Sample Barcode 1 Barcode 2 Variant type/consequence Symbol (Gene ID) cDNA effect Protein effect Codons Chromosome Position Ref Alt IGV links Confidence Allele fraction 1 Allele fraction 2 Depth 1 Depth 2 Filter 1 Filter 2 Quality 1 Quality 2 Amplicon PubMed Gene Exon Intron Existing variation SIFT PolyPhen Clinical significance GMAF Offset from primer end Sample type Indel length 5' context Alleles 3' context CMDL150423 FLD0241 FLD0265 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.551 0.457 1859 1881 pass pass 20398 20425 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150423 FLD0241 FLD0265 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.996 0.997 1730 1617 pass pass 49189 45748 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150423 FLD0241 FLD0265 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.997 0.997 1264 1066 pass pass 35462 28209 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150423 FLD0241 FLD0265 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") high 0.495 0.464 2141 1883 pass pass 21163 16919 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 FFPE TCTTG C/A ACTAT CMDL150423 FLD0241 FLD0265 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.489 0.454 1987 1893 pass pass 18729 15803 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150423 FLD0241 FLD0265 intron PIK3CA c.1747-13T>C chr3 178937346 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178937346", "IGV") high 0.288 0.290 1787 2007 pass pass 7073 8478 PIK3CA_31 ENSG00000121879 11 of 20 rs41273619 C:0.0313 43 FFPE TGTCT T/C TCTCA CMDL150423 FLD0241 FLD0265 intron PIK3CA c.352+40A>G chr3 178917005 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178917005", "IGV") high 0.375 0.595 1071 966 pass pass 6366 12031 PIK3CA_5 ENSG00000121879 2 of 20 rs3729674 G:0.2734 3 FFPE ACCAT A/G AAGCT CMDL150423 FLD0241 FLD0265 nonsynonymous TP53 c.733G>A p.G245S Ggc/Agc chr17 7577548 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577548", "IGV") high 0.631 0.623 1185 1161 pass pass 16296 15499 TP53_14 25032700, 25105660, 24853176 ENSG00000141510 7 of 11 CM010463, CM920674, rs28934575, CM900210, TP53_g.13370G>T, TP53_g.13370G>C, TP53_g.13370del, TP53_g.13370G>A, COSM6932, COSM11081, COSM10957, COSM44642, COSM121035, COSM562651, COSM1610835, COSM121036, COSM562652, COSM1610836, COSM3356965, COSM3388190, COSM3717640, COSM3717639, COSM1640833, COSM1646855, COSM121037, COSM562653, COSM1610837 deleterious(0) probably_damaging(1) likely_pathogenic,pathogenic 40 FFPE CATGC C/T GCCCA CMDL150423 FLD0241 FLD0265 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.950 0.925 1096 1097 pass pass 28100 25650 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150423 FLD0241 FLD0265 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 0.871 0.780 805 696 pass pass 16963 12781 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150424 FLD0242 FLD0266 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.998 0.999 2351 2259 pass pass 75176 71757 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150424 FLD0242 FLD0266 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.998 0.998 1965 1823 pass pass 57528 53656 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150424 FLD0242 FLD0266 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.997 0.998 1318 1269 pass pass 37929 36116 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150424 FLD0242 FLD0266 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") high 0.714 0.488 2219 2016 pass pass 37438 18176 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 FFPE TCTTG C/A ACTAT CMDL150424 FLD0242 FLD0266 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.575 0.467 2089 1926 pass pass 24687 16893 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150424 FLD0242 FLD0266 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.662 0.676 1292 1215 pass pass 19438 18358 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150424 FLD0242 FLD0266 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 0.307 0.432 937 976 pass pass 5181 8009 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150425 FLD0243 FLD0267 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.999 0.995 2234 1980 pass pass 71304 63588 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150425 FLD0243 FLD0267 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.999 0.999 1623 1819 pass pass 