1034T LIHC 6 135768254 135768254 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr6:135768254delT c.1671delA c.(1669-1671)aaafs p.K557fs LIHC 6 135811800 135811800 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr6:135811800delT c.96delA c.(94-96)aaafs p.K32fs LUAD 6 135763829 135763829 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr6:135763829G>C c.1803C>G c.(1801-1803)caC>caG p.H601Q LUAD 6 135763846 135763846 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr6:135763846G>T c.1786C>A c.(1786-1788)Cgt>Agt p.R596S LUAD 6 135769452 135769452 + Silent SNP T T A TCGA-55-A494-01A-11D-A24P-08 TCGA-55-A494-10A-01D-A24P-08 g.chr6:135769452T>A c.1602A>T c.(1600-1602)gtA>gtT p.V534V LUAD 6 135776873 135776873 + Splice_Site SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chr6:135776873T>A c.1343A>T c.(1342-1344)gAg>gTg p.E448V LUAD 6 135776901 135776901 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 g.chr6:135776901C>T c.1315G>A c.(1315-1317)Gag>Aag p.E439K LUAD 6 135776961 135776961 + Missense_Mutation SNP C C G TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr6:135776961C>G c.1255G>C c.(1255-1257)Gag>Cag p.E419Q LUAD 6 135778795 135778795 + Missense_Mutation SNP C C A TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr6:135778795C>A c.988G>T c.(988-990)Gat>Tat p.D330Y LUAD 6 135778818 135778818 + Missense_Mutation SNP C C A TCGA-L9-A443-01A-12D-A24D-08 TCGA-L9-A443-10A-01D-A24F-08 g.chr6:135778818C>A c.965G>T c.(964-966)gGt>gTt p.G322V LUAD 6 135784321 135784321 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 g.chr6:135784321G>A c.873C>T c.(871-873)gaC>gaT p.D291D LUAD 6 135787398 135787398 + Missense_Mutation SNP C C G TCGA-44-3919-01A-02D-1458-08 TCGA-44-3919-10A-01D-1458-08 g.chr6:135787398C>G c.303G>C c.(301-303)ttG>ttC p.L101F LUSC 6 135611618 135611618 + Missense_Mutation SNP T T C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr6:135611618T>C c.3531A>G c.(3529-3531)atA>atG p.I1177M LUSC 6 135759594 135759594 + Frame_Shift_Del DEL C C - TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr6:135759594delC c.1955delG c.(1954-1956)ggcfs p.G652fs LUSC 6 135769471 135769471 + Missense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr6:135769471G>A c.1583C>T c.(1582-1584)tCa>tTa p.S528L LUSC 6 135769594 135769594 + Missense_Mutation SNP T T C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr6:135769594T>C c.1460A>G c.(1459-1461)aAt>aGt p.N487S LUSC 6 135784438 135784438 + Silent SNP C C T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr6:135784438C>T c.756G>A c.(754-756)ttG>ttA p.L252L LUSC 6 135811852 135811852 + Missense_Mutation SNP C C G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 g.chr6:135811852C>G c.44G>C c.(43-45)cGc>cCc p.R15P OV 6 135787489 135787489 + Missense_Mutation SNP A A G TCGA-24-0975-01B-02W-0486-08 TCGA-24-0975-10B-01W-0486-08 g.chr6:135787489A>G c.212T>C c.(211-213)cTt>cCt p.L71P PAAD 6 135763781 135763781 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:135763781G>T c.1851C>A c.(1849-1851)ttC>ttA p.F617L PAAD 6 135778797 135778797 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:135778797C>T c.986G>A c.(985-987)cGa>cAa p.R329Q PCPG 6 135752363 135752363 + Frame_Shift_Del DEL G G - TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 g.chr6:135752363delG c.2356delC c.(2356-2358)cacfs p.H786fs PRAD 6 135639719 135639719 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:135639719G>A c.3364C>T c.(3364-3366)Cga>Tga p.R1122* PRAD 6 135769461 135769461 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:135769461G>A c.1593C>T c.(1591-1593)taC>taT p.Y531Y PRAD 6 135787164 135787164 + Missense_Mutation SNP C C A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 g.chr6:135787164C>A c.537G>T c.(535-537)gaG>gaT p.E179D PRAD 6 135787209 135787209 + Silent SNP G G A TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 g.chr6:135787209G>A c.492C>T c.(490-492)ggC>ggT p.G164G READ 6 135621647 135621647 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:135621647G>T c.3476C>A c.(3475-3477)tCt>tAt p.S1159Y READ 6 135644340 135644340 + Silent SNP T T C TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr6:135644340T>C c.3288A>G c.(3286-3288)ggA>ggG p.G1096G READ 6 135644405 135644405 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr6:135644405C>T c.3223G>A c.(3223-3225)Gga>Aga p.G1075R READ 6 135679300 135679300 + Silent SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr6:135679300A>C c.3135T>G c.(3133-3135)ccT>ccG p.P1045P READ 6 135769531 135769531 + Missense_Mutation SNP G G A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr6:135769531G>A c.1523C>T c.(1522-1524)cCa>cTa p.P508L READ 6 135778680 135778680 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:135778680A>C c.1103T>G c.(1102-1104)aTt>aGt p.I368S READ 6 135787317 135787317 + Silent SNP C C T TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr6:135787317C>T c.384G>A c.(382-384)aaG>aaA p.K128K READ 6 135811801 135811801 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:135811801T>G c.95A>C c.(94-96)aAa>aCa p.K32T SKCM 6 135639733 135639733 + Missense_Mutation SNP G G A TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr6:135639733G>A c.3350C>T c.(3349-3351)cCt>cTt p.P1117L SKCM 6 135644312 135644312 + Missense_Mutation SNP C C T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 g.chr6:135644312C>T c.3316G>A c.(3316-3318)Gtg>Atg p.V1106M SKCM 6 135726089 135726089 + Splice_Site SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr6:135726089T>C c.2988A>G c.(2986-2988)aaA>aaG p.K996K SKCM 6 135787209 135787209 + Silent SNP G G C TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr6:135787209G>C c.492C>G c.(490-492)ggC>ggG p.G164G SKCM 6 135787487 135787487 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr6:135787487G>A c.214C>T c.(214-216)Ccc>Tcc p.P72S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 6 135679284 135679284 single base substitution C G 3_prime_UTR_variant BLCA-US 6 135679284 135679284 single base substitution C G exon_variant BLCA-US 6 135679284 135679284 single base substitution C G missense_variant D1051H 3151G>C BLCA-US 6 135679284 135679284 single base substitution C G missense_variant D405H 1213G>C BLCA-US 6 135679284 135679284 single base substitution C G missense_variant D550H 1648G>C BLCA-US 6 135787429 135787429 single base substitution T C exon_variant BLCA-US 6 135787429 135787429 single base substitution T C missense_variant K73R 218A>G BLCA-US 6 135787429 135787429 single base substitution T C missense_variant K91R 272A>G BOCA-FR 6 135814673 135814673 single base substitution A T intron_variant BOCA-FR 6 135814673 135814673 single base substitution A T upstream_gene_variant BRCA-EU 6 135600074 135600074 single base substitution T C downstream_gene_variant BRCA-EU 6 135602220 135602220 single base substitution G C downstream_gene_variant BRCA-EU 6 135605357 135605357 single base substitution T A 3_prime_UTR_variant BRCA-EU 6 135605357 135605357 single base substitution T A downstream_gene_variant BRCA-EU 6 135607654 135607654 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 135607654 135607654 single base substitution C T intron_variant BRCA-EU 6 135607726 135607726 single base substitution G T intron_variant BRCA-EU 6 135608579 135608579 single base substitution C G intron_variant BRCA-EU 6 135608973 135608973 single base substitution G A intron_variant BRCA-EU 6 135610290 135610290 single base substitution A T intron_variant BRCA-EU 6 135612097 135612097 single base substitution A G intron_variant BRCA-EU 6 135612283 135612283 deletion of <=200bp A - intron_variant BRCA-EU 6 135612829 135612829 single base substitution G A intron_variant BRCA-EU 6 135615734 135615734 single base substitution C A intron_variant BRCA-EU 6 135616471 135616471 single base substitution G T intron_variant BRCA-EU 6 135616728 135616728 single base substitution C T intron_variant BRCA-EU 6 135618621 135618621 single base substitution C G downstream_gene_variant BRCA-EU 6 135618621 135618621 single base substitution C G exon_variant BRCA-EU 6 135618621 135618621 single base substitution C G intron_variant BRCA-EU 6 135619922 135619922 single base substitution G T downstream_gene_variant BRCA-EU 6 135619922 135619922 single base substitution G T intron_variant BRCA-EU 6 135620123 135620123 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 135620123 135620123 deletion of <=200bp T - intron_variant BRCA-EU 6 135620417 135620417 single base substitution T A downstream_gene_variant BRCA-EU 6 135620417 135620417 single base substitution T A intron_variant BRCA-EU 6 135621083 135621083 single base substitution C G downstream_gene_variant BRCA-EU 6 135621083 135621083 single base substitution C G intron_variant BRCA-EU 6 135621856 135621856 single base substitution C G downstream_gene_variant BRCA-EU 6 135621856 135621856 single base substitution C G exon_variant BRCA-EU 6 135621856 135621856 single base substitution C G intron_variant BRCA-EU 6 135621856 135621856 single base substitution C G upstream_gene_variant BRCA-EU 6 135622236 135622236 single base substitution C G downstream_gene_variant BRCA-EU 6 135622236 135622236 single base substitution C G intron_variant BRCA-EU 6 135622236 135622236 single base substitution C G upstream_gene_variant BRCA-EU 6 135622381 135622381 single base substitution C T downstream_gene_variant BRCA-EU 6 135622381 135622381 single base substitution C T intron_variant BRCA-EU 6 135622381 135622381 single base substitution C T upstream_gene_variant BRCA-EU 6 135622984 135622984 single base substitution A C downstream_gene_variant BRCA-EU 6 135622984 135622984 single base substitution A C intron_variant BRCA-EU 6 135622984 135622984 single base substitution A C upstream_gene_variant BRCA-EU 6 135623590 135623590 single base substitution C T exon_variant BRCA-EU 6 135623590 135623590 single base substitution C T intron_variant BRCA-EU 6 135623590 135623590 single base substitution C T upstream_gene_variant BRCA-EU 6 135625590 135625590 single base substitution G A intron_variant BRCA-EU 6 135625590 135625590 single base substitution G A upstream_gene_variant BRCA-EU 6 135626325 135626325 deletion of <=200bp A - intron_variant BRCA-EU 6 135626325 135626325 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 135628285 135628285 single base substitution A G intron_variant BRCA-EU 6 135629168 135629168 single base substitution G T intron_variant BRCA-EU 6 135629458 135629458 single base substitution C T intron_variant BRCA-EU 6 135630270 135630270 single base substitution T C intron_variant BRCA-EU 6 135630314 135630314 single base substitution G C intron_variant BRCA-EU 6 135630853 135630853 single base substitution C T intron_variant BRCA-EU 6 135630919 135630919 single base substitution C T intron_variant BRCA-EU 6 135631932 135631932 single base substitution C G intron_variant BRCA-EU 6 135632175 135632175 single base substitution C G intron_variant BRCA-EU 6 135633223 135633223 single base substitution A T intron_variant BRCA-EU 6 135633345 135633345 single base substitution A T intron_variant BRCA-EU 6 135633536 135633536 single base substitution C T intron_variant BRCA-EU 6 135637815 135637815 single base substitution C A downstream_gene_variant BRCA-EU 6 135637815 135637815 single base substitution C A intron_variant BRCA-EU 6 135640053 135640053 single base substitution C A intron_variant BRCA-EU 6 135640653 135640653 single base substitution C T intron_variant BRCA-EU 6 135641763 135641763 single base substitution C G intron_variant BRCA-EU 6 135641951 135641951 single base substitution A G intron_variant BRCA-EU 6 135642315 135642315 single base substitution T A intron_variant BRCA-EU 6 135642393 135642393 single base substitution C A intron_variant BRCA-EU 6 135643056 135643056 single base substitution C T intron_variant BRCA-EU 6 135643442 135643442 single base substitution T C intron_variant BRCA-EU 6 135643538 135643538 single base substitution T C intron_variant BRCA-EU 6 135646277 135646277 single base substitution G T intron_variant BRCA-EU 6 135646277 135646277 single base substitution G T upstream_gene_variant BRCA-EU 6 135646918 135646918 single base substitution C G intron_variant BRCA-EU 6 135646918 135646918 single base substitution C G upstream_gene_variant BRCA-EU 6 135648086 135648086 single base substitution C G intron_variant BRCA-EU 6 135648086 135648086 single base substitution C G upstream_gene_variant BRCA-EU 6 135650761 135650763 deletion of <=200bp ACA - intron_variant BRCA-EU 6 135652390 135652390 single base substitution C A intron_variant BRCA-EU 6 135653542 135653542 single base substitution T A intron_variant BRCA-EU 6 135655603 135655603 single base substitution A C intron_variant BRCA-EU 6 135656036 135656036 single base substitution G A intron_variant BRCA-EU 6 135656373 135656373 deletion of <=200bp T - intron_variant BRCA-EU 6 135657066 135657066 single base substitution C A intron_variant BRCA-EU 6 135658297 135658297 deletion of <=200bp A - intron_variant BRCA-EU 6 135658823 135658823 single base substitution C T intron_variant BRCA-EU 6 135659234 135659234 single base substitution G A intron_variant BRCA-EU 6 135659856 135659856 single base substitution C T intron_variant BRCA-EU 6 135660139 135660139 single base substitution C A intron_variant BRCA-EU 6 135661128 135661128 single base substitution G T intron_variant BRCA-EU 6 135661163 135661163 single base substitution G T intron_variant BRCA-EU 6 135661170 135661170 single base substitution C G intron_variant BRCA-EU 6 135661329 135661329 single base substitution G C intron_variant BRCA-EU 6 135661553 135661553 single base substitution G C intron_variant BRCA-EU 6 135662917 135662917 single base substitution C T intron_variant BRCA-EU 6 135662999 135662999 single base substitution G T intron_variant BRCA-EU 6 135664186 135664186 deletion of <=200bp A - intron_variant BRCA-EU 6 135665229 135665229 single base substitution C T intron_variant BRCA-EU 6 135665844 135665844 single base substitution C T intron_variant BRCA-EU 6 135666401 135666401 single base substitution C G intron_variant BRCA-EU 6 135666526 135666526 single base substitution A C intron_variant BRCA-EU 6 135667453 135667453 single base substitution C G intron_variant BRCA-EU 6 135668069 135668069 single base substitution G C intron_variant BRCA-EU 6 135668499 135668499 single base substitution G A intron_variant BRCA-EU 6 135668640 135668640 single base substitution T C intron_variant BRCA-EU 6 135669097 135669097 deletion of <=200bp T - intron_variant BRCA-EU 6 135669464 135669464 single base substitution C G intron_variant BRCA-EU 6 135670263 135670263 single base substitution C T intron_variant BRCA-EU 6 135671751 135671751 deletion of <=200bp A - intron_variant BRCA-EU 6 135673127 135673127 single base substitution C G intron_variant BRCA-EU 6 135676829 135676829 single base substitution G C intron_variant BRCA-EU 6 135676963 135676963 single base substitution G A intron_variant BRCA-EU 6 135676966 135676966 single base substitution G A intron_variant BRCA-EU 6 135677217 135677217 single base substitution G T intron_variant BRCA-EU 6 135677410 135677410 single base substitution G C intron_variant BRCA-EU 6 135677421 135677421 single base substitution G A intron_variant BRCA-EU 6 135677495 135677495 single base substitution G A intron_variant BRCA-EU 6 135678201 135678201 single base substitution C T intron_variant BRCA-EU 6 135678377 135678377 single base substitution C G intron_variant BRCA-EU 6 135680116 135680116 single base substitution C T intron_variant BRCA-EU 6 135683728 135683728 single base substitution G T intron_variant BRCA-EU 6 135684164 135684164 single base substitution T A intron_variant BRCA-EU 6 135684393 135684393 single base substitution G C intron_variant BRCA-EU 6 135684432 135684432 single base substitution T A intron_variant BRCA-EU 6 135691847 135691847 single base substitution C G intron_variant BRCA-EU 6 135692194 135692194 single base substitution C G intron_variant BRCA-EU 6 135693907 135693907 single base substitution A C intron_variant BRCA-EU 6 135693949 135693949 single base substitution T C intron_variant BRCA-EU 6 135694008 135694008 single base substitution G C intron_variant BRCA-EU 6 135697556 135697556 single base substitution G T intron_variant BRCA-EU 6 135699904 135699904 single base substitution C T intron_variant BRCA-EU 6 135699995 135699995 deletion of <=200bp T - intron_variant BRCA-EU 6 135700457 135700457 single base substitution C T intron_variant BRCA-EU 6 135703493 135703493 deletion of <=200bp A - intron_variant BRCA-EU 6 135707479 135707479 single base substitution C T downstream_gene_variant BRCA-EU 6 135707479 135707479 single base substitution C T intron_variant BRCA-EU 6 135707565 135707565 single base substitution C T downstream_gene_variant BRCA-EU 6 135707565 135707565 single base substitution C T intron_variant BRCA-EU 6 135708358 135708358 single base substitution G A downstream_gene_variant BRCA-EU 6 135708358 135708358 single base substitution G A intron_variant BRCA-EU 6 135708515 135708515 single base substitution C T downstream_gene_variant BRCA-EU 6 135708515 135708515 single base substitution C T intron_variant BRCA-EU 6 135708956 135708956 single base substitution G T 3_prime_UTR_variant BRCA-EU 6 135708956 135708956 single base substitution G T intron_variant BRCA-EU 6 135709916 135709916 single base substitution G A intron_variant BRCA-EU 6 135712875 135712875 single base substitution G A downstream_gene_variant BRCA-EU 6 135712875 135712875 single base substitution G A intron_variant BRCA-EU 6 135713605 135713605 single base substitution C T downstream_gene_variant BRCA-EU 6 135713605 135713605 single base substitution C T intron_variant BRCA-EU 6 135713792 135713792 single base substitution T C downstream_gene_variant BRCA-EU 6 135713792 135713792 single base substitution T C intron_variant BRCA-EU 6 135714796 135714796 single base substitution T C downstream_gene_variant BRCA-EU 6 135714796 135714796 single base substitution T C intron_variant BRCA-EU 6 135717141 135717141 insertion of <=200bp - T intron_variant BRCA-EU 6 135719084 135719084 single base substitution C A intron_variant BRCA-EU 6 135719380 135719380 single base substitution C G intron_variant BRCA-EU 6 135720134 135720134 single base substitution C T intron_variant BRCA-EU 6 135721530 135721530 single base substitution C A intron_variant BRCA-EU 6 135721531 135721531 single base substitution T G intron_variant BRCA-EU 6 135721890 135721890 single base substitution C G intron_variant BRCA-EU 6 135722553 135722553 single base substitution G T intron_variant BRCA-EU 6 135725092 135725092 single base substitution C G intron_variant BRCA-EU 6 135725236 135725236 single base substitution C T intron_variant BRCA-EU 6 135725695 135725695 single base substitution C T intron_variant BRCA-EU 6 135725741 135725741 single base substitution C G intron_variant BRCA-EU 6 135727537 135727537 single base substitution C A intron_variant BRCA-EU 6 135728823 135728823 single base substitution T G intron_variant BRCA-EU 6 135728847 135728847 single base substitution C T intron_variant BRCA-EU 6 135729015 135729015 deletion of <=200bp A - intron_variant BRCA-EU 6 135731877 135731877 single base substitution C G intron_variant BRCA-EU 6 135732097 135732097 single base substitution C T intron_variant BRCA-EU 6 135733539 135733539 single base substitution T G intron_variant BRCA-EU 6 135733539 135733539 single base substitution T G upstream_gene_variant BRCA-EU 6 135734131 135734131 single base substitution T A intron_variant BRCA-EU 6 135734131 135734131 single base substitution T A upstream_gene_variant BRCA-EU 6 135737032 135737032 single base substitution C G intron_variant BRCA-EU 6 135737032 135737032 single base substitution C G upstream_gene_variant BRCA-EU 6 135737804 135737804 single base substitution C T intron_variant BRCA-EU 6 135738426 135738426 single base substitution A G intron_variant BRCA-EU 6 135740206 135740206 single base substitution T C intron_variant BRCA-EU 6 135740942 135740942 single base substitution C A intron_variant BRCA-EU 6 135741070 135741070 single base substitution C T intron_variant BRCA-EU 6 135742501 135742501 single base substitution G T intron_variant BRCA-EU 6 135743574 135743574 single base substitution G A intron_variant BRCA-EU 6 135744740 135744740 single base substitution G C intron_variant BRCA-EU 6 135744774 135744774 single base substitution C G intron_variant BRCA-EU 6 135745910 135745910 deletion of <=200bp A - intron_variant BRCA-EU 6 135750121 135750121 single base substitution G A intron_variant BRCA-EU 6 135751481 135751481 single base substitution C T intron_variant BRCA-EU 6 135752873 135752873 single base substitution T G intron_variant BRCA-EU 6 135753449 135753449 single base substitution C T intron_variant BRCA-EU 6 135754210 135754210 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 135754210 135754210 single base substitution C G exon_variant BRCA-EU 6 135754210 135754210 single base substitution C G missense_variant D240H 718G>C BRCA-EU 6 135754210 135754210 single base substitution C G missense_variant D741H 2221G>C BRCA-EU 6 135754210 135754210 single base substitution C G missense_variant D95H 283G>C BRCA-EU 6 135754218 135754218 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 135754218 135754218 single base substitution C T exon_variant BRCA-EU 6 135754218 135754218 single base substitution C T missense_variant R237Q 710G>A BRCA-EU 6 135754218 135754218 single base substitution C T missense_variant R738Q 2213G>A BRCA-EU 6 135754218 135754218 single base substitution C T missense_variant R92Q 275G>A BRCA-EU 6 135754442 135754442 single base substitution T C intron_variant BRCA-EU 6 135755785 135755785 single base substitution C G intron_variant BRCA-EU 6 135755841 135755841 single base substitution G T intron_variant BRCA-EU 6 135755876 135755876 single base substitution G T intron_variant BRCA-EU 6 135759022 135759022 single base substitution A G intron_variant BRCA-EU 6 135760863 135760863 single base substitution G A intron_variant BRCA-EU 6 135762714 135762714 single base substitution A C intron_variant BRCA-EU 6 135763506 135763506 single base substitution T C intron_variant BRCA-EU 6 135765301 135765301 single base substitution C G intron_variant BRCA-EU 6 135765301 135765301 single base substitution C G upstream_gene_variant BRCA-EU 6 135766692 135766692 single base substitution A T intron_variant BRCA-EU 6 135766692 135766692 single base substitution A T upstream_gene_variant BRCA-EU 6 135766886 135766886 single base substitution A T intron_variant BRCA-EU 6 135766886 135766886 single base substitution A T upstream_gene_variant BRCA-EU 6 135767561 135767561 single base substitution C A intron_variant BRCA-EU 6 135767561 135767561 single base substitution C A upstream_gene_variant BRCA-EU 6 135769508 135769508 single base substitution C A exon_variant BRCA-EU 6 135769508 135769508 single base substitution C A stop_gained E15* 43G>T BRCA-EU 6 135769508 135769508 single base substitution C A stop_gained E516* 1546G>T BRCA-EU 6 135771471 135771471 single base substitution A C intron_variant BRCA-EU 6 135771471 135771471 single base substitution A C upstream_gene_variant BRCA-EU 6 135772294 135772294 single base substitution C T intron_variant BRCA-EU 6 135772294 135772294 single base substitution C T upstream_gene_variant BRCA-EU 6 135772331 135772331 single base substitution C T intron_variant BRCA-EU 6 135772331 135772331 single base substitution C T upstream_gene_variant BRCA-EU 6 135773211 135773211 single base substitution C T intron_variant BRCA-EU 6 135773211 135773211 single base substitution C T upstream_gene_variant BRCA-EU 6 135773428 135773428 single base substitution C G intron_variant BRCA-EU 6 135773428 135773428 single base substitution C G upstream_gene_variant BRCA-EU 6 135774365 135774367 deletion of <=200bp ACA - intron_variant BRCA-EU 6 135774365 135774367 deletion of <=200bp ACA - upstream_gene_variant BRCA-EU 6 135774591 135774591 single base substitution A T intron_variant BRCA-EU 6 135774646 135774646 single base substitution T A intron_variant BRCA-EU 6 135775382 135775382 single base substitution T C intron_variant BRCA-EU 6 135776324 135776324 insertion of <=200bp - T intron_variant BRCA-EU 6 135777747 135777747 single base substitution T C intron_variant BRCA-EU 6 135778795 135778795 single base substitution C A exon_variant BRCA-EU 6 135778795 135778795 single base substitution C A missense_variant D330Y 988G>T BRCA-EU 6 135778988 135778988 single base substitution G T intron_variant BRCA-EU 6 135779015 135779015 single base substitution A G intron_variant BRCA-EU 6 135779494 135779494 single base substitution G C downstream_gene_variant BRCA-EU 6 135779494 135779494 single base substitution G C intron_variant BRCA-EU 6 135780627 135780627 single base substitution A C downstream_gene_variant BRCA-EU 6 135780627 135780627 single base substitution A C intron_variant BRCA-EU 6 135783544 135783544 single base substitution G A downstream_gene_variant BRCA-EU 6 135783544 135783544 single base substitution G A intron_variant BRCA-EU 6 135784284 135784284 insertion of <=200bp - T exon_variant BRCA-EU 6 135784284 135784284 insertion of <=200bp - T frameshift_variant T286N? BRCA-EU 6 135784284 135784284 insertion of <=200bp - T frameshift_variant T304N? BRCA-EU 6 135784503 135784503 single base substitution C T intron_variant BRCA-EU 6 135786329 135786329 single base substitution A C intron_variant BRCA-EU 6 135787686 135787686 single base substitution C G intron_variant BRCA-EU 6 135787873 135787873 single base substitution T C intron_variant BRCA-EU 6 135788904 135788904 single base substitution C G intron_variant BRCA-EU 6 135790615 135790615 single base substitution T A intron_variant BRCA-EU 6 135791271 135791271 single base substitution C T intron_variant BRCA-EU 6 135791588 135791588 single base substitution C G intron_variant BRCA-EU 6 135792375 135792375 single base substitution A T intron_variant BRCA-EU 6 135792506 135792506 single base substitution C T intron_variant BRCA-EU 6 135793541 135793541 single base substitution G C intron_variant BRCA-EU 6 135793786 135793786 single base substitution T C intron_variant BRCA-EU 6 135794452 135794452 single base substitution C G intron_variant BRCA-EU 6 135795327 135795327 single base substitution T C intron_variant BRCA-EU 6 135796441 135796441 single base substitution T A intron_variant BRCA-EU 6 135798554 135798554 single base substitution C A intron_variant BRCA-EU 6 135799297 135799297 single base substitution A T intron_variant BRCA-EU 6 135800087 135800087 single base substitution T C intron_variant BRCA-EU 6 135800721 135800721 deletion of <=200bp T - intron_variant BRCA-EU 6 135801019 135801019 single base substitution C G intron_variant BRCA-EU 6 135801897 135801897 single base substitution C T intron_variant BRCA-EU 6 135802861 135802861 deletion of <=200bp T - intron_variant BRCA-EU 6 135803334 135803334 single base substitution A T intron_variant BRCA-EU 6 135803422 135803422 single base substitution C G intron_variant BRCA-EU 6 135804534 135804534 single base substitution C G intron_variant BRCA-EU 6 135804547 135804547 single base substitution T G intron_variant BRCA-EU 6 135805463 135805463 single base substitution C T intron_variant BRCA-EU 6 135805869 135805869 single base substitution T G intron_variant BRCA-EU 6 135808568 135808568 single base substitution C T downstream_gene_variant BRCA-EU 6 135808568 135808568 single base substitution C T intron_variant BRCA-EU 6 135808805 135808805 single base substitution A C downstream_gene_variant BRCA-EU 6 135808805 135808805 single base substitution A C intron_variant BRCA-EU 6 135810472 135810472 single base substitution C T downstream_gene_variant BRCA-EU 6 135810472 135810472 single base substitution C T intron_variant BRCA-EU 6 135810534 135810534 single base substitution C T downstream_gene_variant BRCA-EU 6 135810534 135810534 single base substitution C T intron_variant BRCA-EU 6 135810660 135810660 single base substitution G A downstream_gene_variant BRCA-EU 6 135810660 135810660 single base substitution G A intron_variant BRCA-EU 6 135811078 135811078 single base substitution T G 3_prime_UTR_variant BRCA-EU 6 135811078 135811078 single base substitution T G downstream_gene_variant BRCA-EU 6 135811078 135811078 single base substitution T G intron_variant BRCA-EU 6 135811165 135811165 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 135811165 135811165 single base substitution G C downstream_gene_variant BRCA-EU 6 135811165 135811165 single base substitution G C intron_variant BRCA-EU 6 135813472 135813472 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 6 135813472 135813472 single base substitution A T intron_variant BRCA-EU 6 135815466 135815466 single base substitution A C intron_variant BRCA-EU 6 135815466 135815466 single base substitution A C upstream_gene_variant BRCA-EU 6 135816083 135816083 single base substitution G A intron_variant BRCA-EU 6 135816083 135816083 single base substitution G A upstream_gene_variant BRCA-EU 6 135817607 135817607 single base substitution A T intron_variant BRCA-EU 6 135817607 135817607 single base substitution A T upstream_gene_variant BRCA-EU 6 135817634 135817634 single base substitution A T intron_variant BRCA-EU 6 135817634 135817634 single base substitution A T upstream_gene_variant BRCA-EU 6 135818607 135818607 single base substitution C T intron_variant BRCA-EU 6 135818607 135818607 single base substitution C T upstream_gene_variant BRCA-EU 6 135818983 135818983 single base substitution C G upstream_gene_variant BRCA-EU 6 135819781 135819781 single base substitution G A upstream_gene_variant BRCA-EU 6 135822289 135822289 single base substitution C A upstream_gene_variant BRCA-EU 6 135822824 135822824 single base substitution G T upstream_gene_variant BRCA-EU 6 135822936 135822936 single base substitution T C upstream_gene_variant BRCA-EU 6 135822999 135822999 single base substitution A C upstream_gene_variant BRCA-EU 6 135823828 135823828 single base substitution C G upstream_gene_variant BRCA-FR 6 135604687 135604687 single base substitution T A 3_prime_UTR_variant BRCA-FR 6 135604687 135604687 single base substitution T A downstream_gene_variant BRCA-FR 6 135607382 135607382 single base substitution A T intron_variant BRCA-FR 6 135623590 135623590 single base substitution C T exon_variant BRCA-FR 6 135623590 135623590 single base substitution C T intron_variant BRCA-FR 6 135623590 135623590 single base substitution C T upstream_gene_variant BRCA-FR 6 135629458 135629458 single base substitution C T intron_variant BRCA-FR 6 135630853 135630853 single base substitution C T intron_variant BRCA-FR 6 135633345 135633345 single base substitution A T intron_variant BRCA-FR 6 135643538 135643538 single base substitution T C intron_variant BRCA-FR 6 135645395 135645395 single base substitution T C intron_variant BRCA-FR 6 135645395 135645395 single base substitution T C upstream_gene_variant BRCA-FR 6 135647575 135647575 single base substitution A T intron_variant BRCA-FR 6 135647575 135647575 single base substitution A T upstream_gene_variant BRCA-FR 6 135653542 135653542 single base substitution T A intron_variant BRCA-FR 6 135659856 135659856 single base substitution C T intron_variant BRCA-FR 6 135660139 135660139 single base substitution C A intron_variant BRCA-FR 6 135661170 135661170 single base substitution C G intron_variant BRCA-FR 6 135670263 135670263 single base substitution C T intron_variant BRCA-FR 6 135673839 135673839 single base substitution G A intron_variant BRCA-FR 6 135680058 135680058 single base substitution C T intron_variant BRCA-FR 6 135683771 135683771 single base substitution A T intron_variant BRCA-FR 6 135700457 135700457 single base substitution C T intron_variant BRCA-FR 6 135707565 135707565 single base substitution C T downstream_gene_variant BRCA-FR 6 135707565 135707565 single base substitution C T intron_variant BRCA-FR 6 135725810 135725810 single base substitution C G intron_variant BRCA-FR 6 135737032 135737032 single base substitution C G intron_variant BRCA-FR 6 135737032 135737032 single base substitution C G upstream_gene_variant BRCA-FR 6 135737804 135737804 single base substitution C T intron_variant BRCA-FR 6 135741070 135741070 single base substitution C T intron_variant BRCA-FR 6 135751481 135751481 single base substitution C T intron_variant BRCA-FR 6 135753449 135753449 single base substitution C T intron_variant BRCA-FR 6 135763506 135763506 single base substitution T C intron_variant BRCA-FR 6 135773211 135773211 single base substitution C T intron_variant BRCA-FR 6 135773211 135773211 single base substitution C T upstream_gene_variant BRCA-FR 6 135773428 135773428 single base substitution C G intron_variant BRCA-FR 6 135773428 135773428 single base substitution C G upstream_gene_variant BRCA-FR 6 135774646 135774646 single base substitution T A intron_variant BRCA-FR 6 135775382 135775382 single base substitution T C intron_variant BRCA-FR 6 135787686 135787686 single base substitution C G intron_variant BRCA-FR 6 135788023 135788023 single base substitution T A intron_variant BRCA-FR 6 135808568 135808568 single base substitution C T downstream_gene_variant BRCA-FR 6 135808568 135808568 single base substitution C T intron_variant BRCA-FR 6 135808908 135808908 single base substitution C G downstream_gene_variant BRCA-FR 6 135808908 135808908 single base substitution C G intron_variant BRCA-UK 6 135615104 135615104 single base substitution C G intron_variant BRCA-UK 6 135615907 135615907 single base substitution C G intron_variant BRCA-UK 6 135616754 135616754 single base substitution C T intron_variant BRCA-UK 6 135627913 135627913 single base substitution C T intron_variant BRCA-UK 6 135631932 135631932 single base substitution C G intron_variant BRCA-UK 6 135640053 135640053 single base substitution C A intron_variant BRCA-UK 6 135665229 135665229 single base substitution C T intron_variant BRCA-UK 6 135759214 135759214 single base substitution C T intron_variant BRCA-US 6 135611584 135611584 single base substitution C G 3_prime_UTR_variant BRCA-US 6 135611584 135611584 single base substitution C G exon_variant BRCA-US 6 135611584 135611584 single base substitution C G intron_variant BRCA-US 6 135611584 135611584 single base substitution C G missense_variant G1189R 3565G>C BRCA-US 6 135751072 135751072 single base substitution G A 3_prime_UTR_variant BRCA-US 6 135751072 135751072 single base substitution G A exon_variant BRCA-US 6 135751072 135751072 single base substitution G A missense_variant R168C 502C>T BRCA-US 6 135751072 135751072 single base substitution G A missense_variant R313C 937C>T BRCA-US 6 135751072 135751072 single base substitution G A missense_variant R814C 2440C>T BRCA-US 6 135768202 135768202 single base substitution C T exon_variant BRCA-US 6 135768202 135768202 single base substitution C T missense_variant E575K 1723G>A BRCA-US 6 135768202 135768202 single base substitution C T missense_variant E74K 220G>A BRCA-US 6 135768202 135768202 single base substitution C T upstream_gene_variant BRCA-US 6 135776913 135776913 single base substitution G A exon_variant BRCA-US 6 135776913 135776913 single base substitution G A stop_gained R435* 1303C>T BRCA-US 6 135776985 135776985 single base substitution T C exon_variant BRCA-US 6 135776985 135776985 single base substitution T C missense_variant K411E 1231A>G BRCA-US 6 135778809 135778809 single base substitution T C exon_variant BRCA-US 6 135778809 135778809 single base substitution T C missense_variant E325G 974A>G BRCA-US 6 135787286 135787286 single base substitution G A exon_variant BRCA-US 6 135787286 135787286 single base substitution G A stop_gained Q121* 361C>T BRCA-US 6 135787286 135787286 single base substitution G A stop_gained Q139* 415C>T BRCA-US 6 135787398 135787398 single base substitution C G exon_variant BRCA-US 6 135787398 135787398 single base substitution C G missense_variant L101F 303G>C BRCA-US 6 135787398 135787398 single base substitution C G missense_variant L83F 249G>C BRCA-US 6 135787470 135787470 single base substitution A T exon_variant BRCA-US 6 135787470 135787470 single base substitution A T synonymous_variant T59T 177T>A BRCA-US 6 135787470 135787470 single base substitution A T synonymous_variant T77T 231T>A BTCA-JP 6 135749845 135749845 single base substitution T C 3_prime_UTR_variant BTCA-JP 6 135749845 135749845 single base substitution T C exon_variant BTCA-JP 6 135749845 135749845 single base substitution T C missense_variant S203G 607A>G BTCA-JP 6 135749845 135749845 single base substitution T C missense_variant S348G 1042A>G BTCA-JP 6 135749845 135749845 single base substitution T C missense_variant S849G 2545A>G BTCA-JP 6 135751150 135751150 deletion of <=200bp A - intron_variant BTCA-JP 6 135763786 135763786 single base substitution C T 5_prime_UTR_variant BTCA-JP 6 135763786 135763786 single base substitution C T exon_variant BTCA-JP 6 135763786 135763786 single base substitution C T missense_variant D115N 343G>A BTCA-JP 6 135763786 135763786 single base substitution C T missense_variant D616N 1846G>A BTCA-JP 6 135774616 135774616 single base substitution A C intron_variant BTCA-JP 6 135776892 135776892 single base substitution T C exon_variant BTCA-JP 6 135776892 135776892 single base substitution T C missense_variant K442E 1324A>G BTCA-JP 6 135777071 135777071 deletion of <=200bp A - splice_region_variant BTCA-JP 6 135811470 135811470 single base substitution T C downstream_gene_variant BTCA-JP 6 135811470 135811470 single base substitution T C intron_variant CESC-US 6 135679284 135679284 single base substitution C G 3_prime_UTR_variant CESC-US 6 135679284 135679284 single base substitution C G exon_variant CESC-US 6 135679284 135679284 single base substitution C G missense_variant D1051H 3151G>C CESC-US 6 135679284 135679284 single base substitution C G missense_variant D405H 1213G>C CESC-US 6 135679284 135679284 single base substitution C G missense_variant D550H 1648G>C CESC-US 6 135751040 135751040 single base substitution C G 3_prime_UTR_variant CESC-US 6 135751040 135751040 single base substitution C G exon_variant CESC-US 6 135751040 135751040 single base substitution C G missense_variant L178F 534G>C CESC-US 6 135751040 135751040 single base substitution C G missense_variant L323F 969G>C CESC-US 6 135751040 135751040 single base substitution C G missense_variant L824F 2472G>C CESC-US 6 135769614 135769614 single base substitution C G splice_acceptor_variant CESC-US 6 135769614 135769614 single base substitution C G upstream_gene_variant CESC-US 6 135787166 135787166 single base substitution C G exon_variant CESC-US 6 135787166 135787166 single base substitution C G missense_variant E161Q 481G>C CESC-US 6 135787166 135787166 single base substitution C G missense_variant E179Q 535G>C CLLE-ES 6 135604650 135604650 single base substitution T C downstream_gene_variant CLLE-ES 6 135604901 135604901 single base substitution T C 3_prime_UTR_variant CLLE-ES 6 135604901 135604901 single base substitution T C downstream_gene_variant CLLE-ES 6 135613682 135613682 single base substitution T C intron_variant CLLE-ES 6 135614556 135614556 insertion of <=200bp - G intron_variant CLLE-ES 6 135615680 135615680 single base substitution A C intron_variant CLLE-ES 6 135632859 135632859 single base substitution A G intron_variant CLLE-ES 6 135633783 135633783 single base substitution T C intron_variant CLLE-ES 6 135664687 135664687 single base substitution C T intron_variant CLLE-ES 6 135686198 135686198 single base substitution C T intron_variant CLLE-ES 6 135715923 135715923 single base substitution T C 3_prime_UTR_variant CLLE-ES 6 135715923 135715923 single base substitution T C exon_variant CLLE-ES 6 135715923 135715923 single base substitution T C missense_variant T100A 298A>G CLLE-ES 6 135715923 135715923 single base substitution T C missense_variant T1034A 3100A>G CLLE-ES 6 135715923 135715923 single base substitution T C missense_variant T388A 1162A>G CLLE-ES 6 135715923 135715923 single base substitution T C missense_variant T533A 1597A>G CLLE-ES 6 135716544 135716544 single base substitution A G intron_variant CLLE-ES 6 135718992 135718994 deletion of <=200bp TGA - intron_variant CLLE-ES 6 135765376 135765376 single base substitution T A intron_variant CLLE-ES 6 135765376 135765376 single base substitution T A upstream_gene_variant CLLE-ES 6 135772572 135772572 single base substitution C A intron_variant CLLE-ES 6 135772572 135772572 single base substitution C A upstream_gene_variant CLLE-ES 6 135783077 135783077 single base substitution G C downstream_gene_variant CLLE-ES 6 135783077 135783077 single base substitution G C intron_variant COAD-US 6 135784283 135784283 insertion of <=200bp - T exon_variant COAD-US 6 135784283 135784283 insertion of <=200bp - T frameshift_variant T286T? COAD-US 6 135784283 135784283 insertion of <=200bp - T frameshift_variant T304T? COAD-US 6 135784283 135784283 single base substitution G T exon_variant COAD-US 6 135784283 135784283 single base substitution G T missense_variant T286K 857C>A COAD-US 6 135784283 135784283 single base substitution G T missense_variant T304K 911C>A COAD-US 6 135787349 135787349 single base substitution C A exon_variant COAD-US 6 135787349 135787349 single base substitution C A stop_gained E100* 298G>T COAD-US 6 135787349 135787349 single base substitution C A stop_gained E118* 352G>T COCA-CN 6 135603566 135603566 single base substitution T A downstream_gene_variant COCA-CN 6 135606755 135606755 single base substitution C G 3_prime_UTR_variant COCA-CN 6 135606755 135606755 single base substitution C G exon_variant COCA-CN 6 135611685 135611685 single base substitution A G intron_variant COCA-CN 6 135613279 135613279 single base substitution A T intron_variant COCA-CN 6 135623753 135623753 single base substitution G A exon_variant COCA-CN 6 135623753 135623753 single base substitution G A intron_variant COCA-CN 6 135623753 135623753 single base substitution G A upstream_gene_variant COCA-CN 6 135623755 135623755 single base substitution T A exon_variant COCA-CN 6 135623755 135623755 single base substitution T A intron_variant COCA-CN 6 135623755 135623755 single base substitution T A upstream_gene_variant COCA-CN 6 135645693 135645693 single base substitution T C intron_variant COCA-CN 6 135645693 135645693 single base substitution T C upstream_gene_variant COCA-CN 6 135646457 135646457 single base substitution G A intron_variant COCA-CN 6 135646457 135646457 single base substitution G A upstream_gene_variant COCA-CN 6 135693669 135693669 single base substitution G A intron_variant COCA-CN 6 135732436 135732436 single base substitution A C intron_variant COCA-CN 6 135734616 135734616 single base substitution G A intron_variant COCA-CN 6 135734616 135734616 single base substitution G A upstream_gene_variant COCA-CN 6 135749912 135749912 single base substitution G T intron_variant COCA-CN 6 135751362 135751362 single base substitution G A intron_variant COCA-CN 6 135752553 135752553 single base substitution G T intron_variant COCA-CN 6 135754193 135754193 single base substitution A T 3_prime_UTR_variant COCA-CN 6 135754193 135754193 single base substitution A T exon_variant COCA-CN 6 135754193 135754193 single base substitution A T missense_variant F100L 300T>A COCA-CN 6 135754193 135754193 single base substitution A T missense_variant F245L 735T>A COCA-CN 6 135754193 135754193 single base substitution A T missense_variant F746L 2238T>A COCA-CN 6 135762937 135762937 single base substitution G T intron_variant COCA-CN 6 135773048 135773048 single base substitution T G intron_variant COCA-CN 6 135773048 135773048 single base substitution T G upstream_gene_variant COCA-CN 6 135773050 135773050 single base substitution A T intron_variant COCA-CN 6 135773050 135773050 single base substitution A T upstream_gene_variant COCA-CN 6 135773053 135773053 single base substitution G T intron_variant COCA-CN 6 135773053 135773053 single base substitution G T upstream_gene_variant COCA-CN 6 135773054 135773054 single base substitution A C intron_variant COCA-CN 6 135773054 135773054 single base substitution A C upstream_gene_variant COCA-CN 6 135777004 135777004 single base substitution C A exon_variant COCA-CN 6 135777004 135777004 single base substitution C A missense_variant M404I 1212G>T COCA-CN 6 135788792 135788792 single base substitution A G intron_variant EOPC-DE 6 135691254 135691254 single base substitution G A intron_variant EOPC-DE 6 135698366 135698366 single base substitution G T intron_variant EOPC-DE 6 135754325 135754325 single base substitution C T 3_prime_UTR_variant EOPC-DE 6 135754325 135754325 single base substitution C T exon_variant EOPC-DE 6 135754325 135754325 single base substitution C T synonymous_variant T201T 603G>A EOPC-DE 6 135754325 135754325 single base substitution C T synonymous_variant T56T 168G>A EOPC-DE 6 135754325 135754325 single base substitution C T synonymous_variant T702T 2106G>A EOPC-DE 6 135762815 135762815 single base substitution A T intron_variant ESAD-UK 6 135599960 135599960 single base substitution G A downstream_gene_variant ESAD-UK 6 135600268 135600268 single base substitution G A downstream_gene_variant ESAD-UK 6 135604715 135604715 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 135604715 135604715 single base substitution C T downstream_gene_variant ESAD-UK 6 135606624 135606624 single base substitution T C 3_prime_UTR_variant ESAD-UK 6 135606624 135606624 single base substitution T C exon_variant ESAD-UK 6 135606755 135606755 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 135606755 135606755 single base substitution C T exon_variant ESAD-UK 6 135608462 135608462 single base substitution T C intron_variant ESAD-UK 6 135609544 135609544 single base substitution G A intron_variant ESAD-UK 6 135611455 135611455 single base substitution C T intron_variant ESAD-UK 6 135613687 135613687 single base substitution A T intron_variant ESAD-UK 6 135613949 135613949 single base substitution A G intron_variant ESAD-UK 6 135616433 135616433 single base substitution T C intron_variant ESAD-UK 6 135617083 135617083 single base substitution C T intron_variant ESAD-UK 6 135618038 135618038 single base substitution C A intron_variant ESAD-UK 6 135620043 135620043 single base substitution G C downstream_gene_variant ESAD-UK 6 135620043 135620043 single base substitution G C intron_variant ESAD-UK 6 135624097 135624097 single base substitution T C intron_variant ESAD-UK 6 135624097 135624097 single base substitution T C upstream_gene_variant ESAD-UK 6 135624591 135624591 single base substitution G A intron_variant ESAD-UK 6 135624591 135624591 single base substitution G A upstream_gene_variant ESAD-UK 6 135625841 135625841 single base substitution G A intron_variant ESAD-UK 6 135625841 135625841 single base substitution G A upstream_gene_variant ESAD-UK 6 135626132 135626132 single base substitution T G intron_variant ESAD-UK 6 135626132 135626132 single base substitution T G upstream_gene_variant ESAD-UK 6 135633066 135633066 single base substitution C G intron_variant ESAD-UK 6 135634244 135634244 single base substitution T C intron_variant ESAD-UK 6 135638002 135638002 single base substitution C T downstream_gene_variant ESAD-UK 6 135638002 135638002 single base substitution C T intron_variant ESAD-UK 6 135639882 135639882 single base substitution G C intron_variant ESAD-UK 6 135641580 135641580 single base substitution T C intron_variant ESAD-UK 6 135642302 135642302 single base substitution G A intron_variant ESAD-UK 6 135642352 135642352 single base substitution G A intron_variant ESAD-UK 6 135644123 135644123 single base substitution C T intron_variant ESAD-UK 6 135646553 135646553 single base substitution C T intron_variant ESAD-UK 6 135646553 135646553 single base substitution C T upstream_gene_variant ESAD-UK 6 135647082 135647082 single base substitution A T intron_variant ESAD-UK 6 135647082 135647082 single base substitution A T upstream_gene_variant ESAD-UK 6 135650345 135650345 single base substitution C T intron_variant ESAD-UK 6 135650545 135650545 single base substitution G A intron_variant ESAD-UK 6 135650953 135650953 single base substitution C T intron_variant ESAD-UK 6 135650966 135650966 single base substitution C T intron_variant ESAD-UK 6 135651005 135651005 single base substitution T C intron_variant ESAD-UK 6 135651170 135651170 single base substitution G C intron_variant ESAD-UK 6 135660422 135660422 single base substitution C T intron_variant ESAD-UK 6 135661541 135661541 single base substitution A C intron_variant ESAD-UK 6 135664209 135664209 single base substitution C A intron_variant ESAD-UK 6 135664371 135664371 deletion of <=200bp A - intron_variant ESAD-UK 6 135671751 135671751 single base substitution A G intron_variant ESAD-UK 6 135673749 135673749 single base substitution A G intron_variant ESAD-UK 6 135673841 135673841 single base substitution A G intron_variant ESAD-UK 6 135674066 135674066 single base substitution A T intron_variant ESAD-UK 6 135676164 135676164 single base substitution A G intron_variant ESAD-UK 6 135676589 135676589 single base substitution A T intron_variant ESAD-UK 6 135677427 135677427 deletion of <=200bp T - intron_variant ESAD-UK 6 135677825 135677825 single base substitution T C intron_variant ESAD-UK 6 135680295 135680295 single base substitution G A intron_variant ESAD-UK 6 135683021 135683021 single base substitution G A intron_variant ESAD-UK 6 135683423 135683423 deletion of <=200bp T - intron_variant ESAD-UK 6 135686234 135686234 single base substitution G A intron_variant ESAD-UK 6 135688064 135688064 single base substitution T G intron_variant ESAD-UK 6 135689241 135689241 single base substitution G A intron_variant ESAD-UK 6 135689940 135689940 single base substitution T G intron_variant ESAD-UK 6 135691737 135691740 deletion of <=200bp TGTT - intron_variant ESAD-UK 6 135693239 135693239 single base substitution G A intron_variant ESAD-UK 6 135694388 135694388 single base substitution T C intron_variant ESAD-UK 6 135694390 135694390 single base substitution T A intron_variant ESAD-UK 6 135694984 135694984 single base substitution T C intron_variant ESAD-UK 6 135695516 135695516 single base substitution C G intron_variant ESAD-UK 6 135696605 135696607 deletion of <=200bp GAA - intron_variant ESAD-UK 6 135696852 135696852 single base substitution G A intron_variant ESAD-UK 6 135696932 135696932 single base substitution T C intron_variant ESAD-UK 6 135701884 135701884 single base substitution A C intron_variant ESAD-UK 6 135702324 135702324 deletion of <=200bp G - intron_variant ESAD-UK 6 135704242 135704242 single base substitution A C downstream_gene_variant ESAD-UK 6 135704242 135704242 single base substitution A C intron_variant ESAD-UK 6 135707126 135707126 single base substitution G T downstream_gene_variant ESAD-UK 6 135707126 135707126 single base substitution G T intron_variant ESAD-UK 6 135707273 135707273 single base substitution G C downstream_gene_variant ESAD-UK 6 135707273 135707273 single base substitution G C intron_variant ESAD-UK 6 135708240 135708240 single base substitution C T downstream_gene_variant ESAD-UK 6 135708240 135708240 single base substitution C T intron_variant ESAD-UK 6 135710835 135710835 single base substitution T C downstream_gene_variant ESAD-UK 6 135710835 135710835 single base substitution T C intron_variant ESAD-UK 6 135711150 135711150 deletion of <=200bp T - downstream_gene_variant ESAD-UK 6 135711150 135711150 deletion of <=200bp T - intron_variant ESAD-UK 6 135713868 135713868 single base substitution A T downstream_gene_variant ESAD-UK 6 135713868 135713868 single base substitution A T intron_variant ESAD-UK 6 135714691 135714691 single base substitution C T downstream_gene_variant ESAD-UK 6 135714691 135714691 single base substitution C T intron_variant ESAD-UK 6 135715162 135715162 single base substitution C A downstream_gene_variant ESAD-UK 6 135715162 135715162 single base substitution C A intron_variant ESAD-UK 6 135715207 135715207 single base substitution C A downstream_gene_variant ESAD-UK 6 135715207 135715207 single base substitution C A intron_variant ESAD-UK 6 135716420 135716420 single base substitution G A intron_variant ESAD-UK 6 135717308 135717308 single base substitution A G intron_variant ESAD-UK 6 135718075 135718075 single base substitution T G intron_variant ESAD-UK 6 135718135 135718135 deletion of <=200bp A - intron_variant ESAD-UK 6 135719648 135719648 single base substitution G A intron_variant ESAD-UK 6 135721037 135721037 insertion of <=200bp - T intron_variant ESAD-UK 6 135723676 135723676 single base substitution C T intron_variant ESAD-UK 6 135726844 135726844 deletion of <=200bp A - intron_variant ESAD-UK 6 135726848 135726848 single base substitution A T intron_variant ESAD-UK 6 135730306 135730306 single base substitution T C intron_variant ESAD-UK 6 135733284 135733284 single base substitution C T intron_variant ESAD-UK 6 135733284 135733284 single base substitution C T upstream_gene_variant ESAD-UK 6 135733312 135733312 deletion of <=200bp A - intron_variant ESAD-UK 6 135733312 135733312 deletion of <=200bp A - upstream_gene_variant ESAD-UK 6 135735816 135735816 deletion of <=200bp A - intron_variant ESAD-UK 6 135735816 135735816 deletion of <=200bp A - upstream_gene_variant ESAD-UK 6 135739906 135739906 single base substitution C A intron_variant ESAD-UK 6 135740762 135740762 deletion of <=200bp A - intron_variant ESAD-UK 6 135741465 135741465 single base substitution C T intron_variant ESAD-UK 6 135743622 135743622 single base substitution T C intron_variant ESAD-UK 6 135743707 135743707 single base substitution A C intron_variant ESAD-UK 6 135746805 135746805 single base substitution G C intron_variant ESAD-UK 6 135753553 135753553 single base substitution C T intron_variant ESAD-UK 6 135754503 135754503 single base substitution C T intron_variant ESAD-UK 6 135754832 135754832 single base substitution G C intron_variant ESAD-UK 6 135755844 135755844 insertion of <=200bp - A intron_variant ESAD-UK 6 135757103 135757103 single base substitution G A intron_variant ESAD-UK 6 135757751 135757751 single base substitution T A intron_variant ESAD-UK 6 135758032 135758032 single base substitution G A intron_variant ESAD-UK 6 135759253 135759253 single base substitution T A intron_variant ESAD-UK 6 135759270 135759270 single base substitution G A intron_variant ESAD-UK 6 135763271 135763271 single base substitution T G intron_variant ESAD-UK 6 135766047 135766048 deletion of <=200bp AG - intron_variant ESAD-UK 6 135766047 135766048 deletion of <=200bp AG - upstream_gene_variant ESAD-UK 6 135767066 135767066 single base substitution C T intron_variant ESAD-UK 6 135767066 135767066 single base substitution C T upstream_gene_variant ESAD-UK 6 135768254 135768254 insertion of <=200bp - T exon_variant ESAD-UK 6 135768254 135768254 insertion of <=200bp - T frameshift_variant K557K? ESAD-UK 6 135768254 135768254 insertion of <=200bp - T frameshift_variant K56K? ESAD-UK 6 135768254 135768254 insertion of <=200bp - T upstream_gene_variant ESAD-UK 6 135770732 135770732 deletion of <=200bp A - intron_variant ESAD-UK 6 135770732 135770732 deletion of <=200bp A - upstream_gene_variant ESAD-UK 6 135771338 135771338 single base substitution G A intron_variant ESAD-UK 6 135771338 135771338 single base substitution G A upstream_gene_variant ESAD-UK 6 135775611 135775611 single base substitution A T intron_variant ESAD-UK 6 135781094 135781094 single base substitution C T downstream_gene_variant ESAD-UK 6 135781094 135781094 single base substitution C T intron_variant ESAD-UK 6 135784730 135784730 single base substitution T A intron_variant ESAD-UK 6 135786322 135786322 deletion of <=200bp G - intron_variant ESAD-UK 6 135788909 135788909 single base substitution T A intron_variant ESAD-UK 6 135789310 135789310 single base substitution C T intron_variant ESAD-UK 6 135791044 135791044 single base substitution G A intron_variant ESAD-UK 6 135791654 135791654 single base substitution G A intron_variant ESAD-UK 6 135794217 135794217 single base substitution A C intron_variant ESAD-UK 6 135796000 135796000 single base substitution G T intron_variant ESAD-UK 6 135796683 135796683 single base substitution C T intron_variant ESAD-UK 6 135798128 135798128 single base substitution A C intron_variant ESAD-UK 6 135801927 135801927 single base substitution T C intron_variant ESAD-UK 6 135807133 135807133 single base substitution T G downstream_gene_variant ESAD-UK 6 135807133 135807133 single base substitution T G intron_variant ESAD-UK 6 135808672 135808672 deletion of <=200bp A - downstream_gene_variant ESAD-UK 6 135808672 135808672 deletion of <=200bp A - intron_variant ESAD-UK 6 135809714 135809714 deletion of <=200bp A - downstream_gene_variant ESAD-UK 6 135809714 135809714 deletion of <=200bp A - intron_variant ESAD-UK 6 135811045 135811045 single base substitution A C downstream_gene_variant ESAD-UK 6 135811045 135811045 single base substitution A C intron_variant ESAD-UK 6 135813223 135813223 single base substitution A G downstream_gene_variant ESAD-UK 6 135813223 135813223 single base substitution A G intron_variant ESAD-UK 6 135813672 135813672 deletion of <=200bp A - intron_variant ESAD-UK 6 135813672 135813672 deletion of <=200bp A - upstream_gene_variant ESAD-UK 6 135813790 135813790 single base substitution G T intron_variant ESAD-UK 6 135813790 135813790 single base substitution G T upstream_gene_variant ESAD-UK 6 135817180 135817180 single base substitution G T intron_variant ESAD-UK 6 135817180 135817180 single base substitution G T upstream_gene_variant ESAD-UK 6 135817938 135817938 single base substitution T A intron_variant ESAD-UK 6 135817938 135817938 single base substitution T A upstream_gene_variant ESAD-UK 6 135817939 135817939 single base substitution C T intron_variant ESAD-UK 6 135817939 135817939 single base substitution C T upstream_gene_variant ESAD-UK 6 135820292 135820292 single base substitution C A upstream_gene_variant ESAD-UK 6 135823349 135823349 insertion of <=200bp - TA upstream_gene_variant ESCA-CN 6 135749803 135749803 single base substitution C T 3_prime_UTR_variant ESCA-CN 6 135749803 135749803 single base substitution C T exon_variant ESCA-CN 6 135749803 135749803 single base substitution C T missense_variant E217K 649G>A ESCA-CN 6 135749803 135749803 single base substitution C T missense_variant E362K 1084G>A ESCA-CN 6 135749803 135749803 single base substitution C T missense_variant E863K 2587G>A ESCA-CN 6 135787273 135787273 single base substitution G A exon_variant ESCA-CN 6 135787273 135787273 single base substitution G A missense_variant P125L 374C>T ESCA-CN 6 135787273 135787273 single base substitution G A missense_variant P143L 428C>T ESCA-CN 6 135811847 135811847 single base substitution C G downstream_gene_variant ESCA-CN 6 135811847 135811847 single base substitution C G exon_variant ESCA-CN 6 135811847 135811847 single base substitution C G missense_variant E17Q 49G>C KIRC-US 6 135644325 135644325 single base substitution A C exon_variant KIRC-US 6 135644325 135644325 single base substitution A C intron_variant KIRC-US 6 135644325 135644325 single base substitution A C missense_variant F1101L 3303T>G KIRC-US 6 135644325 135644325 single base substitution A C missense_variant F455L 1365T>G KIRC-US 6 135644325 135644325 single base substitution A C missense_variant F600L 1800T>G KIRP-US 6 135644423 135644423 single base substitution C A exon_variant KIRP-US 6 135644423 135644423 single base substitution C A intron_variant KIRP-US 6 135644423 135644423 single base substitution C A stop_gained E1069* 3205G>T KIRP-US 6 135644423 135644423 single base substitution C A stop_gained E423* 1267G>T KIRP-US 6 135644423 135644423 single base substitution C A stop_gained E568* 1702G>T KIRP-US 6 135732541 135732541 single base substitution G C 3_prime_UTR_variant KIRP-US 6 135732541 135732541 single base substitution G C exon_variant KIRP-US 6 135732541 135732541 single base substitution G C missense_variant T323S 968C>G KIRP-US 6 135732541 135732541 single base substitution G C missense_variant T35S 104C>G KIRP-US 6 135732541 135732541 single base substitution G C missense_variant T468S 1403C>G KIRP-US 6 135732541 135732541 single base substitution G C missense_variant T969S 2906C>G KIRP-US 6 135784313 135784313 single base substitution T C exon_variant KIRP-US 6 135784313 135784313 single base substitution T C missense_variant Q276R 827A>G KIRP-US 6 135784313 135784313 single base substitution T C missense_variant Q294R 881A>G LAML-KR 6 135606755 135606755 single base substitution C G 3_prime_UTR_variant LAML-KR 6 135606755 135606755 single base substitution C G exon_variant LAML-KR 6 135684785 135684785 single base substitution T C intron_variant LAML-KR 6 135684808 135684808 single base substitution G A intron_variant LAML-KR 6 135740106 135740106 single base substitution A T intron_variant LGG-US 6 135787392 135787392 single base substitution G A exon_variant LGG-US 6 135787392 135787392 single base substitution G A synonymous_variant N103N 309C>T LGG-US 6 135787392 135787392 single base substitution G A synonymous_variant N85N 255C>T LICA-CN 6 135621656 135621656 single base substitution C G 3_prime_UTR_variant LICA-CN 6 135621656 135621656 single base substitution C G downstream_gene_variant LICA-CN 6 135621656 135621656 single base substitution C G exon_variant LICA-CN 6 135621656 135621656 single base substitution C G missense_variant G1156A 3467G>C LICA-CN 6 135621656 135621656 single base substitution C G missense_variant G655A 1964G>C LICA-FR 6 135605026 135605026 single base substitution C A 3_prime_UTR_variant LICA-FR 6 135605026 135605026 single base substitution C A downstream_gene_variant LICA-FR 6 135642363 135642363 single base substitution T G intron_variant LICA-FR 6 135656329 135656329 single base substitution G A intron_variant LICA-FR 6 135684235 135684235 single base substitution G A intron_variant LICA-FR 6 135685427 135685427 single base substitution C T intron_variant LICA-FR 6 135741827 135741827 single base substitution C G intron_variant LICA-FR 6 135742574 135742574 single base substitution C T intron_variant LICA-FR 6 135748431 135748431 single base substitution T C 3_prime_UTR_variant LICA-FR 6 135748431 135748431 single base substitution T C exon_variant LICA-FR 6 135748431 135748431 single base substitution T C missense_variant M234V 700A>G LICA-FR 6 135748431 135748431 single base substitution T C missense_variant M379V 1135A>G LICA-FR 6 135748431 135748431 single base substitution T C missense_variant M880V 2638A>G LICA-FR 6 135772429 135772429 single base substitution C A intron_variant LICA-FR 6 135772429 135772429 single base substitution C A upstream_gene_variant LICA-FR 6 135778775 135778775 single base substitution T C exon_variant LICA-FR 6 135778775 135778775 single base substitution T C synonymous_variant K336K 1008A>G LICA-FR 6 135811821 135811821 single base substitution A G downstream_gene_variant LICA-FR 6 135811821 135811821 single base substitution A G exon_variant LICA-FR 6 135811821 135811821 single base substitution A G synonymous_variant D25D 75T>C LICA-FR 6 135822423 135822423 single base substitution A G upstream_gene_variant LIHC-US 6 135715921 135715921 single base substitution A C 3_prime_UTR_variant LIHC-US 6 135715921 135715921 single base substitution A C exon_variant LIHC-US 6 135715921 135715921 single base substitution A C synonymous_variant T100T 300T>G LIHC-US 6 135715921 135715921 single base substitution A C synonymous_variant T1034T 3102T>G LIHC-US 6 135715921 135715921 single base substitution A C synonymous_variant T388T 1164T>G LIHC-US 6 135715921 135715921 single base substitution A C synonymous_variant T533T 1599T>G LINC-JP 6 135607000 135607000 single base substitution C T intron_variant LINC-JP 6 135616559 135616559 single base substitution T C intron_variant LINC-JP 6 135629554 135629554 single base substitution T C intron_variant LINC-JP 6 135650075 135650075 single base substitution C A intron_variant LINC-JP 6 135661778 135661778 single base substitution C T intron_variant LINC-JP 6 135663262 135663262 single base substitution C A intron_variant LINC-JP 6 135664113 135664113 single base substitution G A intron_variant LINC-JP 6 135698294 135698294 single base substitution A G intron_variant LINC-JP 6 135699679 135699679 single base substitution T C intron_variant LINC-JP 6 135714252 135714252 single base substitution A C downstream_gene_variant LINC-JP 6 135714252 135714252 single base substitution A C intron_variant LINC-JP 6 135714923 135714923 single base substitution G A downstream_gene_variant LINC-JP 6 135714923 135714923 single base substitution G A intron_variant LINC-JP 6 135718654 135718654 single base substitution A G intron_variant LINC-JP 6 135733433 135733433 single base substitution T C intron_variant LINC-JP 6 135733433 135733433 single base substitution T C upstream_gene_variant LINC-JP 6 135733971 135733971 single base substitution A G intron_variant LINC-JP 6 135733971 135733971 single base substitution A G upstream_gene_variant LINC-JP 6 135744727 135744727 single base substitution T C intron_variant LINC-JP 6 135751132 135751132 single base substitution T A 3_prime_UTR_variant LINC-JP 6 135751132 135751132 single base substitution T A exon_variant LINC-JP 6 135751132 135751132 single base substitution T A stop_gained K148* 442A>T LINC-JP 6 135751132 135751132 single base substitution T A stop_gained K293* 877A>T LINC-JP 6 135751132 135751132 single base substitution T A stop_gained K794* 2380A>T LINC-JP 6 135753352 135753352 single base substitution C G intron_variant LINC-JP 6 135768249 135768249 single base substitution T C exon_variant LINC-JP 6 135768249 135768249 single base substitution T C missense_variant K559R 1676A>G LINC-JP 6 135768249 135768249 single base substitution T C missense_variant K58R 173A>G LINC-JP 6 135768249 135768249 single base substitution T C upstream_gene_variant LINC-JP 6 135773055 135773056 deletion of <=200bp TT - intron_variant LINC-JP 6 135773055 135773056 deletion of <=200bp TT - upstream_gene_variant LINC-JP 6 135774050 135774050 single base substitution C T intron_variant LINC-JP 6 135774050 135774050 single base substitution C T upstream_gene_variant LINC-JP 6 135774623 135774623 single base substitution C A intron_variant LINC-JP 6 135788808 135788808 single base substitution G A intron_variant LINC-JP 6 135788853 135788853 single base substitution T C intron_variant LINC-JP 6 135792241 135792241 single base substitution T C intron_variant LINC-JP 6 135794673 135794673 single base substitution T G intron_variant LINC-JP 6 135804729 135804729 single base substitution C T intron_variant LINC-JP 6 135818922 135818922 deletion of <=200bp C - upstream_gene_variant LIRI-JP 6 135600587 135600587 single base substitution G A downstream_gene_variant LIRI-JP 6 135608110 135608110 single base substitution T C intron_variant LIRI-JP 6 135617122 135617122 single base substitution C G intron_variant LIRI-JP 6 135619007 135619007 single base substitution G A downstream_gene_variant LIRI-JP 6 135619007 135619007 single base substitution G A intron_variant LIRI-JP 6 135619517 135619517 single base substitution T C downstream_gene_variant LIRI-JP 6 135619517 135619517 single base substitution T C intron_variant LIRI-JP 6 135620993 135620993 single base substitution T C downstream_gene_variant LIRI-JP 6 135620993 135620993 single base substitution T C intron_variant LIRI-JP 6 135630193 135630193 single base substitution T C intron_variant LIRI-JP 6 135631480 135631483 deletion of <=200bp TATT - intron_variant LIRI-JP 6 135633806 135633806 single base substitution T C intron_variant LIRI-JP 6 135636706 135636706 single base substitution T C downstream_gene_variant LIRI-JP 6 135636706 135636706 single base substitution T C intron_variant LIRI-JP 6 135639033 135639033 single base substitution T A downstream_gene_variant LIRI-JP 6 135639033 135639033 single base substitution T A intron_variant LIRI-JP 6 135639201 135639201 single base substitution C A downstream_gene_variant LIRI-JP 6 135639201 135639201 single base substitution C A intron_variant LIRI-JP 6 135639202 135639202 single base substitution C A downstream_gene_variant LIRI-JP 6 135639202 135639202 single base substitution C A intron_variant LIRI-JP 6 135640348 135640348 single base substitution C T intron_variant LIRI-JP 6 135640393 135640393 single base substitution C A intron_variant LIRI-JP 6 135642289 135642289 single base substitution T C intron_variant LIRI-JP 6 135645227 135645227 single base substitution G C intron_variant LIRI-JP 6 135645227 135645227 single base substitution G C upstream_gene_variant LIRI-JP 6 135647145 135647145 single base substitution C G intron_variant LIRI-JP 6 135647145 135647145 single base substitution C G upstream_gene_variant LIRI-JP 6 135647294 135647294 single base substitution T C intron_variant LIRI-JP 6 135647294 135647294 single base substitution T C upstream_gene_variant LIRI-JP 6 135649898 135649898 single base substitution G T intron_variant LIRI-JP 6 135650347 135650347 single base substitution A G intron_variant LIRI-JP 6 135653491 135653491 single base substitution C T intron_variant LIRI-JP 6 135653669 135653669 single base substitution C G intron_variant LIRI-JP 6 135654698 135654699 deletion of <=200bp CA - intron_variant LIRI-JP 6 135655002 135655002 single base substitution T C intron_variant LIRI-JP 6 135659212 135659212 single base substitution G A intron_variant LIRI-JP 6 135666530 135666530 single base substitution T C intron_variant LIRI-JP 6 135666989 135666989 single base substitution T C intron_variant LIRI-JP 6 135667540 135667540 single base substitution G T intron_variant LIRI-JP 6 135671039 135671039 single base substitution T C intron_variant LIRI-JP 6 135671359 135671359 single base substitution T C intron_variant LIRI-JP 6 135673766 135673766 single base substitution T C intron_variant LIRI-JP 6 135674134 135674134 single base substitution T C intron_variant LIRI-JP 6 135675859 135675859 single base substitution G A intron_variant LIRI-JP 6 135676369 135676369 single base substitution T C intron_variant LIRI-JP 6 135678143 135678143 single base substitution C A intron_variant LIRI-JP 6 135678202 135678202 single base substitution G A intron_variant LIRI-JP 6 135681932 135681935 deletion of <=200bp ATAG - intron_variant LIRI-JP 6 135682055 135682055 single base substitution C A intron_variant LIRI-JP 6 135686790 135686790 single base substitution A G intron_variant LIRI-JP 6 135687150 135687150 single base substitution A C intron_variant LIRI-JP 6 135689295 135689295 single base substitution T G intron_variant LIRI-JP 6 135690503 135690503 single base substitution G C intron_variant LIRI-JP 6 135692462 135692462 single base substitution A G intron_variant LIRI-JP 6 135693215 135693215 single base substitution G T intron_variant LIRI-JP 6 135699521 135699521 single base substitution T C intron_variant LIRI-JP 6 135702190 135702190 single base substitution T C intron_variant LIRI-JP 6 135702407 135702407 single base substitution C A intron_variant LIRI-JP 6 135703431 135703431 single base substitution T C intron_variant LIRI-JP 6 135706513 135706513 single base substitution T C downstream_gene_variant LIRI-JP 6 135706513 135706513 single base substitution T C intron_variant LIRI-JP 6 135709469 135709469 single base substitution T C intron_variant LIRI-JP 6 135709669 135709669 single base substitution T C intron_variant LIRI-JP 6 135711629 135711629 single base substitution T G downstream_gene_variant LIRI-JP 6 135711629 135711629 single base substitution T G intron_variant LIRI-JP 6 135712868 135712868 single base substitution A G downstream_gene_variant LIRI-JP 6 135712868 135712868 single base substitution A G intron_variant LIRI-JP 6 135716132 135716132 single base substitution C T intron_variant LIRI-JP 6 135716841 135716841 single base substitution T C intron_variant LIRI-JP 6 135717909 135717909 single base substitution T C intron_variant LIRI-JP 6 135719358 135719358 single base substitution C T intron_variant LIRI-JP 6 135725564 135725564 single base substitution C A intron_variant LIRI-JP 6 135725816 135725820 deletion of <=200bp ATGAC - intron_variant LIRI-JP 6 135727185 135727185 single base substitution T C intron_variant LIRI-JP 6 135729129 135729129 single base substitution T C intron_variant LIRI-JP 6 135730179 135730179 single base substitution T C intron_variant LIRI-JP 6 135732189 135732189 single base substitution T C intron_variant LIRI-JP 6 135733024 135733024 deletion of <=200bp C - intron_variant LIRI-JP 6 135733024 135733024 deletion of <=200bp C - upstream_gene_variant LIRI-JP 6 135733570 135733570 single base substitution A T intron_variant LIRI-JP 6 135733570 135733570 single base substitution A T upstream_gene_variant LIRI-JP 6 135737164 135737164 single base substitution T G intron_variant LIRI-JP 6 135737164 135737164 single base substitution T G upstream_gene_variant LIRI-JP 6 135738578 135738578 single base substitution T G intron_variant LIRI-JP 6 135739432 135739432 single base substitution G A intron_variant LIRI-JP 6 135741174 135741174 single base substitution G C intron_variant LIRI-JP 6 135741347 135741347 single base substitution C T intron_variant LIRI-JP 6 135746593 135746593 single base substitution G C intron_variant LIRI-JP 6 135748146 135748146 single base substitution T C intron_variant LIRI-JP 6 135750709 135750709 single base substitution T C intron_variant LIRI-JP 6 135750954 135750954 single base substitution T C intron_variant LIRI-JP 6 135751332 135751332 single base substitution T C intron_variant LIRI-JP 6 135751810 135751810 single base substitution A G intron_variant LIRI-JP 6 135751975 135751975 single base substitution T G intron_variant LIRI-JP 6 135752135 135752135 single base substitution C A intron_variant LIRI-JP 6 135752567 135752567 single base substitution T C intron_variant LIRI-JP 6 135759487 135759489 deletion of <=200bp CAT - intron_variant LIRI-JP 6 135761562 135761562 single base substitution T C intron_variant LIRI-JP 6 135762049 135762049 single base substitution T C intron_variant LIRI-JP 6 135763532 135763532 single base substitution C T intron_variant LIRI-JP 6 135763631 135763631 single base substitution C T intron_variant LIRI-JP 6 135769952 135769952 single base substitution A C intron_variant LIRI-JP 6 135769952 135769952 single base substitution A C upstream_gene_variant LIRI-JP 6 135773768 135773768 single base substitution T C intron_variant LIRI-JP 6 135773768 135773768 single base substitution T C upstream_gene_variant LIRI-JP 6 135777141 135777141 single base substitution T C intron_variant LIRI-JP 6 135778069 135778069 single base substitution A T intron_variant LIRI-JP 6 135778665 135778665 single base substitution T C exon_variant LIRI-JP 6 135778665 135778665 single base substitution T C missense_variant E373G 1118A>G LIRI-JP 6 135781729 135781729 single base substitution C A downstream_gene_variant LIRI-JP 6 135781729 135781729 single base substitution C A intron_variant LIRI-JP 6 135784970 135784970 single base substitution G A intron_variant LIRI-JP 6 135785130 135785130 single base substitution G A intron_variant LIRI-JP 6 135786502 135786502 single base substitution C A intron_variant LIRI-JP 6 135786538 135786538 single base substitution T A intron_variant LIRI-JP 6 135786908 135786908 single base substitution T C intron_variant