48116 54766 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150425 FLD0243 FLD0267 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.991 0.998 1141 1159 pass pass 33254 32390 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150425 FLD0243 FLD0267 splice_acceptor TP53 c.1101-2A>C chr17 7573010 T G =hyperlink("http://localhost:60151/goto?locus=chr17:7573010", "IGV") low 0.161 2014 no call QD 893 TP53_2 ENSG00000141510 10 of 10 rs587781664, CS111031, TP53_g.17908A>G, TP53_g.17908A>T, TP53_g.17908A>C, COSM1191161, COSM12663, COSM45409, COSM1386548, COSM1679487 1 FFPE GTGGC T/G GTAGG CMDL150425 FLD0243 FLD0267 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.997 0.996 1362 1244 pass pass 38411 35283 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150425 FLD0243 FLD0267 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 1.000 0.996 899 699 pass pass 27387 21652 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.13C>T p.L5F Ctc/Ttc chr6 152129060 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129060", "IGV") medium 0.184 1819 no call pass 3780 ESR1_1 ENSG00000091831 3 of 10 deleterious_low_confidence(0.01) possibly_damaging(0.853) 39 FFPE TGACC C/T TCCAC CMDL150426 FLD0244 FLD0268 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.358 0.487 1548 1819 pass pass 9438 15612 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150426 FLD0244 FLD0268 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.997 0.998 1323 1121 pass pass 38079 31828 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150426 FLD0244 FLD0268 stop_gained ESR1 c.766C>T p.R256* Cga/Tga chr6 152265313 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265313", "IGV") low 0.135 1641 no call QD 129 ESR1_12 ENSG00000091831 6 of 10 41 FFPE GGATA C/T GAAAA CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.785G>A p.G262E gGg/gAg chr6 152265332 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265332", "IGV") medium 0.402 1654 pass no call 11531 ESR1_12 ENSG00000091831 6 of 10 tolerated(0.25) probably_damaging(0.938) 22 FFPE AGGAG G/A GAGAA CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.851G>A p.G284E gGa/gAa chr6 152265398 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265398", "IGV") low 0.162 1666 QD no call 1355 ESR1_13 ENSG00000091831 6 of 10 tolerated(0.55) benign(0.012) 54 FFPE TGCTG G/A AGACA CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.937G>A p.D313N Gac/Aac chr6 152265484 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265484", "IGV") low 0.191 1161 no call QD 1445 ESR1_14 ENSG00000091831 6 of 10 deleterious(0) benign(0.024) 34 FFPE CGGCC G/A ACCAG CMDL150426 FLD0244 FLD0268 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.630 0.759 1205 1161 pass pass 15460 20720 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.1088G>A p.R363K aGg/aAg chr6 152265635 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265635", "IGV") low 0.170 2311 QD no call 3331 ESR1_15 ENSG00000091831 6 of 10 rs367647625 tolerated(1) benign(0.044) 41 FFPE GAAGA G/A GGTGC CMDL150426 FLD0244 FLD0268 synonymous ESR1 c.1089G>A c.1089G>A(p.%3D) agG/agA chr6 152265636 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265636", "IGV") medium 0.127 2311 pass no call 5654 ESR1_15 ENSG00000091831 6 of 10 40 FFPE AAGAG G/A GTGCC CMDL150426 FLD0244 FLD0268 intron ESR1 c.1097-15C>T chr6 152332776 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152332776", "IGV") low 0.160 1640 QD no call 899 ESR1_16 ENSG00000091831 6 of 9 52 FFPE TTTTT C/T TTGCT CMDL150426 FLD0244 FLD0268 intron ESR1 c.1097-11C>T chr6 152332780 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152332780", "IGV") low 0.148 1705 no call QD 837 ESR1_16 ENSG00000091831 6 of 9 56 FFPE TCTTG C/T TTGTT CMDL150426 FLD0244 FLD0268 synonymous ESR1 c.1185C>T c.1185C>T(p.%3D) tcC/tcT chr6 152332879 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152332879", "IGV") low 0.142 2105 no call QD 978 ESR1_17 ENSG00000091831 7 of 10 40 FFPE CGCTC C/T ATGGA CMDL150426 FLD0244 FLD0268 intron ESR1 c.1235+24G>A chr6 152332953 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152332953", "IGV") low 0.153 2436 no call QD 1469 ESR1_18 ENSG00000091831 7 of 9 rs746173690 49 FFPE GCTTA G/A GAGTA CMDL150426 FLD0244 FLD0268 synonymous ESR1 c.1257G>A c.1257G>A(p.