LIRI-JP 6 135788221 135788221 single base substitution C T intron_variant LIRI-JP 6 135797094 135797094 single base substitution A C intron_variant LIRI-JP 6 135798469 135798469 single base substitution T C intron_variant LIRI-JP 6 135805068 135805068 insertion of <=200bp - AGTGT intron_variant LIRI-JP 6 135805847 135805847 single base substitution A G intron_variant LIRI-JP 6 135807208 135807208 single base substitution C A downstream_gene_variant LIRI-JP 6 135807208 135807208 single base substitution C A intron_variant LIRI-JP 6 135809275 135809275 single base substitution T C downstream_gene_variant LIRI-JP 6 135809275 135809275 single base substitution T C intron_variant LIRI-JP 6 135813493 135813493 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 6 135813493 135813493 single base substitution T A intron_variant LIRI-JP 6 135814086 135814086 insertion of <=200bp - A intron_variant LIRI-JP 6 135814086 135814086 insertion of <=200bp - A upstream_gene_variant LIRI-JP 6 135817074 135817074 single base substitution T C intron_variant LIRI-JP 6 135817074 135817074 single base substitution T C upstream_gene_variant LIRI-JP 6 135818560 135818560 single base substitution G A intron_variant LIRI-JP 6 135818560 135818560 single base substitution G A upstream_gene_variant LIRI-JP 6 135819805 135819805 single base substitution C G upstream_gene_variant LIRI-JP 6 135822157 135822157 single base substitution G A upstream_gene_variant LUSC-KR 6 135601741 135601741 single base substitution T A downstream_gene_variant LUSC-KR 6 135603245 135603245 single base substitution G A downstream_gene_variant LUSC-KR 6 135609648 135609648 single base substitution G T intron_variant LUSC-KR 6 135609927 135609927 single base substitution C T intron_variant LUSC-KR 6 135611496 135611496 single base substitution C A intron_variant LUSC-KR 6 135614563 135614563 single base substitution G A intron_variant LUSC-KR 6 135625746 135625746 single base substitution T A intron_variant LUSC-KR 6 135625746 135625746 single base substitution T A upstream_gene_variant LUSC-KR 6 135626319 135626319 single base substitution C T intron_variant LUSC-KR 6 135626319 135626319 single base substitution C T upstream_gene_variant LUSC-KR 6 135641592 135641592 single base substitution A T intron_variant LUSC-KR 6 135643790 135643790 single base substitution C T intron_variant LUSC-KR 6 135643792 135643792 single base substitution T A intron_variant LUSC-KR 6 135649752 135649752 single base substitution T G intron_variant LUSC-KR 6 135653579 135653579 single base substitution T C intron_variant LUSC-KR 6 135654161 135654161 single base substitution C A intron_variant LUSC-KR 6 135655628 135655628 single base substitution C A intron_variant LUSC-KR 6 135657112 135657112 single base substitution G A intron_variant LUSC-KR 6 135657454 135657454 single base substitution G T intron_variant LUSC-KR 6 135662400 135662400 single base substitution C G intron_variant LUSC-KR 6 135666243 135666243 single base substitution C T intron_variant LUSC-KR 6 135668452 135668452 single base substitution T C intron_variant LUSC-KR 6 135673260 135673260 single base substitution C T intron_variant LUSC-KR 6 135673841 135673841 single base substitution A G intron_variant LUSC-KR 6 135677905 135677905 single base substitution C G intron_variant LUSC-KR 6 135680187 135680187 single base substitution A G intron_variant LUSC-KR 6 135682850 135682850 single base substitution C A intron_variant LUSC-KR 6 135683414 135683414 single base substitution T C intron_variant LUSC-KR 6 135684440 135684440 single base substitution C T intron_variant LUSC-KR 6 135684643 135684643 single base substitution C T intron_variant LUSC-KR 6 135684653 135684653 single base substitution C G intron_variant LUSC-KR 6 135684817 135684817 single base substitution T C intron_variant LUSC-KR 6 135684879 135684879 single base substitution G A intron_variant LUSC-KR 6 135684888 135684888 single base substitution A G intron_variant LUSC-KR 6 135685468 135685468 single base substitution T G intron_variant LUSC-KR 6 135685489 135685489 single base substitution G A intron_variant LUSC-KR 6 135692653 135692653 single base substitution G C intron_variant LUSC-KR 6 135697154 135697154 single base substitution C G intron_variant LUSC-KR 6 135704992 135704992 single base substitution C T downstream_gene_variant LUSC-KR 6 135704992 135704992 single base substitution C T intron_variant LUSC-KR 6 135708254 135708254 single base substitution C A downstream_gene_variant LUSC-KR 6 135708254 135708254 single base substitution C A intron_variant LUSC-KR 6 135708300 135708300 single base substitution C A downstream_gene_variant LUSC-KR 6 135708300 135708300 single base substitution C A intron_variant LUSC-KR 6 135721591 135721591 single base substitution T A intron_variant LUSC-KR 6 135722641 135722641 single base substitution T C intron_variant LUSC-KR 6 135728162 135728162 single base substitution G A intron_variant LUSC-KR 6 135729002 135729002 single base substitution C A intron_variant LUSC-KR 6 135740448 135740448 single base substitution C G intron_variant LUSC-KR 6 135748207 135748207 single base substitution G T intron_variant LUSC-KR 6 135765001 135765001 single base substitution G A intron_variant LUSC-KR 6 135765001 135765001 single base substitution G A upstream_gene_variant LUSC-KR 6 135768391 135768391 single base substitution T C intron_variant LUSC-KR 6 135768391 135768391 single base substitution T C upstream_gene_variant LUSC-KR 6 135773877 135773877 single base substitution C A intron_variant LUSC-KR 6 135773877 135773877 single base substitution C A upstream_gene_variant LUSC-KR 6 135780211 135780211 single base substitution C A downstream_gene_variant LUSC-KR 6 135780211 135780211 single base substitution C A intron_variant LUSC-KR 6 135790342 135790342 single base substitution C T intron_variant LUSC-KR 6 135798055 135798055 single base substitution A T intron_variant LUSC-KR 6 135798333 135798333 single base substitution C A intron_variant LUSC-KR 6 135802523 135802523 single base substitution C G intron_variant LUSC-KR 6 135802586 135802586 single base substitution T C intron_variant LUSC-KR 6 135812025 135812025 single base substitution C G downstream_gene_variant LUSC-KR 6 135812025 135812025 single base substitution C G intron_variant LUSC-KR 6 135814285 135814285 single base substitution C T intron_variant LUSC-KR 6 135814285 135814285 single base substitution C T upstream_gene_variant LUSC-KR 6 135821810 135821810 single base substitution C T upstream_gene_variant LUSC-KR 6 135823378 135823378 single base substitution A G upstream_gene_variant LUSC-US 6 135611618 135611618 single base substitution T C 3_prime_UTR_variant LUSC-US 6 135611618 135611618 single base substitution T C exon_variant LUSC-US 6 135611618 135611618 single base substitution T C intron_variant LUSC-US 6 135611618 135611618 single base substitution T C missense_variant I1177M 3531A>G LUSC-US 6 135759594 135759594 deletion of <=200bp C - 3_prime_UTR_variant LUSC-US 6 135759594 135759594 deletion of <=200bp C - exon_variant LUSC-US 6 135759594 135759594 deletion of <=200bp C - frameshift_variant G151 LUSC-US 6 135759594 135759594 deletion of <=200bp C - frameshift_variant G6 LUSC-US 6 135759594 135759594 deletion of <=200bp C - frameshift_variant G652 LUSC-US 6 135769471 135769471 single base substitution G A exon_variant LUSC-US 6 135769471 135769471 single base substitution G A missense_variant S27L 80C>T LUSC-US 6 135769471 135769471 single base substitution G A missense_variant S528L 1583C>T LUSC-US 6 135769594 135769594 single base substitution T C exon_variant LUSC-US 6 135769594 135769594 single base substitution T C missense_variant N487S 1460A>G LUSC-US 6 135769594 135769594 single base substitution T C upstream_gene_variant LUSC-US 6 135784438 135784438 single base substitution C T exon_variant LUSC-US 6 135784438 135784438 single base substitution C T synonymous_variant L234L 702G>A LUSC-US 6 135784438 135784438 single base substitution C T synonymous_variant L252L 756G>A LUSC-US 6 135811852 135811852 single base substitution C G downstream_gene_variant LUSC-US 6 135811852 135811852 single base substitution C G exon_variant LUSC-US 6 135811852 135811852 single base substitution C G missense_variant R15P 44G>C MALY-DE 6 135609992 135609992 single base substitution A C intron_variant MALY-DE 6 135613248 135613249 deletion of <=200bp AC - intron_variant MALY-DE 6 135614026 135614026 single base substitution C T intron_variant MALY-DE 6 135615680 135615680 single base substitution A C intron_variant MALY-DE 6 135636096 135636096 single base substitution T C downstream_gene_variant MALY-DE 6 135636096 135636096 single base substitution T C intron_variant MALY-DE 6 135637074 135637074 single base substitution G A downstream_gene_variant MALY-DE 6 135637074 135637074 single base substitution G A intron_variant MALY-DE 6 135638053 135638053 single base substitution G A downstream_gene_variant MALY-DE 6 135638053 135638053 single base substitution G A intron_variant MALY-DE 6 135643820 135643820 single base substitution T C intron_variant MALY-DE 6 135643982 135643984 deletion of <=200bp GAG - intron_variant MALY-DE 6 135647554 135647556 deletion of <=200bp TTC - intron_variant MALY-DE 6 135647554 135647556 deletion of <=200bp TTC - upstream_gene_variant MALY-DE 6 135651785 135651785 single base substitution C T intron_variant MALY-DE 6 135658085 135658085 single base substitution T C intron_variant MALY-DE 6 135661662 135661662 single base substitution C A intron_variant MALY-DE 6 135668991 135668991 single base substitution G A intron_variant MALY-DE 6 135669676 135669676 single base substitution C G intron_variant MALY-DE 6 135711153 135711153 single base substitution T A downstream_gene_variant MALY-DE 6 135711153 135711153 single base substitution T A intron_variant MALY-DE 6 135717279 135717279 single base substitution A G intron_variant MALY-DE 6 135719406 135719406 single base substitution T C intron_variant MALY-DE 6 135731725 135731725 single base substitution C A intron_variant MALY-DE 6 135754055 135754055 single base substitution C T intron_variant MALY-DE 6 135760297 135760297 insertion of <=200bp - G intron_variant MALY-DE 6 135763547 135763547 single base substitution T G intron_variant MALY-DE 6 135766203 135766203 single base substitution T G intron_variant MALY-DE 6 135766203 135766203 single base substitution T G upstream_gene_variant MALY-DE 6 135776227 135776227 single base substitution C A intron_variant MALY-DE 6 135780756 135780756 single base substitution A G downstream_gene_variant MALY-DE 6 135780756 135780756 single base substitution A G intron_variant MALY-DE 6 135780828 135780828 single base substitution A C downstream_gene_variant MALY-DE 6 135780828 135780828 single base substitution A C intron_variant MALY-DE 6 135780898 135780898 single base substitution A G downstream_gene_variant MALY-DE 6 135780898 135780898 single base substitution A G intron_variant MALY-DE 6 135780930 135780930 single base substitution A T downstream_gene_variant MALY-DE 6 135780930 135780930 single base substitution A T intron_variant MALY-DE 6 135798799 135798800 deletion of <=200bp CT - intron_variant MALY-DE 6 135814282 135814282 single base substitution G C intron_variant MALY-DE 6 135814282 135814282 single base substitution G C upstream_gene_variant MALY-DE 6 135818353 135818353 single base substitution T G 5_prime_UTR_variant MALY-DE 6 135818353 135818353 single base substitution T G exon_variant MALY-DE 6 135818353 135818353 single base substitution T G intron_variant MALY-DE 6 135818353 135818353 single base substitution T G upstream_gene_variant MALY-DE 6 135819160 135819160 single base substitution G A upstream_gene_variant MALY-DE 6 135819414 135819414 single base substitution T G upstream_gene_variant MALY-DE 6 135820162 135820162 single base substitution C T upstream_gene_variant MALY-DE 6 135823434 135823434 single base substitution G A upstream_gene_variant MELA-AU 6 135601105 135601105 single base substitution G A downstream_gene_variant MELA-AU 6 135601284 135601284 single base substitution C T downstream_gene_variant MELA-AU 6 135601309 135601309 single base substitution C T downstream_gene_variant MELA-AU 6 135601453 135601453 single base substitution G A downstream_gene_variant MELA-AU 6 135601634 135601634 single base substitution G A downstream_gene_variant MELA-AU 6 135601761 135601761 single base substitution G A downstream_gene_variant MELA-AU 6 135603238 135603238 single base substitution G A downstream_gene_variant MELA-AU 6 135603251 135603251 single base substitution G A downstream_gene_variant MELA-AU 6 135603437 135603437 single base substitution C T downstream_gene_variant MELA-AU 6 135603652 135603652 single base substitution G A downstream_gene_variant MELA-AU 6 135603742 135603742 single base substitution C T downstream_gene_variant MELA-AU 6 135604775 135604775 single base substitution G A 3_prime_UTR_variant MELA-AU 6 135604775 135604775 single base substitution G A downstream_gene_variant MELA-AU 6 135605216 135605216 single base substitution G A 3_prime_UTR_variant MELA-AU 6 135605216 135605216 single base substitution G A downstream_gene_variant MELA-AU 6 135605850 135605850 single base substitution G A 3_prime_UTR_variant MELA-AU 6 135605850 135605850 single base substitution G A downstream_gene_variant MELA-AU 6 135606660 135606660 single base substitution G A 3_prime_UTR_variant MELA-AU 6 135606660 135606660 single base substitution G A exon_variant MELA-AU 6 135606910 135606910 single base substitution A T intron_variant MELA-AU 6 135606980 135606980 single base substitution G A intron_variant MELA-AU 6 135607134 135607134 single base substitution G A intron_variant MELA-AU 6 135607995 135607995 single base substitution G A intron_variant MELA-AU 6 135608191 135608191 single base substitution G A intron_variant MELA-AU 6 135608408 135608408 single base substitution G T intron_variant MELA-AU 6 135608696 135608696 single base substitution G A intron_variant MELA-AU 6 135609232 135609232 single base substitution C T intron_variant MELA-AU 6 135610230 135610230 single base substitution C T intron_variant MELA-AU 6 135611161 135611161 single base substitution G A intron_variant MELA-AU 6 135612051 135612051 single base substitution A C intron_variant MELA-AU 6 135613964 135613964 single base substitution G A intron_variant MELA-AU 6 135614376 135614376 single base substitution G A intron_variant MELA-AU 6 135615372 135615372 single base substitution G A intron_variant MELA-AU 6 135616598 135616598 single base substitution G A intron_variant MELA-AU 6 135616872 135616872 single base substitution G A intron_variant MELA-AU 6 135616965 135616965 single base substitution G A intron_variant MELA-AU 6 135617329 135617329 single base substitution T C intron_variant MELA-AU 6 135617808 135617808 single base substitution T C intron_variant MELA-AU 6 135619115 135619115 single base substitution G A downstream_gene_variant MELA-AU 6 135619115 135619115 single base substitution G A intron_variant MELA-AU 6 135619662 135619662 single base substitution C T downstream_gene_variant MELA-AU 6 135619662 135619662 single base substitution C T intron_variant MELA-AU 6 135619913 135619913 single base substitution G A downstream_gene_variant MELA-AU 6 135619913 135619913 single base substitution G A intron_variant MELA-AU 6 135620418 135620418 single base substitution G A downstream_gene_variant MELA-AU 6 135620418 135620418 single base substitution G A intron_variant MELA-AU 6 135621581 135621581 single base substitution C T downstream_gene_variant MELA-AU 6 135621581 135621581 single base substitution C T intron_variant MELA-AU 6 135622355 135622355 single base substitution G A downstream_gene_variant MELA-AU 6 135622355 135622355 single base substitution G A intron_variant MELA-AU 6 135622355 135622355 single base substitution G A upstream_gene_variant MELA-AU 6 135622452 135622452 single base substitution T A downstream_gene_variant MELA-AU 6 135622452 135622452 single base substitution T A intron_variant MELA-AU 6 135622452 135622452 single base substitution T A upstream_gene_variant MELA-AU 6 135623313 135623313 single base substitution G A downstream_gene_variant MELA-AU 6 135623313 135623313 single base substitution G A intron_variant MELA-AU 6 135623313 135623313 single base substitution G A upstream_gene_variant MELA-AU 6 135623938 135623938 single base substitution T C 3_prime_UTR_variant MELA-AU 6 135623938 135623938 single base substitution T C exon_variant MELA-AU 6 135623938 135623938 single base substitution T C intron_variant MELA-AU 6 135623938 135623938 single base substitution T C upstream_gene_variant MELA-AU 6 135623964 135623964 single base substitution G A intron_variant MELA-AU 6 135623964 135623964 single base substitution G A upstream_gene_variant MELA-AU 6 135624123 135624123 single base substitution G A intron_variant MELA-AU 6 135624123 135624123 single base substitution G A upstream_gene_variant MELA-AU 6 135624135 135624135 single base substitution G A intron_variant MELA-AU 6 135624135 135624135 single base substitution G A upstream_gene_variant MELA-AU 6 135624351 135624351 single base substitution G A intron_variant MELA-AU 6 135624351 135624351 single base substitution G A upstream_gene_variant MELA-AU 6 135624600 135624600 single base substitution G A intron_variant MELA-AU 6 135624600 135624600 single base substitution G A upstream_gene_variant MELA-AU 6 135625448 135625448 single base substitution C T intron_variant MELA-AU 6 135625448 135625448 single base substitution C T upstream_gene_variant MELA-AU 6 135625566 135625566 single base substitution G A intron_variant MELA-AU 6 135625566 135625566 single base substitution G A upstream_gene_variant MELA-AU 6 135626200 135626200 single base substitution G T intron_variant MELA-AU 6 135626200 135626200 single base substitution G T upstream_gene_variant MELA-AU 6 135627226 135627227 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 135627320 135627320 single base substitution G A intron_variant MELA-AU 6 135628143 135628143 single base substitution G A intron_variant MELA-AU 6 135628483 135628483 single base substitution G A intron_variant MELA-AU 6 135629318 135629318 single base substitution C T intron_variant MELA-AU 6 135629588 135629588 single base substitution G A intron_variant MELA-AU 6 135629903 135629903 single base substitution C T intron_variant MELA-AU 6 135630414 135630415 multiple base substitution (>=2bp and <=200bp) GG TT intron_variant MELA-AU 6 135630498 135630498 single base substitution A G intron_variant MELA-AU 6 135630588 135630588 single base substitution G A intron_variant MELA-AU 6 135630644 135630644 single base substitution G A intron_variant MELA-AU 6 135630947 135630947 single base substitution G A intron_variant MELA-AU 6 135632040 135632040 single base substitution G A intron_variant MELA-AU 6 135632423 135632423 single base substitution G A intron_variant MELA-AU 6 135632424 135632424 single base substitution G A intron_variant MELA-AU 6 135632930 135632930 single base substitution C T intron_variant MELA-AU 6 135632963 135632963 single base substitution G A intron_variant MELA-AU 6 135633737 135633737 single base substitution G A intron_variant MELA-AU 6 135633782 135633782 single base substitution G A intron_variant MELA-AU 6 135633885 135633885 single base substitution G A intron_variant MELA-AU 6 135634560 135634560 single base substitution G A intron_variant MELA-AU 6 135634849 135634849 single base substitution G A downstream_gene_variant MELA-AU 6 135634849 135634849 single base substitution G A intron_variant MELA-AU 6 135634870 135634870 single base substitution G A downstream_gene_variant MELA-AU 6 135634870 135634870 single base substitution G A intron_variant MELA-AU 6 135635924 135635924 single base substitution G A downstream_gene_variant MELA-AU 6 135635924 135635924 single base substitution G A intron_variant MELA-AU 6 135636450 135636450 single base substitution G A downstream_gene_variant MELA-AU 6 135636450 135636450 single base substitution G A intron_variant MELA-AU 6 135636544 135636544 single base substitution C T downstream_gene_variant MELA-AU 6 135636544 135636544 single base substitution C T intron_variant MELA-AU 6 135636552 135636552 single base substitution G A downstream_gene_variant MELA-AU 6 135636552 135636552 single base substitution G A intron_variant MELA-AU 6 135638829 135638829 single base substitution G A downstream_gene_variant MELA-AU 6 135638829 135638829 single base substitution G A intron_variant MELA-AU 6 135638982 135638982 single base substitution G T downstream_gene_variant MELA-AU 6 135638982 135638982 single base substitution G T intron_variant MELA-AU 6 135639673 135639673 single base substitution G A 3_prime_UTR_variant MELA-AU 6 135639673 135639673 single base substitution G A exon_variant MELA-AU 6 135639673 135639673 single base substitution G A missense_variant S1137F 3410C>T MELA-AU 6 135639673 135639673 single base substitution G A missense_variant S491F 1472C>T MELA-AU 6 135639673 135639673 single base substitution G A missense_variant S636F 1907C>T MELA-AU 6 135639733 135639733 single base substitution G A 3_prime_UTR_variant MELA-AU 6 135639733 135639733 single base substitution G A exon_variant MELA-AU 6 135639733 135639733 single base substitution G A missense_variant P1117L 3350C>T MELA-AU 6 135639733 135639733 single base substitution G A missense_variant P471L 1412C>T MELA-AU 6 135639733 135639733 single base substitution G A missense_variant P616L 1847C>T MELA-AU 6 135640534 135640534 single base substitution A G intron_variant MELA-AU 6 135640622 135640622 single base substitution G A intron_variant MELA-AU 6 135640735 135640735 single base substitution A G intron_variant MELA-AU 6 135640747 135640747 single base substitution G A intron_variant MELA-AU 6 135641188 135641188 single base substitution T G intron_variant MELA-AU 6 135641777 135641777 single base substitution G C intron_variant MELA-AU 6 135642311 135642311 single base substitution G A intron_variant MELA-AU 6 135642668 135642668 single base substitution G A intron_variant MELA-AU 6 135643003 135643003 single base substitution G A intron_variant MELA-AU 6 135643164 135643164 single base substitution C T intron_variant MELA-AU 6 135644632 135644632 single base substitution G A intron_variant MELA-AU 6 135644632 135644632 single base substitution G A upstream_gene_variant MELA-AU 6 135644875 135644875 single base substitution G A intron_variant MELA-AU 6 135644875 135644875 single base substitution G A upstream_gene_variant MELA-AU 6 135645051 135645051 single base substitution G A intron_variant MELA-AU 6 135645051 135645051 single base substitution G A upstream_gene_variant MELA-AU 6 135645250 135645250 single base substitution G A intron_variant MELA-AU 6 135645250 135645250 single base substitution G A upstream_gene_variant MELA-AU 6 135645393 135645393 single base substitution G A intron_variant MELA-AU 6 135645393 135645393 single base substitution G A upstream_gene_variant MELA-AU 6 135645492 135645492 single base substitution C T intron_variant MELA-AU 6 135645492 135645492 single base substitution C T upstream_gene_variant MELA-AU 6 135645916 135645916 single base substitution G A intron_variant MELA-AU 6 135645916 135645916 single base substitution G A upstream_gene_variant MELA-AU 6 135647594 135647594 single base substitution C T intron_variant MELA-AU 6 135647594 135647594 single base substitution C T upstream_gene_variant MELA-AU 6 135648764 135648764 single base substitution G A intron_variant MELA-AU 6 135648764 135648764 single base substitution G A upstream_gene_variant MELA-AU 6 135648840 135648840 single base substitution G A intron_variant MELA-AU 6 135648840 135648840 single base substitution G A upstream_gene_variant MELA-AU 6 135648871 135648871 single base substitution C T intron_variant MELA-AU 6 135648871 135648871 single base substitution C T upstream_gene_variant MELA-AU 6 135648886 135648886 single base substitution C T intron_variant MELA-AU 6 135648886 135648886 single base substitution C T upstream_gene_variant MELA-AU 6 135649832 135649832 single base substitution G A intron_variant MELA-AU 6 135650350 135650350 single base substitution G A intron_variant MELA-AU 6 135650913 135650913 single base substitution G A intron_variant MELA-AU 6 135651794 135651794 single base substitution G C intron_variant MELA-AU 6 135651841 135651841 single base substitution C T intron_variant MELA-AU 6 135651885 135651885 single base substitution G A intron_variant MELA-AU 6 135652667 135652667 single base substitution G A intron_variant MELA-AU 6 135653013 135653013 single base substitution G A intron_variant MELA-AU 6 135653022 135653022 single base substitution G A intron_variant MELA-AU 6 135653925 135653925 single base substitution A T intron_variant MELA-AU 6 135654192 135654193 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 135654203 135654203 single base substitution G A intron_variant MELA-AU 6 135654297 135654297 single base substitution G A intron_variant MELA-AU 6 135654358 135654358 single base substitution G A intron_variant MELA-AU 6 135654721 135654721 single base substitution C T intron_variant MELA-AU 6 135655057 135655057 single base substitution T A intron_variant MELA-AU 6 135656054 135656054 single base substitution G A intron_variant MELA-AU 6 135657239 135657239 single base substitution G A intron_variant MELA-AU 6 135657863 135657863 single base substitution T C intron_variant MELA-AU 6 135659121 135659121 single base substitution G A intron_variant MELA-AU 6 135659642 135659642 single base substitution G A intron_variant MELA-AU 6 135659770 135659770 single base substitution G A intron_variant MELA-AU 6 135660563 135660563 single base substitution G A intron_variant MELA-AU 6 135660888 135660888 single base substitution G A intron_variant MELA-AU 6 135661222 135661222 single base substitution G A intron_variant MELA-AU 6 135661436 135661437 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 135661481 135661481 single base substitution C T intron_variant MELA-AU 6 135661517 135661517 single base substitution A G intron_variant MELA-AU 6 135661635 135661635 single base substitution G A intron_variant MELA-AU 6 135661969 135661969 single base substitution G A intron_variant MELA-AU 6 135662427 135662427 single base substitution G A intron_variant MELA-AU 6 135662873 135662873 single base substitution A T intron_variant MELA-AU 6 135662918 135662918 single base substitution G A intron_variant MELA-AU 6 135663131 135663131 single base substitution G T intron_variant MELA-AU 6 135663872 135663872 single base substitution G A intron_variant MELA-AU 6 135665084 135665084 single base substitution G A intron_variant MELA-AU 6 135665628 135665628 single base substitution G A intron_variant MELA-AU 6 135665673 135665673 single base substitution G A intron_variant MELA-AU 6 135666110 135666110 single base substitution C T intron_variant MELA-AU 6 135666610 135666610 single base substitution G A intron_variant MELA-AU 6 135666827 135666827 single base substitution G A intron_variant MELA-AU 6 135666828 135666828 single base substitution G A intron_variant MELA-AU 6 135667007 135667007 single base substitution G A intron_variant MELA-AU 6 135667426 135667426 single base substitution G A intron_variant MELA-AU 6 135667559 135667559 single base substitution C T intron_variant MELA-AU 6 135667713 135667713 single base substitution C T intron_variant MELA-AU 6 135668264 135668264 single base substitution G A intron_variant MELA-AU 6 135668281 135668281 single base substitution G A intron_variant MELA-AU 6 135669065 135669065 single base substitution G A intron_variant MELA-AU 6 135669113 135669113 single base substitution G A intron_variant MELA-AU 6 135669419 135669419 single base substitution G A intron_variant MELA-AU 6 135670082 135670082 single base substitution G A intron_variant MELA-AU 6 135670435 135670435 single base substitution G A intron_variant MELA-AU 6 135670785 135670785 single base substitution G A intron_variant MELA-AU 6 135672161 135672161 single base substitution G A intron_variant MELA-AU 6 135672363 135672363 single base substitution A C intron_variant MELA-AU 6 135672662 135672662 single base substitution C A intron_variant MELA-AU 6 135673200 135673200 single base substitution G A intron_variant MELA-AU 6 135673208 135673208 single base substitution C T intron_variant MELA-AU 6 135673774 135673774 single base substitution G A intron_variant MELA-AU 6 135674111 135674111 single base substitution C T intron_variant MELA-AU 6 135674586 135674586 single base substitution G A intron_variant MELA-AU 6 135675144 135675144 single base substitution G A intron_variant MELA-AU 6 135675186 135675186 single base substitution T G intron_variant MELA-AU 6 135675975 135675975 single base substitution G A intron_variant MELA-AU 6 135676747 135676747 single base substitution G A intron_variant MELA-AU 6 135677237 135677237 single base substitution G A intron_variant MELA-AU 6 135677702 135677703 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 135677987 135677987 single base substitution T A intron_variant MELA-AU 6 135678984 135678984 single base substitution G A intron_variant MELA-AU 6 135679278 135679278 single base substitution C T 3_prime_UTR_variant MELA-AU 6 135679278 135679278 single base substitution C T exon_variant MELA-AU 6 135679278 135679278 single base substitution C T missense_variant A1053T 3157G>A MELA-AU 6 135679278 135679278 single base substitution C T missense_variant A407T 1219G>A MELA-AU 6 135679278 135679278 single base substitution C T missense_variant A552T 1654G>A MELA-AU 6 135681077 135681077 single base substitution G A intron_variant MELA-AU 6 135681576 135681576 single base substitution G A intron_variant MELA-AU 6 135681949 135681949 single base substitution A G intron_variant MELA-AU 6 135681969 135681969 single base substitution G A intron_variant MELA-AU 6 135682229 135682229 single base substitution G A intron_variant MELA-AU 6 135683932 135683932 single base substitution G A intron_variant MELA-AU 6 135685009 135685009 single base substitution G A intron_variant MELA-AU 6 135685217 135685217 single base substitution C T intron_variant MELA-AU 6 135685234 135685234 single base substitution G A intron_variant MELA-AU 6 135685294 135685294 single base substitution G A intron_variant MELA-AU 6 135685876 135685876 single base substitution G A intron_variant MELA-AU 6 135685944 135685944 single base substitution C T intron_variant MELA-AU 6 135686011 135686011 single base substitution G A intron_variant MELA-AU 6 135686029 135686029 single base substitution G A intron_variant MELA-AU 6 135686058 135686058 single base substitution G A intron_variant MELA-AU 6 135686095 135686095 single base substitution G A intron_variant MELA-AU 6 135687030 135687030 single base substitution C T intron_variant MELA-AU 6 135687107 135687107 single base substitution C T intron_variant MELA-AU 6 135687444 135687444 single base substitution G A intron_variant MELA-AU 6 135687478 135687479 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 135688220 135688220 single base substitution G A intron_variant MELA-AU 6 135688348 135688348 single base substitution G A intron_variant MELA-AU 6 135688372 135688372 single base substitution T C intron_variant MELA-AU 6 135689034 135689034 single base substitution G A intron_variant MELA-AU 6 135689050 135689050 single base substitution G A intron_variant MELA-AU 6 135689176 135689176 single base substitution G A intron_variant MELA-AU 6 135689207 135689207 single base substitution C T intron_variant MELA-AU 6 135689322 135689322 single base substitution G A intron_variant MELA-AU 6 135689903 135689904 multiple base substitution (>=2bp and <=200bp) GT TA intron_variant MELA-AU 6 135690621 135690621 single base substitution G A intron_variant MELA-AU 6 135690876 135690876 single base substitution C T intron_variant MELA-AU 6 135691370 135691370 single base substitution G A intron_variant MELA-AU 6 135691768 135691768 single base substitution T C intron_variant MELA-AU 6 135692250 135692250 single base substitution G A intron_variant MELA-AU 6 135692553 135692553 single base substitution C T intron_variant MELA-AU 6 135692613 135692613 single base substitution G A intron_variant MELA-AU 6 135693177 135693177 single base substitution G A intron_variant MELA-AU 6 135693483 135693483 single base substitution T A intron_variant MELA-AU 6 135693533 135693533 single base substitution G A intron_variant MELA-AU 6 135693626 135693626 single base substitution G A intron_variant MELA-AU 6 135694032 135694032 single base substitution G A intron_variant MELA-AU 6 135694557 135694557 single base substitution G A intron_variant MELA-AU 6 135694829 135694829 single base substitution G A intron_variant MELA-AU 6 135694858 135694858 single base substitution G A intron_variant MELA-AU 6 135695614 135695614 single base substitution G A intron_variant MELA-AU 6 135696553 135696553 single base substitution G A intron_variant MELA-AU 6 135696663 135696663 single base substitution G A intron_variant MELA-AU 6 135696743 135696743 single base substitution G A intron_variant MELA-AU 6 135697100 135697100 single base substitution A C intron_variant MELA-AU 6 135697156 135697156 single base substitution A C intron_variant MELA-AU 6 135697239 135697239 single base substitution G A intron_variant MELA-AU 6 135697804 135697804 single base substitution G A intron_variant MELA-AU 6 135697997 135697997 single base substitution G A intron_variant MELA-AU 6 135698601 135698604 deletion of <=200bp TTAT - intron_variant MELA-AU 6 135699227 135699227 single base substitution G A intron_variant MELA-AU 6 135700379 135700379 single base substitution A C intron_variant MELA-AU 6 135702326 135702326 single base substitution G A intron_variant MELA-AU 6 135702617 135702617 single base substitution G A intron_variant MELA-AU 6 135702664 135702664 single base substitution G A intron_variant MELA-AU 6 135702701 135702701 single base substitution G A intron_variant MELA-AU 6 135702729 135702729 single base substitution C T intron_variant MELA-AU 6 135702750 135702750 single base substitution G A intron_variant MELA-AU 6 135703161 135703161 single base substitution G A intron_variant MELA-AU 6 135703465 135703465 single base substitution G A intron_variant MELA-AU 6 135703768 135703769 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 135704682 135704682 single base substitution C T downstream_gene_variant MELA-AU 6 135704682 135704682 single base substitution C T intron_variant MELA-AU 6 135705050 135705050 single base substitution G A downstream_gene_variant MELA-AU 6 135705050 135705050 single base substitution G A intron_variant MELA-AU 6 135705235 135705235 single base substitution G A downstream_gene_variant MELA-AU 6 135705235 135705235 single base substitution G A intron_variant MELA-AU 6 135705666 135705666 single base substitution G A downstream_gene_variant MELA-AU 6 135705666 135705666 single base substitution G A intron_variant MELA-AU 6 135706676 135706676 single base substitution G A downstream_gene_variant MELA-AU 6 135706676 135706676 single base substitution G A intron_variant MELA-AU 6 135708047 135708047 single base substitution G A downstream_gene_variant MELA-AU 6 135708047 135708047 single base substitution G A intron_variant MELA-AU 6 135708343 135708343 single base substitution G A downstream_gene_variant MELA-AU 6 135708343 135708343 single base substitution G A intron_variant MELA-AU 6 135708405 135708405 single base substitution G A downstream_gene_variant MELA-AU 6 135708405 135708405 single base substitution G A intron_variant MELA-AU 6 135708440 135708440 single base substitution G A downstream_gene_variant MELA-AU 6 135708440 135708440 single base substitution G A intron_variant MELA-AU 6 135708804 135708804 single base substitution C T downstream_gene_variant MELA-AU 6 135708804 135708804 single base substitution C T intron_variant MELA-AU 6 135709496 135709496 single base substitution G A intron_variant MELA-AU 6 135709570 135709570 single base substitution C T intron_variant MELA-AU 6 135710448 135710448 single base substitution A T intron_variant MELA-AU 6 135711307 135711307 single base substitution G A downstream_gene_variant MELA-AU 6 135711307 135711307 single base substitution G A intron_variant MELA-AU 6 135711481 135711481 single base substitution G A downstream_gene_variant MELA-AU 6 135711481 135711481 single base substitution G A intron_variant MELA-AU 6 135711650 135711650 single base substitution G A downstream_gene_variant MELA-AU 6 135711650 135711650 single base substitution G A intron_variant MELA-AU 6 135711957 135711957 single base substitution G A downstream_gene_variant MELA-AU 6 135711957 135711957 single base substitution G A intron_variant MELA-AU 6 135712156 135712156 single base substitution C A downstream_gene_variant MELA-AU 6 135712156 135712156 single base substitution C A intron_variant MELA-AU 6 135712199 135712199 single base substitution G A downstream_gene_variant MELA-AU 6 135712199 135712199 single base substitution G A intron_variant MELA-AU 6 135712425 135712425 single base substitution G T downstream_gene_variant MELA-AU 6 135712425 135712425 single base substitution G T intron_variant MELA-AU 6 135712541 135712541 single base substitution G A downstream_gene_variant MELA-AU 6 135712541 135712541 single base substitution G A intron_variant MELA-AU 6 135712705 135712705 single base substitution G A downstream_gene_variant MELA-AU 6 135712705 135712705 single base substitution G A intron_variant MELA-AU 6 135712948 135712948 single base substitution G A downstream_gene_variant MELA-AU 6 135712948 135712948 single base substitution G A intron_variant MELA-AU 6 135713389 135713389 single base substitution G A downstream_gene_variant MELA-AU 6 135713389 135713389 single base substitution G A intron_variant MELA-AU 6 135714544 135714544 single base substitution G A downstream_gene_variant MELA-AU 6 135714544 135714544 single base substitution G A intron_variant MELA-AU 6 135714577 135714577 single base substitution G A downstream_gene_variant MELA-AU 6 135714577 135714577 single base substitution G A intron_variant MELA-AU 6 135715818 135715818 single base substitution A G 3_prime_UTR_variant MELA-AU 6 135715818 135715818 single base substitution A G intron_variant MELA-AU 6 135717009 135717009 single base substitution A G intron_variant MELA-AU 6 135717424 135717424 single base substitution G A intron_variant MELA-AU 6 135718294 135718294 single base substitution G A intron_variant MELA-AU 6 135718648 135718648 single base substitution C T intron_variant MELA-AU 6 135720305 135720305 single base substitution G A intron_variant MELA-AU 6 135720325 135720325 single base substitution G A intron_variant MELA-AU 6 135720890 135720890 single base substitution G A intron_variant MELA-AU 6 135721037 135721037 single base substitution T A intron_variant MELA-AU 6 135721107 135721107 single base substitution G A intron_variant MELA-AU 6 135722241 135722241 single base substitution C T intron_variant MELA-AU 6 135722624 135722625 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 6 135722917 135722917 single base substitution G A intron_variant MELA-AU 6 135723001 135723001 single base substitution C A intron_variant MELA-AU 6 135723066 135723066 single base substitution C T intron_variant MELA-AU 6 135723258 135723258 single base substitution G A intron_variant MELA-AU 6 135723372 135723372 single base substitution G T intron_variant MELA-AU 6 135723836 135723836 single base substitution A T intron_variant MELA-AU 6 135724254 135724254 single base substitution G A intron_variant MELA-AU 6 135726056 135726056 single base substitution G A intron_variant MELA-AU 6 135726675 135726675 single base substitution G A intron_variant MELA-AU 6 135727359 135727359 single base substitution G A intron_variant MELA-AU 6 135728378 135728378 single base substitution A G intron_variant MELA-AU 6 135728462 135728462 single base substitution G A intron_variant MELA-AU 6 135728549 135728549 single base substitution G A intron_variant MELA-AU 6 135728649 135728649 single base substitution G A intron_variant MELA-AU 6 135729066 135729066 single base substitution G A intron_variant MELA-AU 6 135729156 135729156 single base substitution G A intron_variant MELA-AU 6 135730474 135730474 single base substitution G A intron_variant MELA-AU 6 135731505 135731505 single base substitution C T intron_variant MELA-AU 6 135731949 135731949 single base substitution C A intron_variant MELA-AU 6 135732011 135732011 single base substitution C A intron_variant MELA-AU 6 135732039 135732040 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 135732168 135732168 single base substitution C T intron_variant MELA-AU 6 135732338 135732338 single base substitution G A intron_variant MELA-AU 6 135732994 135732994 single base substitution G A intron_variant MELA-AU 6 135732994 135732994 single base substitution G A upstream_gene_variant MELA-AU 6 135733269 135733269 single base substitution C T intron_variant MELA-AU 6 135733269 135733269 single base substitution C T upstream_gene_variant MELA-AU 6 135733498 135733498 single base substitution G A intron_variant MELA-AU 6 135733498 135733498 single base substitution G A upstream_gene_variant MELA-AU 6 135734080 135734080 single base substitution G A intron_variant MELA-AU 6 135734080 135734080 single base substitution G A upstream_gene_variant MELA-AU 6 135734125 135734125 single base substitution G A intron_variant MELA-AU 6 135734125 135734125 single base substitution G A upstream_gene_variant MELA-AU 6 135734312 135734312 single base substitution G A intron_variant MELA-AU 6 135734312 135734312 single base substitution G A upstream_gene_variant MELA-AU 6 135734514 135734514 single base substitution G A intron_variant MELA-AU 6 135734514 135734514 single base substitution G A upstream_gene_variant MELA-AU 6 135734600 135734600 single base substitution G A intron_variant MELA-AU 6 135734600 135734600 single base substitution G A upstream_gene_variant MELA-AU 6 135735155 135735155 single base substitution G A intron_variant MELA-AU 6 135735155 135735155 single base substitution G A upstream_gene_variant MELA-AU 6 135738831 135738831 single base substitution C T intron_variant MELA-AU 6 135742484 135742484 single base substitution G A intron_variant MELA-AU 6 135742531 135742531 single base substitution G A intron_variant MELA-AU 6 135743538 135743538 single base substitution G A intron_variant MELA-AU 6 135743823 135743824 multiple base substitution (>=2bp and <=200bp) TC AA intron_variant MELA-AU 6 135743992 135743993 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 135744032 135744032 single base substitution T C intron_variant MELA-AU 6 135744679 135744679 single base substitution G A intron_variant MELA-AU 6 135744807 135744807 insertion of <=200bp - CTGTGTTTCATAACA intron_variant MELA-AU 6 135745360 135745360 single base substitution G A intron_variant MELA-AU 6 135745445 135745445 single base substitution G A intron_variant MELA-AU 6 135745620 135745620 single base substitution G A intron_variant MELA-AU 6 135746892 135746892 single base substitution G A intron_variant MELA-AU 6 135747526 135747526 single base substitution G A intron_variant MELA-AU 6 135748712 135748712 single base substitution G A intron_variant MELA-AU 6 135748861 135748861 single base substitution A C intron_variant MELA-AU 6 135750055 135750055 single base substitution A T intron_variant MELA-AU 6 135750059 135750059 single base substitution G A intron_variant MELA-AU 6 135750396 135750396 single base substitution C T intron_variant MELA-AU 6 135750795 135750795 single base substitution G A intron_variant MELA-AU 6 135752194 135752194 single base substitution G A intron_variant MELA-AU 6 135752223 135752223 single base substitution G A intron_variant MELA-AU 6 135752987 135752987 single base substitution G A intron_variant MELA-AU 6 135753421 135753421 single base substitution A T intron_variant MELA-AU 6 135753772 135753772 single base substitution G A intron_variant MELA-AU 6 135754576 135754576 single base substitution C T intron_variant MELA-AU 6 135755566 135755567 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 6 135755795 135755795 single base substitution G A intron_variant MELA-AU 6 135755798 135755798 single base substitution C A intron_variant MELA-AU 6 135756181 135756181 single base substitution G A intron_variant MELA-AU 6 135756713 135756713 single base substitution G A intron_variant MELA-AU 6 135757032 135757032 single base substitution G A intron_variant MELA-AU 6 135757339 135757339 single base substitution G A intron_variant MELA-AU 6 135757875 135757875 single base substitution G A intron_variant MELA-AU 6 135758374 135758374 single base substitution G A intron_variant MELA-AU 6 135759366 135759366 single base substitution G A intron_variant MELA-AU 6 135760369 135760370 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 6 135760989 135760989 single base substitution G A intron_variant MELA-AU 6 135761112 135761112 single base substitution G A intron_variant MELA-AU 6 135761387 135761387 single base substitution G A intron_variant MELA-AU 6 135761982 135761982 single base substitution G A intron_variant MELA-AU 6 135762896 135762896 single base substitution G A intron_variant MELA-AU 6 135763116 135763116 single base substitution G A intron_variant MELA-AU 6 135763828 135763828 single base substitution G A intron_variant MELA-AU 6 135763828 135763828 single base substitution G A missense_variant L101F 301C>T MELA-AU 6 135763828 135763828 single base substitution G A missense_variant L602F 1804C>T MELA-AU 6 135763828 135763828 single base substitution G A upstream_gene_variant MELA-AU 6 135764098 135764098 single base substitution G A intron_variant MELA-AU 6 135764098 135764098 single base substitution G A upstream_gene_variant MELA-AU 6 135764277 135764277 single base substitution A G intron_variant MELA-AU 6 135764277 135764277 single base substitution A G upstream_gene_variant MELA-AU 6 135764808 135764808 single base substitution C A intron_variant MELA-AU 6 135764808 135764808 single base substitution C A upstream_gene_variant MELA-AU 6 135765023 135765023 single base substitution G A intron_variant MELA-AU 6 135765023 135765023 single base substitution G A upstream_gene_variant MELA-AU 6 135766701 135766701 single base substitution T A intron_variant MELA-AU 6 135766701 135766701 single base substitution T A upstream_gene_variant MELA-AU 6 135766845 135766845 single base substitution G A intron_variant MELA-AU 6 135766845 135766845 single base substitution G A upstream_gene_variant MELA-AU 6 135767017 135767017 single base substitution A G intron_variant MELA-AU 6 135767017 135767017 single base substitution A G upstream_gene_variant MELA-AU 6 135767200 135767200 single base substitution A T intron_variant MELA-AU 6 135767200 135767200 single base substitution A T upstream_gene_variant MELA-AU 6 135767326 135767326 single base substitution G A intron_variant MELA-AU 6 135767326 135767326 single base substitution G A upstream_gene_variant MELA-AU 6 135767506 135767506 single base substitution C A intron_variant MELA-AU 6 135767506 135767506 single base substitution C A upstream_gene_variant MELA-AU 6 135767921 135767921 single base substitution T C intron_variant MELA-AU 6 135767921 135767921 single base substitution T C upstream_gene_variant MELA-AU 6 135768079 135768079 single base substitution G A intron_variant MELA-AU 6 135768079 135768079 single base substitution G A upstream_gene_variant MELA-AU 6 135768310 135768310 single base substitution T A intron_variant MELA-AU 6 135768310 135768310 single base substitution T A upstream_gene_variant MELA-AU 6 135770426 135770426 single base substitution G A intron_variant MELA-AU 6 135770426 135770426 single base substitution G A upstream_gene_variant MELA-AU 6 135772141 135772141 single base substitution C T intron_variant MELA-AU 6 135772141 135772141 single base substitution C T upstream_gene_variant MELA-AU 6 135772836 135772836 single base substitution G A intron_variant MELA-AU 6 135772836 135772836 single base substitution G A upstream_gene_variant MELA-AU 6 135772947 135772947 single base substitution G A intron_variant MELA-AU 6 135772947 135772947 single base substitution G A upstream_gene_variant MELA-AU 6 135772980 135772980 single base substitution C T intron_variant MELA-AU 6 135772980 135772980 single base substitution C T upstream_gene_variant MELA-AU 6 135773517 135773517 single base substitution C T intron_variant MELA-AU 6 135773517 135773517 single base substitution C T upstream_gene_variant MELA-AU 6 135774007 135774007 single base substitution G A intron_variant MELA-AU 6 135774007 135774007 single base substitution G A upstream_gene_variant MELA-AU 6 135774058 135774058 single base substitution G A intron_variant MELA-AU 6 135774058 135774058 single base substitution G A upstream_gene_variant MELA-AU 6 135775165 135775165 single base substitution G A intron_variant MELA-AU 6 135775404 135775404 single base substitution G A intron_variant MELA-AU 6 135776286 135776286 single base substitution G A intron_variant MELA-AU 6 135776527 135776527 single base substitution G A intron_variant MELA-AU 6 135777858 135777858 single base substitution A T intron_variant MELA-AU 6 135778098 135778098 single base substitution C T intron_variant MELA-AU 6 135778116 135778116 single base substitution G A intron_variant MELA-AU 6 135778232 135778232 single base substitution A T intron_variant MELA-AU 6 135779337 135779337 single base substitution G A downstream_gene_variant MELA-AU 6 135779337 135779337 single base substitution G A intron_variant MELA-AU 6 135780683 135780683 single base substitution C T downstream_gene_variant MELA-AU 6 135780683 135780683 single base substitution C T intron_variant MELA-AU 6 135780752 135780752 single base substitution G A downstream_gene_variant MELA-AU 6 135780752 135780752 single base substitution G A intron_variant MELA-AU 6 135781310 135781310 single base substitution G C downstream_gene_variant MELA-AU 6 135781310 135781310 single base substitution G C intron_variant MELA-AU 6 135781489 135781489 single