%3D) gaG/gaA chr6 152382147 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382147", "IGV") low 0.134 1124 QD no call 133 ESR1_19 ENSG00000091831 8 of 10 33 FFPE GTAGA G/A GGCAT CMDL150426 FLD0244 FLD0268 synonymous ESR1 c.162C>T c.162C>T(p.%3D) taC/taT chr6 152129209 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129209", "IGV") low 0.175 1230 QD no call 1643 ESR1_2 ENSG00000091831 3 of 10 14 FFPE AACTA C/T CCCGA CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.1544G>A p.R515K aGg/aAg chr6 152415694 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415694", "IGV") low 0.194 1388 QD no call 2319 ESR1_22 ENSG00000091831 9 of 10 deleterious(0.02) possibly_damaging(0.515) 2 FFPE CATCA G/A GCACA CMDL150426 FLD0244 FLD0268 intron ESR1 c.1553+70G>A chr6 152415773 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415773", "IGV") low 0.152 0.081 2109 2355 QD QD 1015 1270 ESR1_23 ENSG00000091831 9 of 9 41 FFPE CAGCT G/A GCCGG CMDL150426 FLD0244 FLD0268 intron ESR1 c.1553+84G>A chr6 152415787 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415787", "IGV") low 0.082 2355 no call QD 1270 ESR1_23 ENSG00000091831 9 of 9 27 FFPE GGACT G/A GTGCC CMDL150426 FLD0244 FLD0268 intron ESR1 c.1554-45C>T chr6 152419822 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152419822", "IGV") medium 0.222 1452 pass no call 3205 ESR1_24 ENSG00000091831 9 of 9 rs755602098 18 FFPE GGGCT C/T GGGTT CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.1584G>A p.M528I atG/atA chr6 152419897 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152419897", "IGV") low 0.162 1452 QD no call 970 ESR1_24 ENSG00000091831 10 of 10 deleterious(0.03) possibly_damaging(0.606) 25 FFPE AGCAT G/A AAGTG CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.1777G>A p.A593T Gcc/Acc chr6 152420090 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420090", "IGV") low 0.087 2612 no call QD 1897 ESR1_26 ENSG00000091831 10 of 10 tolerated_low_confidence(0.95) benign(0.001) 41 FFPE TCCCT G/A CCACG CMDL150426 FLD0244 FLD0268 synonymous ESR1 c.1782G>A c.1782G>A(p.%3D) acG/acA chr6 152420095 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420095", "IGV") high 0.486 0.708 2562 2612 pass pass 24277 41407 ESR1_26 20734064, 19693267, 18980759, 21429951, 15113403, 15157284, 19941161, 19094228, 19319135, 20375995, 19654868, 20304699, 24587880, 15268889, 17609999, 19760036, 18627768, 20172949, 24721264, 16504171, 18636479, 19175383, 20046055, 20383761, 24395301, 18385916, 19636371, 18424448, 19519176, 19860576, 19926619, 20128071, 20729390, 16199553, 23574728, 22224819, 25116933, 23805288, 24403849, 21092186, 24052609, 17498544, 16213680, 19036616, 18164902, 17509487 ENSG00000091831 10 of 10 rs2228480, CM056948, COSM3761556 A:0.1887 36 FFPE GCCAC G/A GTCTG CMDL150426 FLD0244 FLD0268 synonymous ESR1 c.135C>T c.135C>T(p.%3D) gaC/gaT chr6 152129182 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129182", "IGV") medium 0.447 1444 pass no call 12030 ESR1_3 ENSG00000091831 3 of 10 37 FFPE CTGGA C/T AGCAG CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.241G>A p.G81S Ggc/Agc chr6 152129288 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129288", "IGV") low 0.182 1835 QD no call 2953 ESR1_4 ENSG00000091831 3 of 10 rs756487587 tolerated(0.18) benign(0.311) 18 FFPE CCTAC G/A GCCCC CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.268G>A p.G90S Ggc/Agc chr6 152129315 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129315", "IGV") low 0.141 1865 no call QD 1282 ESR1_4 ENSG00000091831 3 of 10 tolerated(0.11) benign(0.377) 45 FFPE CGTTC G/A GCTCC CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.314C>T p.P105L cCg/cTg chr6 152129361 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129361", "IGV") medium 0.455 1773 pass no call 12987 ESR1_5 ENSG00000091831 3 of 10 tolerated(0.09) benign(0.032) 3 FFPE GTCTC C/T GAGCC CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.424C>T p.R142C Cgc/Tgc chr6 152129471 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129471", "IGV") low 0.164 1340 no call QD 1449 ESR1_6 ENSG00000091831 3 of 10 tolerated(0.2) benign(0.013) 14 FFPE CGGTG C/T GCGAG CMDL150426 FLD0244 FLD0268 stop_gained ESR1 c.469C>T p.R157* Cga/Tga chr6 152163748 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163748", "IGV") low 0.145 2065 no call QD 674 ESR1_7 ENSG00000091831 4 of 10 CM940378, rs104893956, COSM206400 pathogenic 39 FFPE ATAAT C/T GACGC CMDL150426 FLD0244 FLD0268 nonsynonymous ESR1 c.478G>A p.G160S Ggt/Agt chr6 152163757 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152163757", "IGV") low 0.145 2349 no call QD 899 ESR1_8 ENSG00000091831 4 of 10 rs149308960 tolerated(0.79) benign(0.007) T:0.0006 9 FFPE GCCAG G/A GTGGC CMDL150426 FLD0244 FLD0268 synonymous ESR1 c.498C>T c.498C>T(p.