base substitution G A downstream_gene_variant MELA-AU 6 135781489 135781489 single base substitution G A intron_variant MELA-AU 6 135781531 135781531 single base substitution G A downstream_gene_variant MELA-AU 6 135781531 135781531 single base substitution G A intron_variant MELA-AU 6 135782185 135782185 single base substitution G A downstream_gene_variant MELA-AU 6 135782185 135782185 single base substitution G A intron_variant MELA-AU 6 135782339 135782339 single base substitution A C downstream_gene_variant MELA-AU 6 135782339 135782339 single base substitution A C intron_variant MELA-AU 6 135783525 135783525 single base substitution G A downstream_gene_variant MELA-AU 6 135783525 135783525 single base substitution G A intron_variant MELA-AU 6 135783728 135783728 single base substitution G A downstream_gene_variant MELA-AU 6 135783728 135783728 single base substitution G A intron_variant MELA-AU 6 135783933 135783933 single base substitution G A downstream_gene_variant MELA-AU 6 135783933 135783933 single base substitution G A intron_variant MELA-AU 6 135784574 135784574 single base substitution G A intron_variant MELA-AU 6 135785001 135785001 single base substitution C T intron_variant MELA-AU 6 135785073 135785073 single base substitution G A intron_variant MELA-AU 6 135786026 135786026 single base substitution G A intron_variant MELA-AU 6 135787043 135787043 single base substitution G A exon_variant MELA-AU 6 135787043 135787043 single base substitution G A missense_variant P202S 604C>T MELA-AU 6 135787043 135787043 single base substitution G A missense_variant P220S 658C>T MELA-AU 6 135787301 135787301 single base substitution G A exon_variant MELA-AU 6 135787301 135787301 single base substitution G A missense_variant P116S 346C>T MELA-AU 6 135787301 135787301 single base substitution G A missense_variant P134S 400C>T MELA-AU 6 135787783 135787783 single base substitution T A intron_variant MELA-AU 6 135787852 135787852 single base substitution G A intron_variant MELA-AU 6 135788106 135788106 single base substitution T C intron_variant MELA-AU 6 135788470 135788470 single base substitution G A intron_variant MELA-AU 6 135788629 135788629 single base substitution G A intron_variant MELA-AU 6 135789097 135789097 single base substitution T A intron_variant MELA-AU 6 135789437 135789437 single base substitution G A intron_variant MELA-AU 6 135790906 135790906 single base substitution G A intron_variant MELA-AU 6 135791272 135791272 single base substitution G A intron_variant MELA-AU 6 135791936 135791936 single base substitution G A intron_variant MELA-AU 6 135791952 135791952 single base substitution G A intron_variant MELA-AU 6 135792258 135792258 single base substitution A G intron_variant MELA-AU 6 135792312 135792312 single base substitution G A intron_variant MELA-AU 6 135793097 135793097 single base substitution C T intron_variant MELA-AU 6 135793186 135793186 single base substitution A T intron_variant MELA-AU 6 135793724 135793724 single base substitution C T intron_variant MELA-AU 6 135793767 135793767 single base substitution C T intron_variant MELA-AU 6 135794785 135794785 single base substitution G A intron_variant MELA-AU 6 135795322 135795322 single base substitution G A intron_variant MELA-AU 6 135795685 135795685 single base substitution G A intron_variant MELA-AU 6 135796193 135796193 single base substitution G A intron_variant MELA-AU 6 135797096 135797096 single base substitution G A intron_variant MELA-AU 6 135798716 135798716 single base substitution G A intron_variant MELA-AU 6 135799104 135799104 single base substitution T C intron_variant MELA-AU 6 135799619 135799619 single base substitution G A intron_variant MELA-AU 6 135799665 135799665 single base substitution G A intron_variant MELA-AU 6 135799679 135799679 insertion of <=200bp - A intron_variant MELA-AU 6 135799918 135799918 single base substitution A C intron_variant MELA-AU 6 135800195 135800195 single base substitution G A intron_variant MELA-AU 6 135800828 135800828 single base substitution G A intron_variant MELA-AU 6 135801388 135801388 single base substitution A C intron_variant MELA-AU 6 135802135 135802135 single base substitution G A intron_variant MELA-AU 6 135802944 135802944 single base substitution G A intron_variant MELA-AU 6 135803478 135803478 single base substitution C T intron_variant MELA-AU 6 135804344 135804344 single base substitution G A intron_variant MELA-AU 6 135804663 135804663 single base substitution G A intron_variant MELA-AU 6 135804999 135804999 single base substitution G A intron_variant MELA-AU 6 135805180 135805180 single base substitution C T intron_variant MELA-AU 6 135805220 135805220 single base substitution G A intron_variant MELA-AU 6 135805253 135805253 single base substitution G A intron_variant MELA-AU 6 135805278 135805278 single base substitution G A intron_variant MELA-AU 6 135806036 135806036 single base substitution G A intron_variant MELA-AU 6 135807146 135807146 single base substitution G A downstream_gene_variant MELA-AU 6 135807146 135807146 single base substitution G A intron_variant MELA-AU 6 135807350 135807350 single base substitution G A downstream_gene_variant MELA-AU 6 135807350 135807350 single base substitution G A intron_variant MELA-AU 6 135808172 135808172 single base substitution G A downstream_gene_variant MELA-AU 6 135808172 135808172 single base substitution G A intron_variant MELA-AU 6 135808206 135808206 single base substitution G A downstream_gene_variant MELA-AU 6 135808206 135808206 single base substitution G A intron_variant MELA-AU 6 135808491 135808491 single base substitution G T downstream_gene_variant MELA-AU 6 135808491 135808491 single base substitution G T intron_variant MELA-AU 6 135808992 135808992 single base substitution C G downstream_gene_variant MELA-AU 6 135808992 135808992 single base substitution C G intron_variant MELA-AU 6 135809014 135809014 single base substitution G A downstream_gene_variant MELA-AU 6 135809014 135809014 single base substitution G A intron_variant MELA-AU 6 135810031 135810031 single base substitution C T downstream_gene_variant MELA-AU 6 135810031 135810031 single base substitution C T intron_variant MELA-AU 6 135810067 135810067 single base substitution T C downstream_gene_variant MELA-AU 6 135810067 135810067 single base substitution T C intron_variant MELA-AU 6 135810661 135810661 single base substitution G A downstream_gene_variant MELA-AU 6 135810661 135810661 single base substitution G A intron_variant MELA-AU 6 135811343 135811343 single base substitution G C downstream_gene_variant MELA-AU 6 135811343 135811343 single base substitution G C intron_variant MELA-AU 6 135811343 135811343 single base substitution G C synonymous_variant A52A 156C>G MELA-AU 6 135811510 135811510 single base substitution C A downstream_gene_variant MELA-AU 6 135811510 135811510 single base substitution C A intron_variant MELA-AU 6 135812162 135812162 single base substitution C T downstream_gene_variant MELA-AU 6 135812162 135812162 single base substitution C T intron_variant MELA-AU 6 135813099 135813099 single base substitution G A downstream_gene_variant MELA-AU 6 135813099 135813099 single base substitution G A intron_variant MELA-AU 6 135814615 135814615 single base substitution G A intron_variant MELA-AU 6 135814615 135814615 single base substitution G A upstream_gene_variant MELA-AU 6 135815124 135815124 single base substitution G A intron_variant MELA-AU 6 135815124 135815124 single base substitution G A upstream_gene_variant MELA-AU 6 135815238 135815238 single base substitution A C intron_variant MELA-AU 6 135815238 135815238 single base substitution A C upstream_gene_variant MELA-AU 6 135815250 135815250 single base substitution A C intron_variant MELA-AU 6 135815250 135815250 single base substitution A C upstream_gene_variant MELA-AU 6 135815940 135815940 single base substitution G A intron_variant MELA-AU 6 135815940 135815940 single base substitution G A upstream_gene_variant MELA-AU 6 135815999 135815999 single base substitution G A intron_variant MELA-AU 6 135815999 135815999 single base substitution G A upstream_gene_variant MELA-AU 6 135816047 135816047 single base substitution G A intron_variant MELA-AU 6 135816047 135816047 single base substitution G A upstream_gene_variant MELA-AU 6 135817870 135817870 single base substitution T A intron_variant MELA-AU 6 135817870 135817870 single base substitution T A upstream_gene_variant MELA-AU 6 135817878 135817878 single base substitution G A intron_variant MELA-AU 6 135817878 135817878 single base substitution G A upstream_gene_variant MELA-AU 6 135818161 135818161 single base substitution G A intron_variant MELA-AU 6 135818161 135818161 single base substitution G A upstream_gene_variant MELA-AU 6 135818896 135818896 single base substitution G A 5_prime_UTR_variant MELA-AU 6 135818896 135818896 single base substitution G A upstream_gene_variant MELA-AU 6 135818950 135818950 single base substitution T A upstream_gene_variant MELA-AU 6 135819552 135819552 single base substitution C T upstream_gene_variant MELA-AU 6 135819947 135819947 single base substitution C T upstream_gene_variant MELA-AU 6 135821169 135821169 single base substitution G A upstream_gene_variant MELA-AU 6 135821818 135821818 single base substitution G T upstream_gene_variant MELA-AU 6 135821820 135821820 single base substitution T C upstream_gene_variant MELA-AU 6 135822490 135822490 single base substitution G A upstream_gene_variant MELA-AU 6 135823744 135823744 single base substitution T G upstream_gene_variant ORCA-IN 6 135607894 135607894 single base substitution T G intron_variant ORCA-IN 6 135610169 135610169 single base substitution C G intron_variant ORCA-IN 6 135633608 135633608 single base substitution C T intron_variant ORCA-IN 6 135645708 135645708 single base substitution A T intron_variant ORCA-IN 6 135645708 135645708 single base substitution A T upstream_gene_variant ORCA-IN 6 135682791 135682791 single base substitution A T intron_variant ORCA-IN 6 135719143 135719143 single base substitution C T intron_variant ORCA-IN 6 135729678 135729678 single base substitution T A intron_variant ORCA-IN 6 135730721 135730721 single base substitution T G intron_variant ORCA-IN 6 135734008 135734008 single base substitution G A intron_variant ORCA-IN 6 135734008 135734008 single base substitution G A upstream_gene_variant ORCA-IN 6 135752406 135752406 single base substitution C G 3_prime_UTR_variant ORCA-IN 6 135752406 135752406 single base substitution C G exon_variant ORCA-IN 6 135752406 135752406 single base substitution C G missense_variant W125C 375G>C ORCA-IN 6 135752406 135752406 single base substitution C G missense_variant W270C 810G>C ORCA-IN 6 135752406 135752406 single base substitution C G missense_variant W771C 2313G>C ORCA-IN 6 135753782 135753782 single base substitution G A intron_variant ORCA-IN 6 135765421 135765421 single base substitution G T intron_variant ORCA-IN 6 135765421 135765421 single base substitution G T upstream_gene_variant ORCA-IN 6 135769471 135769471 single base substitution G A exon_variant ORCA-IN 6 135769471 135769471 single base substitution G A missense_variant S27L 80C>T ORCA-IN 6 135769471 135769471 single base substitution G A missense_variant S528L 1583C>T ORCA-IN 6 135778923 135778923 single base substitution C A intron_variant ORCA-IN 6 135786502 135786502 single base substitution C G intron_variant ORCA-IN 6 135794896 135794896 single base substitution A T intron_variant ORCA-IN 6 135796685 135796685 single base substitution G C intron_variant ORCA-IN 6 135797121 135797121 single base substitution C G intron_variant ORCA-IN 6 135811886 135811886 single base substitution C A downstream_gene_variant ORCA-IN 6 135811886 135811886 single base substitution C A splice_acceptor_variant OV-AU 6 135619129 135619129 single base substitution C G downstream_gene_variant OV-AU 6 135619129 135619129 single base substitution C G intron_variant OV-AU 6 135620255 135620255 single base substitution A C downstream_gene_variant OV-AU 6 135620255 135620255 single base substitution A C intron_variant OV-AU 6 135621300 135621300 single base substitution T G downstream_gene_variant OV-AU 6 135621300 135621300 single base substitution T G intron_variant OV-AU 6 135623799 135623799 single base substitution G C exon_variant OV-AU 6 135623799 135623799 single base substitution G C intron_variant OV-AU 6 135623799 135623799 single base substitution G C upstream_gene_variant OV-AU 6 135632210 135632210 single base substitution C T intron_variant OV-AU 6 135642276 135642276 single base substitution C G intron_variant OV-AU 6 135647575 135647575 single base substitution A T intron_variant OV-AU 6 135647575 135647575 single base substitution A T upstream_gene_variant OV-AU 6 135661487 135661487 single base substitution C T intron_variant OV-AU 6 135663753 135663753 single base substitution C A intron_variant OV-AU 6 135666581 135666581 single base substitution G C intron_variant OV-AU 6 135673854 135673854 single base substitution C T intron_variant OV-AU 6 135686933 135686933 single base substitution C T intron_variant OV-AU 6 135695222 135695222 single base substitution A G intron_variant OV-AU 6 135697759 135697759 single base substitution C G intron_variant OV-AU 6 135702145 135702145 single base substitution C T intron_variant OV-AU 6 135706965 135706965 single base substitution A G downstream_gene_variant OV-AU 6 135706965 135706965 single base substitution A G intron_variant OV-AU 6 135709809 135709809 single base substitution G A intron_variant OV-AU 6 135711149 135711149 single base substitution G T downstream_gene_variant OV-AU 6 135711149 135711149 single base substitution G T intron_variant OV-AU 6 135712778 135712778 single base substitution A G downstream_gene_variant OV-AU 6 135712778 135712778 single base substitution A G intron_variant OV-AU 6 135719561 135719561 single base substitution C G intron_variant OV-AU 6 135721555 135721555 single base substitution C G intron_variant OV-AU 6 135735213 135735213 single base substitution A C intron_variant OV-AU 6 135735213 135735213 single base substitution A C upstream_gene_variant OV-AU 6 135739696 135739696 single base substitution G A intron_variant OV-AU 6 135740736 135740736 single base substitution T C intron_variant OV-AU 6 135741447 135741447 single base substitution A T intron_variant OV-AU 6 135742531 135742531 single base substitution G C intron_variant OV-AU 6 135746175 135746175 single base substitution T A intron_variant OV-AU 6 135767649 135767649 single base substitution T C intron_variant OV-AU 6 135767649 135767649 single base substitution T C upstream_gene_variant OV-AU 6 135769240 135769240 single base substitution C G intron_variant OV-AU 6 135772632 135772632 single base substitution C A intron_variant OV-AU 6 135772632 135772632 single base substitution C A upstream_gene_variant OV-AU 6 135773403 135773403 single base substitution T C intron_variant OV-AU 6 135773403 135773403 single base substitution T C upstream_gene_variant OV-AU 6 135789138 135789138 single base substitution C G intron_variant OV-AU 6 135791166 135791166 single base substitution C G intron_variant OV-AU 6 135808603 135808603 single base substitution G C downstream_gene_variant OV-AU 6 135808603 135808603 single base substitution G C intron_variant OV-AU 6 135811058 135811058 single base substitution C T 3_prime_UTR_variant OV-AU 6 135811058 135811058 single base substitution C T downstream_gene_variant OV-AU 6 135811058 135811058 single base substitution C T intron_variant OV-AU 6 135811971 135811971 single base substitution T C downstream_gene_variant OV-AU 6 135811971 135811971 single base substitution T C intron_variant OV-AU 6 135816837 135816837 single base substitution T C exon_variant OV-AU 6 135816837 135816837 single base substitution T C intron_variant OV-AU 6 135816837 135816837 single base substitution T C upstream_gene_variant PACA-AU 6 135602536 135602536 single base substitution C T downstream_gene_variant PACA-AU 6 135613366 135613366 single base substitution T C intron_variant PACA-AU 6 135615463 135615467 deletion of <=200bp CAAAA - intron_variant PACA-AU 6 135631800 135631800 single base substitution C T intron_variant PACA-AU 6 135631803 135631803 single base substitution G C intron_variant PACA-AU 6 135638467 135638467 single base substitution C A downstream_gene_variant PACA-AU 6 135638467 135638467 single base substitution C A intron_variant PACA-AU 6 135640231 135640231 single base substitution C A intron_variant PACA-AU 6 135647575 135647575 single base substitution A T intron_variant PACA-AU 6 135647575 135647575 single base substitution A T upstream_gene_variant PACA-AU 6 135647594 135647594 single base substitution C T intron_variant PACA-AU 6 135647594 135647594 single base substitution C T upstream_gene_variant PACA-AU 6 135651673 135651673 single base substitution A G intron_variant PACA-AU 6 135660616 135660616 single base substitution C G intron_variant PACA-AU 6 135660808 135660808 single base substitution G C intron_variant PACA-AU 6 135664693 135664693 deletion of <=200bp A - intron_variant PACA-AU 6 135666995 135666995 single base substitution T A intron_variant PACA-AU 6 135667482 135667482 single base substitution G A intron_variant PACA-AU 6 135668950 135668950 single base substitution T A intron_variant PACA-AU 6 135673672 135673672 single base substitution C A intron_variant PACA-AU 6 135673848 135673848 single base substitution T C intron_variant PACA-AU 6 135673850 135673850 single base substitution T C intron_variant PACA-AU 6 135674586 135674586 single base substitution G C intron_variant PACA-AU 6 135682554 135682554 insertion of <=200bp - T intron_variant PACA-AU 6 135683269 135683270 deletion of <=200bp TA - intron_variant PACA-AU 6 135686271 135686271 single base substitution G C intron_variant PACA-AU 6 135695608 135695608 single base substitution A G intron_variant PACA-AU 6 135698601 135698601 insertion of <=200bp - TTAT intron_variant PACA-AU 6 135699625 135699625 single base substitution C T intron_variant PACA-AU 6 135702385 135702385 single base substitution C G intron_variant PACA-AU 6 135706583 135706583 single base substitution A G downstream_gene_variant PACA-AU 6 135706583 135706583 single base substitution A G intron_variant PACA-AU 6 135708159 135708159 single base substitution T C downstream_gene_variant PACA-AU 6 135708159 135708159 single base substitution T C intron_variant PACA-AU 6 135713018 135713018 single base substitution C T downstream_gene_variant PACA-AU 6 135713018 135713018 single base substitution C T intron_variant PACA-AU 6 135719041 135719041 single base substitution T C intron_variant PACA-AU 6 135722641 135722641 single base substitution T C intron_variant PACA-AU 6 135722983 135722983 deletion of <=200bp A - intron_variant PACA-AU 6 135728104 135728104 single base substitution C T intron_variant PACA-AU 6 135729252 135729252 single base substitution G A intron_variant PACA-AU 6 135739940 135739947 deletion of <=200bp TAATTTCT - intron_variant PACA-AU 6 135751128 135751128 single base substitution T A 3_prime_UTR_variant PACA-AU 6 135751128 135751128 single base substitution T A exon_variant PACA-AU 6 135751128 135751128 single base substitution T A missense_variant E149V 446A>T PACA-AU 6 135751128 135751128 single base substitution T A missense_variant E294V 881A>T PACA-AU 6 135751128 135751128 single base substitution T A missense_variant E795V 2384A>T PACA-AU 6 135752151 135752151 single base substitution T G intron_variant PACA-AU 6 135755691 135755691 single base substitution C A intron_variant PACA-AU 6 135766693 135766693 single base substitution T A intron_variant PACA-AU 6 135766693 135766693 single base substitution T A upstream_gene_variant PACA-AU 6 135768354 135768354 single base substitution C G intron_variant PACA-AU 6 135768354 135768354 single base substitution C G upstream_gene_variant PACA-AU 6 135768612 135768612 single base substitution C T intron_variant PACA-AU 6 135768612 135768612 single base substitution C T upstream_gene_variant PACA-AU 6 135773012 135773012 single base substitution C G intron_variant PACA-AU 6 135773012 135773012 single base substitution C G upstream_gene_variant PACA-AU 6 135775526 135775526 single base substitution C T intron_variant PACA-AU 6 135777709 135777709 single base substitution T C intron_variant PACA-AU 6 135778068 135778068 single base substitution C G intron_variant PACA-AU 6 135779623 135779623 single base substitution G C downstream_gene_variant PACA-AU 6 135779623 135779623 single base substitution G C intron_variant PACA-AU 6 135780870 135780870 single base substitution G A downstream_gene_variant PACA-AU 6 135780870 135780870 single base substitution G A intron_variant PACA-AU 6 135782514 135782514 single base substitution T C downstream_gene_variant PACA-AU 6 135782514 135782514 single base substitution T C intron_variant PACA-AU 6 135783665 135783665 single base substitution G A downstream_gene_variant PACA-AU 6 135783665 135783665 single base substitution G A intron_variant PACA-AU 6 135786259 135786259 single base substitution G A intron_variant PACA-AU 6 135790634 135790634 deletion of <=200bp A - intron_variant PACA-AU 6 135790758 135790758 single base substitution C G intron_variant PACA-AU 6 135790911 135790911 deletion of <=200bp T - intron_variant PACA-AU 6 135792287 135792287 single base substitution G A intron_variant PACA-AU 6 135813764 135813764 single base substitution C G intron_variant PACA-AU 6 135813764 135813764 single base substitution C G upstream_gene_variant PACA-AU 6 135816067 135816067 single base substitution G A intron_variant PACA-AU 6 135816067 135816067 single base substitution G A upstream_gene_variant PACA-AU 6 135816542 135816542 single base substitution C G 5_prime_UTR_variant PACA-AU 6 135816542 135816542 single base substitution C G intron_variant PACA-AU 6 135816542 135816542 single base substitution C G upstream_gene_variant PACA-AU 6 135821301 135821301 single base substitution C G upstream_gene_variant PACA-CA 6 135604432 135604445 deletion of <=200bp AAAACTTGATTTTT - downstream_gene_variant PACA-CA 6 135607528 135607528 single base substitution T C intron_variant PACA-CA 6 135607954 135607954 single base substitution G C intron_variant PACA-CA 6 135609256 135609256 insertion of <=200bp - A intron_variant PACA-CA 6 135610735 135610735 single base substitution G T intron_variant PACA-CA 6 135616185 135616185 single base substitution T G intron_variant PACA-CA 6 135616420 135616420 single base substitution G A intron_variant PACA-CA 6 135616611 135616611 insertion of <=200bp - A intron_variant PACA-CA 6 135618098 135618098 single base substitution T C intron_variant PACA-CA 6 135618197 135618197 single base substitution C T intron_variant PACA-CA 6 135622363 135622363 insertion of <=200bp - T downstream_gene_variant PACA-CA 6 135622363 135622363 insertion of <=200bp - T intron_variant PACA-CA 6 135622363 135622363 insertion of <=200bp - T upstream_gene_variant PACA-CA 6 135626415 135626415 single base substitution A C intron_variant PACA-CA 6 135626415 135626415 single base substitution A C upstream_gene_variant PACA-CA 6 135632941 135632941 single base substitution A T intron_variant PACA-CA 6 135633666 135633666 deletion of <=200bp A - intron_variant PACA-CA 6 135638484 135638484 single base substitution T G downstream_gene_variant PACA-CA 6 135638484 135638484 single base substitution T G intron_variant PACA-CA 6 135649973 135649973 single base substitution A C intron_variant PACA-CA 6 135651112 135651112 single base substitution G A intron_variant PACA-CA 6 135653353 135653353 single base substitution G A intron_variant PACA-CA 6 135653600 135653600 single base substitution C G intron_variant PACA-CA 6 135654723 135654723 single base substitution G A intron_variant PACA-CA 6 135655501 135655501 single base substitution C A intron_variant PACA-CA 6 135664371 135664371 deletion of <=200bp A - intron_variant PACA-CA 6 135665131 135665131 single base substitution A G intron_variant PACA-CA 6 135666556 135666556 single base substitution C A intron_variant PACA-CA 6 135673220 135673220 single base substitution C T intron_variant PACA-CA 6 135673891 135673891 insertion of <=200bp - AT intron_variant PACA-CA 6 135679271 135679271 single base substitution G A missense_variant T1055M 3164C>T PACA-CA 6 135679271 135679271 single base substitution G A missense_variant T409M 1226C>T PACA-CA 6 135679271 135679271 single base substitution G A missense_variant T554M 1661C>T PACA-CA 6 135679271 135679271 single base substitution G A splice_region_variant PACA-CA 6 135683268 135683268 insertion of <=200bp - TA intron_variant PACA-CA 6 135685012 135685012 single base substitution C T intron_variant PACA-CA 6 135687186 135687186 single base substitution C T intron_variant PACA-CA 6 135688902 135688902 single base substitution T A intron_variant PACA-CA 6 135690394 135690394 single base substitution A G intron_variant PACA-CA 6 135696415 135696415 single base substitution G C intron_variant PACA-CA 6 135701882 135701882 single base substitution C A intron_variant PACA-CA 6 135707460 135707460 single base substitution C T downstream_gene_variant PACA-CA 6 135707460 135707460 single base substitution C T intron_variant PACA-CA 6 135711697 135711697 single base substitution G A downstream_gene_variant PACA-CA 6 135711697 135711697 single base substitution G A intron_variant PACA-CA 6 135716557 135716557 single base substitution C T intron_variant PACA-CA 6 135717478 135717478 single base substitution C T intron_variant PACA-CA 6 135718134 135718134 insertion of <=200bp - A intron_variant PACA-CA 6 135722016 135722016 single base substitution C T intron_variant PACA-CA 6 135727014 135727014 single base substitution A G intron_variant PACA-CA 6 135731415 135731415 single base substitution G A intron_variant PACA-CA 6 135732440 135732440 single base substitution A T intron_variant PACA-CA 6 135745202 135745202 single base substitution C T intron_variant PACA-CA 6 135745743 135745743 deletion of <=200bp A - intron_variant PACA-CA 6 135746006 135746006 single base substitution A T intron_variant PACA-CA 6 135747970 135747970 single base substitution T C intron_variant PACA-CA 6 135750711 135750711 deletion of <=200bp T - intron_variant PACA-CA 6 135754635 135754635 single base substitution A T intron_variant PACA-CA 6 135754939 135754949 deletion of <=200bp TAAAATAAGAT - intron_variant PACA-CA 6 135757738 135757738 single base substitution G A intron_variant PACA-CA 6 135758753 135758753 single base substitution A C intron_variant PACA-CA 6 135759978 135759999 deletion of <=200bp TCATTATTATTTCACCTGAAAA - intron_variant PACA-CA 6 135766813 135766813 single base substitution C T intron_variant PACA-CA 6 135766813 135766813 single base substitution C T upstream_gene_variant PACA-CA 6 135778586 135778586 single base substitution A G intron_variant PACA-CA 6 135789865 135789865 single base substitution G A intron_variant PACA-CA 6 135791909 135791909 single base substitution A G intron_variant PACA-CA 6 135795035 135795035 single base substitution G A intron_variant PACA-CA 6 135795222 135795222 single base substitution T C intron_variant PACA-CA 6 135795371 135795371 single base substitution T A intron_variant PACA-CA 6 135799330 135799330 single base substitution T C intron_variant PACA-CA 6 135804210 135804210 single base substitution G T intron_variant PACA-CA 6 135806714 135806714 single base substitution A G downstream_gene_variant PACA-CA 6 135806714 135806714 single base substitution A G intron_variant PACA-CA 6 135817704 135817704 single base substitution A C intron_variant PACA-CA 6 135817704 135817704 single base substitution A C upstream_gene_variant PACA-CA 6 135820081 135820081 single base substitution T G upstream_gene_variant PACA-CA 6 135820222 135820222 single base substitution C T upstream_gene_variant PACA-CA 6 135821287 135821287 single base substitution G A upstream_gene_variant PACA-CA 6 135823285 135823285 single base substitution C T upstream_gene_variant PAEN-AU 6 135603076 135603076 single base substitution G C downstream_gene_variant PAEN-AU 6 135605125 135605125 single base substitution G A 3_prime_UTR_variant PAEN-AU 6 135605125 135605125 single base substitution G A downstream_gene_variant PAEN-AU 6 135713441 135713445 deletion of <=200bp AAAGA - downstream_gene_variant PAEN-AU 6 135713441 135713445 deletion of <=200bp AAAGA - intron_variant PAEN-AU 6 135727036 135727036 single base substitution G A intron_variant PAEN-AU 6 135728686 135728686 single base substitution T C intron_variant PAEN-AU 6 135750842 135750842 single base substitution C T intron_variant PAEN-AU 6 135781851 135781851 single base substitution T A downstream_gene_variant PAEN-AU 6 135781851 135781851 single base substitution T A intron_variant PAEN-IT 6 135618050 135618050 single base substitution C A intron_variant PAEN-IT 6 135767760 135767760 single base substitution G A intron_variant PAEN-IT 6 135767760 135767760 single base substitution G A upstream_gene_variant PBCA-DE 6 135605663 135605663 single base substitution T A 3_prime_UTR_variant PBCA-DE 6 135605663 135605663 single base substitution T A downstream_gene_variant PBCA-DE 6 135613248 135613249 deletion of <=200bp AC - intron_variant PBCA-DE 6 135629699 135629699 single base substitution A G intron_variant PBCA-DE 6 135642711 135642711 single base substitution G A intron_variant PBCA-DE 6 135651084 135651084 single base substitution A G intron_variant PBCA-DE 6 135658297 135658297 deletion of <=200bp A - intron_variant PBCA-DE 6 135670136 135670136 single base substitution T A intron_variant PBCA-DE 6 135687337 135687337 single base substitution G T intron_variant PBCA-DE 6 135707449 135707449 deletion of <=200bp T - downstream_gene_variant PBCA-DE 6 135707449 135707449 deletion of <=200bp T - intron_variant PBCA-DE 6 135710860 135710860 single base substitution A T downstream_gene_variant PBCA-DE 6 135710860 135710860 single base substitution A T intron_variant PBCA-DE 6 135714260 135714260 single base substitution C T downstream_gene_variant PBCA-DE 6 135714260 135714260 single base substitution C T intron_variant PBCA-DE 6 135739988 135739988 single base substitution C A intron_variant PBCA-DE 6 135741106 135741106 single base substitution T A intron_variant PBCA-DE 6 135752258 135752258 single base substitution A G intron_variant PBCA-DE 6 135766860 135766860 single base substitution G A intron_variant PBCA-DE 6 135766860 135766860 single base substitution G A upstream_gene_variant PBCA-DE 6 135784564 135784564 single base substitution T C intron_variant PBCA-DE 6 135788867 135788867 single base substitution G T intron_variant PBCA-DE 6 135789445 135789445 single base substitution C A intron_variant PBCA-DE 6 135798799 135798800 deletion of <=200bp CT - intron_variant PBCA-DE 6 135799923 135799923 single base substitution C T intron_variant PBCA-DE 6 135801596 135801596 deletion of <=200bp A - intron_variant PBCA-DE 6 135813253 135813253 single base substitution C G downstream_gene_variant PBCA-DE 6 135813253 135813253 single base substitution C G intron_variant PBCA-DE 6 135818897 135818897 single base substitution C A 5_prime_UTR_variant PBCA-DE 6 135818897 135818897 single base substitution C A upstream_gene_variant PBCA-DE 6 135823269 135823270 deletion of <=200bp TA - upstream_gene_variant PRAD-CA 6 135644510 135644510 single base substitution G A exon_variant PRAD-CA 6 135644510 135644510 single base substitution G A intron_variant PRAD-CA 6 135655564 135655564 single base substitution T C intron_variant PRAD-CA 6 135681348 135681348 single base substitution A C intron_variant PRAD-CA 6 135699475 135699475 single base substitution T C intron_variant PRAD-CA 6 135701467 135701467 single base substitution A G intron_variant PRAD-CA 6 135753651 135753651 single base substitution C A intron_variant PRAD-CA 6 135757322 135757322 single base substitution G A intron_variant PRAD-CA 6 135774818 135774818 single base substitution G A intron_variant PRAD-CA 6 135788588 135788588 single base substitution A T intron_variant PRAD-CA 6 135792866 135792866 single base substitution T A intron_variant PRAD-CA 6 135796213 135796213 single base substitution G A intron_variant PRAD-UK 6 135600828 135600828 single base substitution G T downstream_gene_variant PRAD-UK 6 135606882 135606882 single base substitution T C intron_variant PRAD-UK 6 135609078 135609078 single base substitution C A intron_variant PRAD-UK 6 135611177 135611177 single base substitution C G intron_variant PRAD-UK 6 135615680 135615680 single base substitution A C intron_variant PRAD-UK 6 135624619 135624619 single base substitution T A intron_variant PRAD-UK 6 135624619 135624619 single base substitution T A upstream_gene_variant PRAD-UK 6 135625365 135625365 deletion of <=200bp T - intron_variant PRAD-UK 6 135625365 135625365 deletion of <=200bp T - upstream_gene_variant PRAD-UK 6 135634401 135634401 insertion of <=200bp - AT intron_variant PRAD-UK 6 135652681 135652681 single base substitution A G intron_variant PRAD-UK 6 135654684 135654684 deletion of <=200bp A - intron_variant PRAD-UK 6 135655362 135655362 single base substitution C G intron_variant PRAD-UK 6 135674354 135674354 single base substitution C T intron_variant PRAD-UK 6 135675876 135675876 single base substitution T C intron_variant PRAD-UK 6 135676054 135676054 single base substitution T A intron_variant PRAD-UK 6 135689402 135689402 single base substitution C A intron_variant PRAD-UK 6 135699076 135699076 single base substitution T C intron_variant PRAD-UK 6 135706711 135706711 single base substitution C T downstream_gene_variant PRAD-UK 6 135706711 135706711 single base substitution C T intron_variant PRAD-UK 6 135707759 135707777 deletion of <=200bp TTTTTCTTTTCTTTTTTTG - downstream_gene_variant PRAD-UK 6 135707759 135707777 deletion of <=200bp TTTTTCTTTTCTTTTTTTG - intron_variant PRAD-UK 6 135712140 135712178 deletion of <=200bp TTGTAATTTTTTTCTTCTAAAAATTACTCAGGGAAGATG - downstream_gene_variant PRAD-UK 6 135712140 135712178 deletion of <=200bp TTGTAATTTTTTTCTTCTAAAAATTACTCAGGGAAGATG - intron_variant PRAD-UK 6 135719548 135719548 deletion of <=200bp A - intron_variant PRAD-UK 6 135729337 135729337 single base substitution G C intron_variant PRAD-UK 6 135738969 135738969 single base substitution T A intron_variant PRAD-UK 6 135751165 135751165 single base substitution A G intron_variant PRAD-UK 6 135774786 135774786 single base substitution A C intron_variant PRAD-UK 6 135778182 135778182 single base substitution G A intron_variant PRAD-UK 6 135780777 135780777 single base substitution T C downstream_gene_variant PRAD-UK 6 135780777 135780777 single base substitution T C intron_variant PRAD-UK 6 135785408 135785408 single base substitution C G intron_variant PRAD-UK 6 135800660 135800660 single base substitution T G intron_variant PRAD-UK 6 135818587 135818587 single base substitution C G intron_variant PRAD-UK 6 135818587 135818587 single base substitution C G upstream_gene_variant PRAD-UK 6 135822562 135822562 single base substitution T A upstream_gene_variant PRAD-UK 6 135823156 135823156 single base substitution C T upstream_gene_variant PRAD-US 6 135787164 135787164 single base substitution C A exon_variant PRAD-US 6 135787164 135787164 single base substitution C A missense_variant E161D 483G>T PRAD-US 6 135787164 135787164 single base substitution C A missense_variant E179D 537G>T PRAD-US 6 135787209 135787209 single base substitution G A exon_variant PRAD-US 6 135787209 135787209 single base substitution G A synonymous_variant G146G 438C>T PRAD-US 6 135787209 135787209 single base substitution G A synonymous_variant G164G 492C>T READ-US 6 135759581 135759581 single base substitution G T 3_prime_UTR_variant READ-US 6 135759581 135759581 single base substitution G T exon_variant READ-US 6 135759581 135759581 single base substitution G T synonymous_variant I10I 30C>A READ-US 6 135759581 135759581 single base substitution G T synonymous_variant I155I 465C>A READ-US 6 135759581 135759581 single base substitution G T synonymous_variant I656I 1968C>A READ-US 6 135778768 135778768 single base substitution G A exon_variant READ-US 6 135778768 135778768 single base substitution G A missense_variant L339F 1015C>T READ-US 6 135784283 135784283 insertion of <=200bp - T exon_variant READ-US 6 135784283 135784283 insertion of <=200bp - T frameshift_variant T286T? READ-US 6 135784283 135784283 insertion of <=200bp - T frameshift_variant T304T? READ-US 6 135787317 135787317 single base substitution C T exon_variant READ-US 6 135787317 135787317 single base substitution C T synonymous_variant K110K 330G>A READ-US 6 135787317 135787317 single base substitution C T synonymous_variant K128K 384G>A RECA-EU 6 135600679 135600679 single base substitution G T downstream_gene_variant RECA-EU 6 135602440 135602440 single base substitution T A downstream_gene_variant RECA-EU 6 135635865 135635865 single base substitution A G downstream_gene_variant RECA-EU 6 135635865 135635865 single base substitution A G intron_variant RECA-EU 6 135651168 135651168 single base substitution T A intron_variant RECA-EU 6 135652246 135652246 single base substitution T C intron_variant RECA-EU 6 135654726 135654726 single base substitution A T intron_variant RECA-EU 6 135656351 135656351 single base substitution C T intron_variant RECA-EU 6 135656352 135656352 single base substitution A T intron_variant RECA-EU 6 135673841 135673841 single base substitution A G intron_variant RECA-EU 6 135673852 135673852 single base substitution C T intron_variant RECA-EU 6 135679987 135679987 single base substitution C T intron_variant RECA-EU 6 135680082 135680082 single base substitution T A intron_variant RECA-EU 6 135680608 135680608 single base substitution A C intron_variant RECA-EU 6 135687015 135687015 single base substitution T A intron_variant RECA-EU 6 135687323 135687323 single base substitution T A intron_variant RECA-EU 6 135722414 135722414 single base substitution T A intron_variant RECA-EU 6 135729361 135729361 single base substitution T C intron_variant RECA-EU 6 135742392 135742392 single base substitution T C intron_variant RECA-EU 6 135742823 135742823 single base substitution G C intron_variant RECA-EU 6 135746607 135746607 single base substitution T C intron_variant RECA-EU 6 135788601 135788601 single base substitution T C intron_variant RECA-EU 6 135791078 135791078 single base substitution T A intron_variant RECA-EU 6 135806708 135806708 single base substitution T A downstream_gene_variant RECA-EU 6 135806708 135806708 single base substitution T A intron_variant RECA-EU 6 135822541 135822541 single base substitution A G upstream_gene_variant SKCA-BR 6 135600044 135600044 single base substitution T A downstream_gene_variant SKCA-BR 6 135601914 135601914 single base substitution G A downstream_gene_variant SKCA-BR 6 135606541 135606541 single base substitution G A 3_prime_UTR_variant SKCA-BR 6 135606541 135606541 single base substitution G A exon_variant SKCA-BR 6 135607508 135607508 single base substitution C T intron_variant SKCA-BR 6 135608386 135608386 single base substitution G A intron_variant SKCA-BR 6 135613247 135613247 insertion of <=200bp - TAC intron_variant SKCA-BR 6 135613473 135613473 single base substitution C T intron_variant SKCA-BR 6 135614552 135614571 deletion of <=200bp AAAAAAAAAAAGAAAAAAAG - intron_variant SKCA-BR 6 135614563 135614563 single base substitution G A intron_variant SKCA-BR 6 135615862 135615862 single base substitution G A intron_variant SKCA-BR 6 135617156 135617156 single base substitution A C intron_variant SKCA-BR 6 135621478 135621479 deletion of <=200bp AG - downstream_gene_variant SKCA-BR 6 135621478 135621479 deletion of <=200bp AG - intron_variant SKCA-BR 6 135622282 135622282 single base substitution T A downstream_gene_variant SKCA-BR 6 135622282 135622282 single base substitution T A intron_variant SKCA-BR 6 135622282 135622282 single base substitution T A upstream_gene_variant SKCA-BR 6 135622298 135622298 single base substitution G A downstream_gene_variant SKCA-BR 6 135622298 135622298 single base substitution G A intron_variant SKCA-BR 6 135622298 135622298 single base substitution G A upstream_gene_variant SKCA-BR 6 135622796 135622796 single base substitution G A downstream_gene_variant SKCA-BR 6 135622796 135622796 single base substitution G A intron_variant SKCA-BR 6 135622796 135622796 single base substitution G A upstream_gene_variant SKCA-BR 6 135623964 135623964 single base substitution G A intron_variant SKCA-BR 6 135623964 135623964 single base substitution G A upstream_gene_variant SKCA-BR 6 135628109 135628109 single base substitution G A intron_variant SKCA-BR 6 135629120 135629120 single base substitution G T intron_variant SKCA-BR 6 135640965 135640965 single base substitution G C intron_variant SKCA-BR 6 135641219 135641219 single base substitution G A intron_variant SKCA-BR 6 135642626 135642626 single base substitution G A intron_variant SKCA-BR 6 135646435 135646435 single base substitution G A intron_variant SKCA-BR 6 135646435 135646435 single base substitution G A upstream_gene_variant SKCA-BR 6 135646579 135646579 single base substitution G A intron_variant SKCA-BR 6 135646579 135646579 single base substitution G A upstream_gene_variant SKCA-BR 6 135650992 135650992 single base substitution G A intron_variant SKCA-BR 6 135653712 135653712 single base substitution G A intron_variant SKCA-BR 6 135655042 135655042 single base substitution G A intron_variant SKCA-BR 6 135655043 135655043 single base substitution G A intron_variant SKCA-BR 6 135658908 135658908 insertion of <=200bp - GA intron_variant SKCA-BR 6 135659769 135659769 single base substitution G A intron_variant SKCA-BR 6 135660717 135660717 single base substitution C T intron_variant SKCA-BR 6 135661351 135661351 single base substitution T A intron_variant SKCA-BR 6 135661778 135661778 single base substitution C T intron_variant SKCA-BR 6 135661784 135661788 deletion of <=200bp TATAC - intron_variant SKCA-BR 6 135664584 135664584 single base substitution G A intron_variant SKCA-BR 6 135670259 135670259 single base substitution A G intron_variant SKCA-BR 6 135672282 135672282 single base substitution C A intron_variant SKCA-BR 6 135673831 135673831 insertion of <=200bp - TTG intron_variant SKCA-BR 6 135677022 135677022 single base substitution G A intron_variant SKCA-BR 6 135678352 135678352 single base substitution G A intron_variant SKCA-BR 6 135684638 135684638 single base substitution T C intron_variant SKCA-BR 6 135684753 135684753 single base substitution G A intron_variant SKCA-BR 6 135684794 135684794 single base substitution G A intron_variant SKCA-BR 6 135684842 135684842 single base substitution G A intron_variant SKCA-BR 6 135685125 135685125 single base substitution G A intron_variant SKCA-BR 6 135692618 135692618 single base substitution G A intron_variant SKCA-BR 6 135695238 135695249 deletion of <=200bp ATATATATATTT - intron_variant SKCA-BR 6 135695240 135695250 deletion of <=200bp ATATATATTTT - intron_variant SKCA-BR 6 135695244 135695244 single base substitution A T intron_variant SKCA-BR 6 135701882 135701883 deletion of <=200bp CA - intron_variant SKCA-BR 6 135704061 135704068 deletion of <=200bp AAAAATAT - downstream_gene_variant SKCA-BR 6 135704061 135704068 deletion of <=200bp AAAAATAT - intron_variant SKCA-BR 6 135704062 135704068 deletion of <=200bp AAAATAT - downstream_gene_variant SKCA-BR 6 135704062 135704068 deletion of <=200bp AAAATAT - intron_variant SKCA-BR 6 135705318 135705318 single base substitution A C downstream_gene_variant SKCA-BR 6 135705318 135705318 single base substitution A C intron_variant SKCA-BR 6 135711301 135711301 single base substitution G T downstream_gene_variant SKCA-BR 6 135711301 135711301 single base substitution G T intron_variant SKCA-BR 6 135712465 135712465 single base substitution G A downstream_gene_variant SKCA-BR 6 135712465 135712465 single base substitution G A intron_variant SKCA-BR 6 135713940 135713940 single base substitution G A downstream_gene_variant SKCA-BR 6 135713940 135713940 single base substitution G A intron_variant SKCA-BR 6 135716286 135716286 single base substitution A G intron_variant SKCA-BR 6 135719196 135719198 deletion of <=200bp GTT - intron_variant SKCA-BR 6 135727486 135727486 single base substitution G A intron_variant SKCA-BR 6 135727818 135727818 single base substitution G A intron_variant SKCA-BR 6 135728981 135729001 deletion of <=200bp TCTACTAAAAATACAAAAAGC - intron_variant SKCA-BR 6 135732084 135732084 single base substitution G A intron_variant SKCA-BR 6 135740593 135740593 single base substitution G A intron_variant SKCA-BR 6 135744549 135744549 single base substitution G A intron_variant SKCA-BR 6 135748200 135748200 single base substitution A G intron_variant SKCA-BR 6 135748742 135748742 single base substitution G A intron_variant SKCA-BR 6 135749780 135749780 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 135749780 135749780 single base substitution C T exon_variant SKCA-BR 6 135749780 135749780 single base substitution C T stop_gained W224* 672G>A SKCA-BR 6 135749780 135749780 single base substitution C T stop_gained W369* 1107G>A SKCA-BR 6 135749780 135749780 single base substitution C T stop_gained W870* 2610G>A SKCA-BR 6 135750059 135750059 single base substitution G A intron_variant SKCA-BR 6 135754897 135754897 single base substitution G A intron_variant SKCA-BR 6 135755787 135755787 single base substitution G A intron_variant SKCA-BR 6 135761362 135761362 single base substitution G C intron_variant SKCA-BR 6 135762696 135762696 single base substitution G C intron_variant SKCA-BR 6 135762698 135762698 single base substitution T A intron_variant SKCA-BR 6 135762701 135762701 single base substitution A G intron_variant SKCA-BR 6 135762706 135762706 single base substitution A G intron_variant SKCA-BR 6 135762794 135762794 single base substitution G A intron_variant SKCA-BR 6 135766065 135766065 single base substitution C T intron_variant SKCA-BR 6 135766065 135766065 single base substitution C T upstream_gene_variant SKCA-BR 6 135766436 135766436 single base substitution T A intron_variant SKCA-BR 6 135766436 135766436 single base substitution T A upstream_gene_variant SKCA-BR 6 135772832 135772832 single base substitution G A intron_variant SKCA-BR 6 135772832 135772832 single base substitution G A upstream_gene_variant SKCA-BR 6 135775691 135775691 single base substitution T C intron_variant SKCA-BR 6 135778246 135778246 single base substitution A C intron_variant SKCA-BR 6 135780675 135780675 single base substitution G A downstream_gene_variant SKCA-BR 6 135780675 135780675 single base substitution G A intron_variant SKCA-BR 6 135785342 135785342 single base substitution G A intron_variant SKCA-BR 6 135796640 135796640 single base substitution G A intron_variant SKCA-BR 6 135802954 135802954 single base substitution C T intron_variant SKCA-BR 6 135804180 135804180 insertion of <=200bp - CCACCA intron_variant SKCA-BR 6 135804928 135804928 single base substitution A C intron_variant SKCA-BR 6 135806211 135806211 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 6 135806211 135806211 insertion of <=200bp - CT intron_variant SKCA-BR 6 135810351 135810351 single base substitution G A downstream_gene_variant SKCA-BR 6 135810351 135810351 single base substitution G A intron_variant SKCA-BR 6 135815409 135815409 single base substitution G A intron_variant SKCA-BR 6 135815409 135815409 single base substitution G A upstream_gene_variant SKCA-BR 6 135816318 135816318 single base substitution C T intron_variant SKCA-BR 6 135816318 135816318 single base substitution C T upstream_gene_variant SKCA-BR 6 135818784 135818784 single base substitution T C 5_prime_UTR_variant SKCA-BR 6 135818784 135818784 single base substitution T C exon_variant SKCA-BR 6 135818784 135818784 single base substitution T C upstream_gene_variant SKCA-BR 6 135819574 135819574 single base substitution G A upstream_gene_variant SKCA-BR 6 135823418 135823418 single base substitution A G upstream_gene_variant SKCM-US 6 135639733 135639733 single base substitution G A 3_prime_UTR_variant SKCM-US 6 135639733 135639733 single base substitution G A exon_variant SKCM-US 6 135639733 135639733 single base substitution G A missense_variant P1117L 3350C>T SKCM-US 6 135639733 135639733 single base substitution G A missense_variant P471L 1412C>T SKCM-US 6 135639733 135639733 single base substitution G A missense_variant P616L 1847C>T SKCM-US 6 135644312 135644312 single base substitution C T exon_variant SKCM-US 6 135644312 135644312 single base substitution C T intron_variant SKCM-US 6 135644312 135644312 single base substitution C T missense_variant V1106M 3316G>A SKCM-US 6 135644312 135644312 single base substitution C T missense_variant V460M 1378G>A SKCM-US 6 135644312 135644312 single base substitution C T missense_variant V605M 1813G>A SKCM-US 6 135726089 135726089 single base substitution T C splice_region_variant SKCM-US 6 135787209 135787209 single base substitution G C exon_variant SKCM-US 6 135787209 135787209 single base substitution G C synonymous_variant G146G 438C>G SKCM-US 6 135787209 135787209 single base substitution G C synonymous_variant G164G 492C>G SKCM-US 6 135787487 135787487 single base substitution G A exon_variant SKCM-US 6 135787487 135787487 single base substitution G A missense_variant P54S 160C>T SKCM-US 6 135787487 135787487 single base substitution G A missense_variant P72S 214C>T STAD-US 6 135639703 135639703 single base substitution C A 3_prime_UTR_variant STAD-US 6 135639703 135639703 single base substitution C A exon_variant STAD-US 6 135639703 135639703 single base substitution C A missense_variant S1127I 3380G>T STAD-US 6 135639703 135639703 single base substitution C A missense_variant S481I 1442G>T STAD-US 6 135639703 135639703 single base substitution C A missense_variant S626I 1877G>T STAD-US 6 135751062 135751062 single base substitution A T 3_prime_UTR_variant STAD-US 6 135751062 135751062 single base substitution A T exon_variant STAD-US 6 135751062 135751062 single base substitution A T missense_variant I171N 512T>A STAD-US 6 135751062 135751062 single base substitution A T missense_variant I316N 947T>A STAD-US 6 135751062 135751062 single base substitution A T missense_variant I817N 2450T>A STAD-US 6 135752450 135752450 single base substitution G T missense_variant H111N 331C>A STAD-US 6 135752450 135752450 single base substitution G T missense_variant H256N 766C>A STAD-US 6 135752450 135752450 single base substitution G T missense_variant H757N 2269C>A STAD-US 6 135752450 135752450 single base substitution G T splice_region_variant STAD-US 6 135778714 135778714 single base substitution A G exon_variant STAD-US 6 135778714 135778714 single base substitution A G missense_variant S357P 1069T>C STAD-US 6 135784284 135784284 insertion of <=200bp - T exon_variant STAD-US 6 135784284 135784284 insertion of <=200bp - T frameshift_variant T286N? STAD-US 6 135784284 135784284 insertion of <=200bp - T frameshift_variant T304N? STAD-US 6 135784284 135784284 insertion of <=200bp - TT exon_variant STAD-US 6 135784284 135784284 insertion of <=200bp - TT frameshift_variant T286K? STAD-US 6 135784284 135784284 insertion of <=200bp - TT frameshift_variant T304K? STAD-US 6 135784438 135784438 single base substitution C T exon_variant STAD-US 6 135784438 135784438 single base substitution C T synonymous_variant L234L 702G>A STAD-US 6 135784438 135784438 single base substitution C T synonymous_variant L252L 756G>A STAD-US 6 135787084 135787084 single base substitution C A exon_variant STAD-US 6 135787084 135787084 single base substitution C A missense_variant R188M 563G>T STAD-US 6 135787084 135787084 single base substitution C A missense_variant R206M 617G>T STAD-US 6 135811814 135811814 single base substitution G A downstream_gene_variant STAD-US 6 135811814 135811814 single base substitution G A exon_variant STAD-US 6 135811814 135811814 single base substitution G A missense_variant R28C 82C>T STAD-US 6 135811862 135811862 insertion of <=200bp - T downstream_gene_variant STAD-US 6 135811862 135811862 insertion of <=200bp - T exon_variant STAD-US 6 135811862 135811862 insertion of <=200bp - T frameshift_variant T12N? UCEC-US 6 135621673 135621673 single base substitution G A 3_prime_UTR_variant UCEC-US 6 135621673 135621673 single base substitution G A downstream_gene_variant UCEC-US 6 135621673 135621673 single base substitution G A exon_variant UCEC-US 6 135621673 135621673 single base substitution G A synonymous_variant S1150S 3450C>T UCEC-US 6 135621673 135621673 single base substitution G A synonymous_variant S649S 1947C>T UCEC-US 6 135621673 135621673 single base substitution G A upstream_gene_variant UCEC-US 6 135639675 135639675 single base substitution T A 3_prime_UTR_variant UCEC-US 6 135639675 135639675 single base substitution T A exon_variant UCEC-US 6 135639675 135639675 single base substitution T A missense_variant K1136N 3408A>T UCEC-US 6 135639675 135639675 single base substitution T A missense_variant K490N 1470A>T UCEC-US 6 135639675 135639675 single base substitution T A missense_variant K635N 1905A>T UCEC-US 6 135644407 135644407 single base substitution C T exon_variant UCEC-US 6 135644407 135644407 single base substitution C T intron_variant UCEC-US 6 135644407 135644407 single base substitution C T missense_variant R1074H 3221G>A UCEC-US 6 135644407 135644407 single base substitution C T missense_variant R428H 1283G>A UCEC-US 6 135644407 135644407 single base substitution C T missense_variant R573H 1718G>A UCEC-US 6 135749884 135749884 single base substitution T A 3_prime_UTR_variant UCEC-US 6 135749884 135749884 single base substitution T A exon_variant UCEC-US 6 135749884 135749884 single base substitution T A stop_gained K190* 568A>T UCEC-US 6 135749884 135749884 single base substitution T A stop_gained K335* 1003A>T UCEC-US 6 135749884 135749884 single base substitution T A stop_gained K836* 2506A>T UCEC-US 6 135751034 135751034 single base substitution A C 3_prime_UTR_variant UCEC-US 6 135751034 135751034 single base substitution A C exon_variant UCEC-US 6 135751034 135751034 single base substitution A C missense_variant I180M 540T>G UCEC-US 6 135751034 135751034 single base substitution A C missense_variant I325M 975T>G UCEC-US 6 135751034 135751034 single base substitution A C missense_variant I826M 2478T>G UCEC-US 6 135768164 135768164 single base substitution C T exon_variant UCEC-US 6 135768164 135768164 single base substitution C T stop_gained W587* 1761G>A UCEC-US 6 135768164 135768164 single base substitution C T stop_gained W86* 258G>A UCEC-US 6 135768164 135768164 single base substitution C T upstream_gene_variant UCEC-US 6 135776878 135776878 single base substitution G T exon_variant UCEC-US 6 135776878 135776878 single base substitution G T missense_variant F446L 1338C>A UCEC-US 6 135777059 135777059 single base substitution C A exon_variant UCEC-US 6 135777059 135777059 single base substitution C A missense_variant R386L 1157G>T UCEC-US 6 135787133 135787133 single base substitution G A exon_variant UCEC-US 6 135787133 135787133 single base substitution G A stop_gained Q172* 514C>T UCEC-US 6 135787133 135787133 single base substitution G A stop_gained Q190* 568C>T UCEC-US 6 135787210 135787210 single base substitution C T exon_variant UCEC-US 6 135787210 135787210 single base substitution C T missense_variant G146D 437G>A UCEC-US 6 135787210 135787210 single base substitution C T missense_variant G164D 491G>A UCEC-US 6 135787246 135787246 single base substitution G T exon_variant UCEC-US 6 135787246 135787246 single base substitution G T missense_variant S134Y 401C>A UCEC-US 6 135787246 135787246 single base substitution G T missense_variant S152Y 455C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AD-6889-01 COSM1440639 c.352G>T p.E118* Substitution - Nonsense 6:135466211-135466211 - TCGA-HT-7687-01 COSM3928102 c.309C>T p.N103N Substitution - coding silent 6:135466254-135466254 - TCGA-BR-6452-01 COSM3858478 c.2450T>A p.I817N Substitution - Missense 6:135429924-135429924 - UM-SCC-17B COSM4603487 c.911_912insA p.K307fs*3 Insertion - Frameshift 6:135463144-135463145 - TCGA-G5-6641-01 COSM1568064 c.384G>A p.K128K Substitution - coding silent 6:135466179-135466179 - ESO-139 COSM1244671 c.429G>A p.P143P Substitution - coding silent 6:135466134-135466134 - CSCC-18-T COSM4531823 c.1829G>A p.R610Q Substitution - Missense 6:135442665-135442665 - Gp5D COSM1440636 c.910_911insA p.T304fs*6 Insertion - Frameshift 6:135463145-135463146 - SJHYPER227_D COSM4994403 c.1083T>A p.I361I Substitution - coding silent 6:135457562-135457562 - 065T COSM1730348 c.3427-2A>T p.? Unknown 6:135300560-135300560 - ME018T COSM225245 c.1771C>T p.P591S Substitution - Missense 6:135447016-135447016 - TCGA-G4-6320-01 COSM1440636 c.910_911insA p.T304fs*6 Insertion - Frameshift 6:135463145-135463146 - SJDES006 COSM4586244 c.2107G>A p.A703T Substitution - Missense 6:135433186-135433186 - TCGA-D1-A17T-01 COSM1073631 c.462C>A p.H154Q Substitution - Missense 6:135466101-135466101 - TCGA-CW-6087-01 COSM483440 c.881A>G p.Q294R Substitution - Missense 6:135463175-135463175 - 2492701 COSM5599040 c.2558C>T p.P853L Substitution - Missense 6:135428694-135428694 - TCGA-AN-A0AK-01 COSM3829118 c.1303C>T p.R435* Substitution - Nonsense 6:135455775-135455775 - 61 COSM5737780 c.1775G>A p.G592E Substitution - Missense 6:135447012-135447012 - HCT15 COSM3174646 c.3235C>T p.R1079* Substitution - Nonsense 6:135323255-135323255 - 13T COSM3715408 c.2313G>C p.W771C Substitution - Missense 6:135431268-135431268 - TCGA-EI-6507-01 COSM1440636 c.910_911insA p.T304fs*6 Insertion - Frameshift 6:135463145-135463146 - TCGA-G4-6297-01 COSM1440637 c.910delA p.T304fs*23 Deletion - Frameshift 6:135463146-135463146 - NCI-H835 COSM3174733 c.563T>G p.L188W Substitution - Missense 6:135466000-135466000 - Pat_76_B COSM5869365 c.2159C>T p.S720F Substitution - Missense 6:135433134-135433134 - TCGA-AP-A0LM-01 COSM1073632 c.455C>A p.S152Y Substitution - Missense 6:135466108-135466108 - TCGA-G9-6342-01 COSM3674559 c.3110G>T p.G1037V Substitution - Missense 6:135358187-135358187 - S02375 COSM5696644 c.99G>A p.L33L Substitution - coding silent 6:135490659-135490659 - TCGA-D1-A16X-01 COSM1073623 c.2478T>G p.I826M Substitution - Missense 6:135429896-135429896 - OSCC-GB_00130111 COSM3715408 c.2313G>C p.W771C Substitution - Missense 6:135431268-135431268 - TCGA-G2-A2EO-01 COSM1311586 c.3151G>C p.D1051H Substitution - Missense 6:135358146-135358146 - SNUH_G16_S1 COSM4003692 c.3257A>G p.E1086G Substitution - Missense 6:135323233-135323233 - HCC168T COSM3662153 c.2380A>T p.K794* Substitution - Nonsense 6:135429994-135429994 - TCGA-AP-A059-01 COSM1073621 c.3221G>A p.R1074H Substitution - Missense 6:135323269-135323269 - TCGA-66-2759-01 COSM739995 c.1460A>G p.N487S Substitution - Missense 6:135448456-135448456 - BD13T COSM5504963 c.1846G>A p.D616N Substitution - Missense 6:135442648-135442648 - TCGA-EE-A2MM-06 COSM3620893 c.3350C>T p.P1117L Substitution - Missense 6:135318595-135318595 - TCGA-D8-A1J8-01 COSM3829120 c.974A>G p.E325G Substitution - Missense 6:135457671-135457671 - TCGA-AG-A002-01 COSM259358 c.1103T>G p.I368S Substitution - Missense 6:135457542-135457542 - TCGA-AL-3472-01 COSM3994609 c.2906C>G p.T969S Substitution - Missense 6:135411403-135411403 - TCGA-A2-A3Y0-01 COSM3829114 c.3565G>C p.G1189R Substitution - Missense 6:135290446-135290446 - CHC884T COSM4958407 c.75T>C p.D25D Substitution - coding silent 6:135490683-135490683 - TCGA-AC-A23H-01 COSM3829116 c.1723G>A p.E575K Substitution - Missense 6:135447064-135447064 - T3724 COSM4660497 c.3394delA p.T1132fs*3 Deletion - Frameshift 6:135318551-135318551 - TCGA-AA-3811-01 COSM5109785 c.1517G>A p.R506Q Substitution - Missense 6:135448399-135448399 - BD72T COSM5512316 c.2545A>G p.S849G Substitution - Missense 6:135428707-135428707 - BK0015 COSM4185876 c.2185A>C p.M729L Substitution - Missense 6:135433108-135433108 - TCGA-D1-A17U-01 COSM1073624 c.2295A>G p.T765T Substitution - coding silent 6:135431286-135431286 - 23T COSM3715411 c.11-1G>T p.? Unknown 6:135490748-135490748 - TCGA-AZ-6598-01 COSM1440636 c.910_911insA p.T304fs*6 Insertion - Frameshift 6:135463145-135463146 - TCGA-D5-6540-01 COSM1440636 c.910_911insA p.T304fs*6 Insertion - Frameshift 6:135463145-135463146 - TCGA-AP-A0LE-01 COSM1073622 c.2506A>T p.K836* Substitution - Nonsense 6:135428746-135428746 - C004 COSM5521518 c.695G>A p.S232N Substitution - Missense 6:135465868-135465868 - TCGA-EK-A2RC-01 COSM4848574 c.2472G>C p.L824F Substitution - Missense 6:135429902-135429902 - 66 COSM1440636 c.910_911insA p.T304fs*6 Insertion - Frameshift 6:135463145-135463146 - CSCC-11-T COSM594556 c.3514G>A p.E1172K Substitution - Missense 6:135290497-135290497 - CSCC-32-T COSM4463440 c.1291C>T p.P431S Substitution - Missense 6:135455787-135455787 - TCGA-D8-A1JA-01 COSM1545305 c.303G>C p.L101F Substitution - Missense 6:135466260-135466260 - TCGA-EE-A29D-06 COSM3620900 c.214C>T p.P72S Substitution - Missense 6:135466349-135466349 - D28 COSM5544452 c.2451C>T p.I817I Substitution - coding silent 6:135429923-135429923 - HCA7 COSM3858487 c.82C>T p.R28C Substitution - Missense 6:135490676-135490676 - TCGA-A4-7584-01 COSM483440 c.881A>G p.Q294R Substitution - Missense 6:135463175-135463175 - EGC15 COSM5061428 c.3364C>T p.R1122* Substitution - Nonsense 6:135318581-135318581 - SNU-175 COSM1440636 c.910_911insA p.T304fs*6 Insertion - Frameshift 6:135463145-135463146 - 274T COSM1727432 c.606G>T p.K202N Substitution - Missense 6:135465957-135465957 - TCGA-CZ-4857-01 COSM3366303 c.3303T>G p.F1101L Substitution - Missense 6:135323187-135323187 - TCGA-G4-6628-01 COSM5180488 c.526G>T p.G176* Substitution - Nonsense 6:135466037-135466037 - TCGA-IZ-8195-01 COSM3994607 c.3205G>T p.E1069* Substitution - Nonsense 6:135323285-135323285 - TCGA-HU-A4GX-01 COSM3858476 c.3380G>T p.S1127I Substitution - Missense 6:135318565-135318565 - TCGA-F5-6814-01 COSM3430034 c.1968C>A p.I656I Substitution - coding silent 6:135438443-135438443 - PTC-7C COSM3858487 c.82C>T p.R28C Substitution - Missense 6:135490676-135490676 - TCGA-BG-A18B-01 COSM1073633 c.254C>T p.A85V Substitution - Missense 6:135466309-135466309 - TCGA-AN-A0XU-01 COSM450565 c.231T>A p.T77T Substitution - coding silent 6:135466332-135466332 - 587284 COSM1182268 c.2856T>A p.C952* Substitution - Nonsense 6:135411453-135411453 - T3090 COSM1440636 c.910_911insA p.T304fs*6 Insertion - Frameshift 6:135463145-135463146 - PC-9BRc1 COSM1685024 c.3191C>T p.A1064V Substitution - Missense 6:135323299-135323299 - CSCC-31-T COSM4484816 c.2857C>T p.P953S Substitution - Missense 6:135411452-135411452 - C008 COSM3174747 c.217C>T p.H73Y Substitution - Missense 6:135466346-135466346 - LUAD-E01278 COSM394314 c.1480C>G p.L494V Substitution - Missense 6:135448436-135448436 - TCGA-BR-6452-01 COSM3858482 c.1069T>C p.S357P Substitution - Missense 6:135457576-135457576 - CHC1743T COSM4805686 c.1008A>G p.K336K Substitution - coding silent 6:135457637-135457637 - TCGA-AA-3492-01 COSM1440638 c.751A>G p.T251A Substitution - Missense 6:135463305-135463305 - YUNEXUS COSM5404431 c.288C>T p.V96V Substitution - coding silent 6:135466275-135466275 - TCGA-D1-A101-01 COSM1073625 c.1775G>T p.G592V Substitution - Missense 6:135447012-135447012 - TCGA-BT-A3PK-01 COSM3777132 c.272A>G p.K91R Substitution - Missense 6:135466291-135466291 - TCGA-B5-A0JY-01 COSM1073620 c.3408A>T p.K1136N Substitution - Missense 6:135318537-135318537 - TCGA-AN-A0XN-01 COSM450564 c.1231A>G p.K411E Substitution - Missense 6:135455847-135455847 - sysucc-707T COSM5460142 c.1212G>T p.M404I Substitution - Missense 6:135455866-135455866 - OSCC-GB_00410111 COSM739996 c.1583C>T p.S528L Substitution - Missense 6:135448333-135448333 - 432 COSM4433590 c.821C>T p.S274L Substitution - Missense 6:135463235-135463235 - HA7-RCC COSM25173 c.2548A>G p.T850A Substitution - Missense 6:135428704-135428704 - CHC884T COSM4958407 c.75T>C p.D25D Substitution - coding silent 6:135490683-135490683 - 8030245 COSM1159323 c.2384A>T p.E795V Substitution - Missense 6:135429990-135429990 - S02277 COSM5683296 c.57G>A p.L19L Substitution - coding silent 6:135490701-135490701 - RMS88_ COSM4988782 c.3332T>C p.L1111P Substitution - Missense 6:135318613-135318613 - 35M COSM5580172 c.1402G>A p.E468K Substitution - Missense 6:135453379-135453379 - 2492700 COSM5599040 c.2558C>T p.P853L Substitution - Missense 6:135428694-135428694 - PD23578a COSM3174686 c.2213G>A p.R738Q Substitution - Missense 6:135433080-135433080 - TCGA-CG-5733-01 COSM3858485 c.617G>T p.R206M Substitution - Missense 6:135465946-135465946 - 272 COSM145078 c.3100A>G p.T1034A Substitution - Missense 6:135394785-135394785 - PD24191a COSM594549 c.988G>T p.D330Y Substitution - Missense 6:135457657-135457657 - RMS85_ COSM4988782 c.3332T>C p.L1111P Substitution - Missense 6:135318613-135318613 - 2521259 COSM5890157 c.1978C>T p.L660F Substitution - Missense 6:135438433-135438433 - TCGA-B5-A11R-01 COSM1073626 c.1761G>A p.W587* Substitution - Nonsense 6:135447026-135447026 - TCGA-AY-6197-01 COSM1440635 c.911C>A p.T304K Substitution - Missense 6:135463145-135463145 - Au2 COSM5599040 c.2558C>T p.P853L Substitution - Missense 6:135428694-135428694 - 2492702 COSM5599040 c.2558C>T p.P853L Substitution - Missense 6:135428694-135428694 - 38 COSM5733668 c.2204T>G p.I735R Substitution - Missense 6:135433089-135433089 - TCGA-60-2698-01 COSM739996 c.1583C>T p.S528L Substitution - Missense 6:135448333-135448333 - T14 COSM5345033 c.2201C>T p.A734V Substitution - Missense 6:135433092-135433092 - TCGA-AD-6889-01 COSM1440636 c.910_911insA p.T304fs*6 Insertion - Frameshift 6:135463145-135463146 - Gp2D COSM1440636 c.910_911insA p.T304fs*6 Insertion - Frameshift 6:135463145-135463146 - TCGA-G4-6588-01 COSM1440636 c.910_911insA p.T304fs*6 Insertion - Frameshift 6:135463145-135463146 - TCGA-AG-A002-01 COSM259359 c.95A>C p.K32T Substitution - Missense 6:135490663-135490663 - MO_1012 COSM5568672 c.1890C>T p.S630S Substitution - coding silent 6:135442604-135442604 - TCGA-FC-A4JI-01 COSM4393390 c.492C>T p.G164G Substitution - coding silent 6:135466071-135466071 - 113T COSM1725331 c.2042G>T p.W681L Substitution - Missense 6:135433251-135433251 - BD150T COSM5500941 c.1324A>G p.K442E Substitution - Missense 6:135455754-135455754 - 41T COSM739996 c.1583C>T p.S528L Substitution - Missense 6:135448333-135448333 - ESCC-129T COSM3941522 c.428C>T p.P143L Substitution - Missense 6:135466135-135466135 - TCGA-AA-3976-01 COSM297498 c.1857C>T p.H619H Substitution - coding silent 6:135442637-135442637 - TCGA-GN-A265-06 COSM3620896 c.2988A>G p.K996K Substitution - coding silent 6:135404951-135404951 - PT29 COSM5906509 c.2962-7C>T p.? Unknown 6:135404984-135404984 - TCGA-IN-7806-01 COSM739994 c.756G>A p.L252L Substitution - coding silent 6:135463300-135463300 - HX32T COSM3662155 c.1676A>G p.K559R Substitution - Missense 6:135447111-135447111 - C391 COSM4441807 c.1694G>A p.R565H Substitution - Missense 6:135447093-135447093 - EOPC-01_tumor COSM3716639 c.2106G>A p.T702T Substitution - coding silent 6:135433187-135433187 - 35M COSM5580174 c.812C>T p.S271L Substitution - Missense 6:135463244-135463244 - TCGA-F5-6814-01 COSM3430036 c.1015C>T p.L339F Substitution - Missense 6:135457630-135457630 - TCGA-EJ-7330-01 COSM1471916 c.537G>T p.E179D Substitution - Missense 6:135466026-135466026 - DLD1 COSM3174646 c.3235C>T p.R1079* Substitution - Nonsense 6:135323255-135323255 - ESO-157 COSM1244672 c.3287G>A p.G1096E Substitution - Missense 6:135323203-135323203 - 2290929 COSM4440069 c.996G>A p.P332P Substitution - coding silent 6:135457649-135457649 - 2492729 COSM5727679 c.1447G>A p.G483R Substitution - Missense 6:135448469-135448469 - TCGA-AP-A051-01 COSM1073628 c.1157G>T p.R386L Substitution - Missense 6:135455921-135455921 - TCGA-GF-A4EO-06 COSM3620894 c.3316G>A p.V1106M Substitution - Missense 6:135323174-135323174 - 3N37-VS-3T37 COSM4981274 c.2373+1G>T p.? Unknown 6:135431207-135431207 - TCGA-AG-3892-01 COSM256273 c.3135T>G p.P1045P Substitution - coding silent 6:135358162-135358162 - YUFIT COSM5404425 c.2268T>C p.G756G Substitution - coding silent 6:135431313-135431313 - ESO-2536 COSM1244673 c.2966T>C p.V989A Substitution - Missense 6:135404973-135404973 - RK165_C01 COSM1634516 c.1118A>G p.E373G Substitution - Missense 6:135457527-135457527 - TCGA-AG-A002-01 COSM259357 c.3476C>A p.S1159Y Substitution - Missense 6:135300509-135300509 - TCGA-E2-A1L7-01 COSM1487254 c.415C>T p.Q139* Substitution - Nonsense 6:135466148-135466148 - TCGA-JW-A5VL-01 COSM4847397 c.1440G>C p.K480N Substitution - Missense 6:135448476-135448476 - TCGA-B8-5552-01 COSM483441 c.347G>A p.S116N Substitution - Missense 6:135466216-135466216 - 392 COSM3720756 c.592G>C p.E198Q Substitution - Missense 6:135465971-135465971 - TCGA-BR-8680-01 COSM3858480 c.2269C>A p.H757N Substitution - Missense 6:135431312-135431312 - PD8615a COSM5789236 c.2221G>C p.D741H Substitution - Missense 6:135433072-135433072 - TCGA-HU-A4H8-01 COSM3858487 c.82C>T p.R28C Substitution - Missense 6:135490676-135490676 - TCGA-LG-A6GG-01 COSM4939489 c.3102T>G p.T1034T Substitution - coding silent 6:135394783-135394783 - 2492703 COSM5599040 c.2558C>T p.P853L Substitution - Missense 6:135428694-135428694 - Pat_76_A COSM5869365 c.2159C>T p.S720F Substitution - Missense 6:135433134-135433134 - CHC2099T COSM4793283 c.2638A>G p.M880V Substitution - Missense 6:135427293-135427293 - CSCC-44-T COSM3829118 c.1303C>T p.R435* Substitution - Nonsense 6:135455775-135455775 - YUGURT COSM5404429 c.1924C>T p.P642S Substitution - Missense 6:135438487-135438487 - TCGA-D8-A1JB-01 COSM1487253 c.2440C>T p.R814C Substitution - Missense 6:135429934-135429934 - TCGA-24-0975-01 COSM69581 c.212T>C p.L71P Substitution - Missense 6:135466351-135466351 - TCGA-AY-6197-01 COSM1440636 c.910_911insA p.T304fs*6 Insertion - Frameshift 6:135463145-135463146 - TCGA-AP-A051-01 COSM1073630 c.491G>A p.G164D Substitution - Missense 6:135466072-135466072 - T3658 COSM4660498 c.3272G>A p.G1091D Substitution - Missense 6:135323218-135323218 - YUOMEGA COSM5404429 c.1924C>T p.P642S Substitution - Missense 6:135438487-135438487 - BD49T COSM5497856 c.1152-7delT p.? Unknown 6:135455933-135455933 - ESCC-162T COSM3941524 c.49G>C p.E17Q Substitution - Missense 6:135490709-135490709 - YUMOBER COSM5404427 c.1938C>T p.F646F Substitution - coding silent 6:135438473-135438473 - 1517_PT COSM5756764 c.2419G>A p.E807K Substitution - Missense 6:135429955-135429955 - S00016 COSM4386865 c.2267G>T p.G756V Substitution - Missense 6:135431314-135431314 - TCGA-D1-A17Q-01 COSM1073627 c.1338C>A p.F446L Substitution - Missense 6:135455740-135455740 - TCGA-D5-6530-01 COSM1440637 c.910delA p.T304fs*23 Deletion - Frameshift 6:135463146-135463146 - TCGA-IR-A3LC-01 COSM4832208 c.535G>C p.E179Q Substitution - Missense 6:135466028-135466028 - C004 COSM5521516 c.696T>G p.S232R Substitution - Missense 6:135465867-135465867 - TCGA-39-5036-01 COSM739998 c.3531A>G p.I1177M Substitution - Missense 6:135290480-135290480 - HCC168 COSM3662153 c.2380A>T p.K794* Substitution - Nonsense 6:135429994-135429994 - STC232 COSM5061430 c.1787G>A p.R596H Substitution - Missense 6:135442707-135442707 - OSCC-GB_00230111 COSM3715411 c.11-1G>T p.? Unknown 6:135490748-135490748 - TCGA-56-1622-01 COSM739993 c.44G>C p.R15P Substitution - Missense 6:135490714-135490714 - L12 COSM5369015 c.707A>C p.K236T Substitution - Missense 6:135465856-135465856 - ESCC_25 COSM5626933 c.1496A>G p.Y499C Substitution - Missense 6:135448420-135448420 - 392 COSM3720758 c.530G>C p.R177T Substitution - Missense 6:135466033-135466033 - 1517_CLM COSM5756764 c.2419G>A p.E807K Substitution - Missense 6:135429955-135429955 - 28 COSM4777759 c.902_903insA p.T304fs*6 Insertion - Frameshift 6:135463153-135463154 - PD24216a COSM5777896 c.1546G>T p.E516* Substitution - Nonsense 6:135448370-135448370 - TCGA-DM-A1D8-01 COSM5167564 c.1034T>G p.L345W Substitution - Missense 6:135457611-135457611 - TCGA-D1-A103-01 COSM1073619 c.3450C>T p.S1150S Substitution - coding silent 6:135300535-135300535 - HCC030T COSM5816005 c.3467G>C p.G1156A Substitution - Missense 6:135300518-135300518 - TCGA-AP-A059-01 COSM1073629 c.568C>T p.Q190* Substitution - Nonsense 6:135465995-135465995 - 272-01-2TD COSM145078 c.3100A>G p.T1034A Substitution - Missense 6:135394785-135394785 - 61 COSM5737778 c.1831G>T p.G611* Substitution - Nonsense 6:135442663-135442663 - PD4225a COSM5802200 c.909_910insA p.T304fs*6 Insertion - Frameshift 6:135463146-135463147 - TCGA-CK-4951-01 COSM5152485 c.1955G>A p.G652D Substitution - Missense 6:135438456-135438456 - TCGA-18-3411-01 COSM739994 c.756G>A p.L252L Substitution - coding silent 6:135463300-135463300 - ICGC_0056 COSM1159323 c.2384A>T p.E795V Substitution - Missense 6:135429990-135429990 - 218 COSM4424922 c.493G>A p.V165I Substitution - Missense 6:135466070-135466070 - 520 COSM5612087 c.3142C>A p.H1048N Substitution - Missense 6:135358155-135358155 - CHC1743T COSM4805686 c.1008A>G p.K336K Substitution - coding silent 6:135457637-135457637 - ESCC_BICR_051T COSM5444081 c.2587G>A p.E863K Substitution - Missense 6:135428665-135428665 - CHC2099T COSM4793283 c.2638A>G p.M880V Substitution - Missense 6:135427293-135427293 - Br27P COSM40804 c.1522C>T p.P508S Substitution - Missense 6:135448394-135448394 - TCGA-EE-A182-06 COSM3620898 c.492C>G p.G164G Substitution - coding silent 6:135466071-135466071 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.386597;Hs.386618;Hs.386630;Hs.386684 6q23.3 608894

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F1101L c.3303T>G 6 135644325 RCCC A G Missense p.I361T c.1082T>C 6 135778701 HNSC A G Missense p.L71P c.212T>C 6 135787489 OV A G Missense p.V989A c.2966T>C 6 135726111 ESCA A T Synonymous p.T77T c.231T>A 6 135787470 BRCA C A Missense p.D330Y c.988G>T 6 135778795 LUAD C A Missense p.E179D c.537G>T 6 135787164 PRAD C A Missense p.R206M c.617G>T 6 135787084 STAD C A Nonsense p.E144* c.430G>T 6 135787271 HNSC C A Synonymous p.T132T c.396G>T 6 135787305 LUAD C - Frameshift p.G652Afs*34 c.1955delG 6 135759594 LUSC C G Missense p.D1051H c.3151G>C 6 135679284 BLCA C G Missense p.R15P c.44G>C 6 135811852 LUSC C G Missense p.R523T c.1568G>C 6 135769486 HNSC C G SpliceDonorSNV . c.3109+1G>C 6 135715913 THCA C T Missense p.E1172K c.3514G>A 6 135611635 LUAD C T Missense p.E911K c.2731G>A 6 135748338 MM C T Missense p.G1096E c.3287G>A 6 135644341 ESCA C T Missense p.M293I c.879G>A 6 135784315 CM C T Missense p.P508S c.1522C>T 6 135769532 GBM C T Nonsense p.W587* c.1761G>A 6 135768164 UCEC C T Synonymous p.L252L c.756G>A 6 135784438 LUSC G A Missense p.P1117L c.3350C>T 6 135639733 CM G A Missense p.P591S c.1771C>T 6 135768154 CM G A Missense p.R814C c.2440C>T 6 135751072 BRCA G A Nonsense p.Q139* c.415C>T 6 135787286 BRCA G A Synonymous p.G164G c.492C>T 6 135787209 PRAD G A Synonymous p.H619H c.1857C>T 6 135763775 COREAD G A Synonymous p.N103N c.309C>T 6 135787392 LGG G C Missense p.H601Q c.1803C>G 6 135763829 LUAD G C Synonymous p.G164G c.492C>G 6 135787209 CM G T Missense p.T1055K c.3164C>A 6 135679271 HNSC T A Missense p.E795V c.2384A>T 6 135751128 PAAD T A Nonsense p.K836* c.2506A>T 6 135749884 UCEC T C Missense p.I1177M c.3531A>G 6 135611618 LUSC T C Missense p.K411E c.1231A>G 6 135776985 BRCA T C Missense p.K57R c.170A>G 6 135788738 HNSC T C Missense p.K91R c.272A>G 6 135787429 BLCA T C Missense p.N487S c.1460A>G 6 135769594 LUSC T C Missense p.Q294R c.881A>G 6 135784313 CM T C Missense p.T1034A c.3100A>G 6 135715923 CLL T C Synonymous p.E876E c.2628A>G 6 135748441 GBM T C Synonymous p.K996K c.2988A>G 6 135726089 CM - T Frameshift p.T304Nfs*6 c.910dupA 6 135784284 STAD T G Missense p.Q1113P c.3338A>C 6 135639745 HNSC