%3D) gcC/gcT chr6 152163777 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163777", "IGV") medium 0.308 2346 pass no call 10754 ESR1_8 ENSG00000091831 4 of 10 29 FFPE TTGGC C/T AGTAC CMDL150426 FLD0244 FLD0268 intron ESR1 c.643+14G>A chr6 152163936 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152163936", "IGV") low 0.151 3235 QD no call 1486 ESR1_9 ENSG00000091831 4 of 9 36 FFPE GTGTT G/A AAAAC CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.577G>A p.V193M Gtg/Atg chr3 178919092 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919092", "IGV") medium 0.223 2321 no call pass 5260 PIK3CA_10 ENSG00000121879 4 of 21 tolerated(0.11) benign(0.033) 37 FFPE TAGTG G/A TGATC CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.607G>A p.D203N Gac/Aac chr3 178919122 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919122", "IGV") medium 0.219 2321 no call pass 5060 PIK3CA_10 ENSG00000121879 4 of 21 tolerated(0.4) benign(0.006) 50 FFPE ATAAT G/A ACAAG CMDL150426 FLD0244 FLD0268 synonymous PIK3CA c.678G>A c.678G>A(p.%3D) agG/agA chr3 178919193 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919193", "IGV") low 0.159 2329 QD no call 1959 PIK3CA_11 ENSG00000121879 4 of 21 27 FFPE ATCAG G/A AAAAA CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.709G>A p.E237K Gaa/Aaa chr3 178919224 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919224", "IGV") low 0.186 2329 QD no call 3101 PIK3CA_11 ENSG00000121879 4 of 21 deleterious(0.02) benign(0.345) 57 FFPE CCTCT G/A AACAA CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.742G>A p.G248S Ggc/Agc chr3 178919257 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919257", "IGV") medium 0.286 2329 pass no call 8146 PIK3CA_11 ENSG00000121879 4 of 21 tolerated(0.62) benign(0.037) 24 FFPE ATCAG G/A GCAAG CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.935C>T p.S312F tCc/tTc chr3 178921453 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178921453", "IGV") low 0.170 1458 QD no call 1626 PIK3CA_14 ENSG00000121879 5 of 21 tolerated(0.15) benign(0.282) 38 FFPE CATTT C/T CACAG CMDL150426 FLD0244 FLD0268 intron PIK3CA c.1059+71G>A chr3 178921648 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921648", "IGV") medium 0.323 458 no call pass 2447 PIK3CA_16 ENSG00000121879 5 of 20 41 FFPE ATACA G/A TAATC CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.40C>T p.H14Y Cac/Tac chr3 178916653 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916653", "IGV") low 0.144 2409 no call QD 3072 PIK3CA_2 ENSG00000121879 2 of 21 deleterious(0.04) probably_damaging(0.925) 14 FFPE GCATC C/T ACTTG CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.1316G>A p.G439E gGa/gAa chr3 178928038 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928038", "IGV") medium 0.405 923 no call pass 6579 PIK3CA_22 ENSG00000121879 8 of 21 tolerated(0.2) benign(0.099) 49 FFPE ATCTG G/A AAAAA CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.1447G>A p.V483M Gtg/Atg chr3 178928261 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928261", "IGV") low 0.143 2059 no call QD 621 PIK3CA_27 ENSG00000121879 9 of 21 tolerated(0.26) benign(0.021) 15 FFPE GCAGT G/A TGGTA CMDL150426 FLD0244 FLD0268 intron PIK3CA c.1539+70G>A chr3 178928423 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928423", "IGV") low 0.175 2418 QD no call 2884 PIK3CA_28 ENSG00000121879 9 of 20 22 FFPE TCTAT G/A GAAAA CMDL150426 FLD0244 FLD0268 intron PIK3CA c.2187+42G>A chr3 178938987 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178938987", "IGV") low 0.176 1184 QD no call 1294 PIK3CA_40 ENSG00000121879 14 of 20 rs745623203 49 FFPE CTGCA G/A TGGGG CMDL150426 FLD0244 FLD0268 intron PIK3CA c.2294+42C>T chr3 178942017 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178942017", "IGV") medium 0.235 1593 no call pass 3834 PIK3CA_42 ENSG00000121879 15 of 20 4 FFPE AATAC C/T TTTTC CMDL150426 FLD0244 FLD0268 synonymous PIK3CA c.2304G>A c.2304G>A(p.%3D) gaG/gaA chr3 178942497 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178942497", "IGV") low 0.167 816 QD no call 1361 PIK3CA_43 ENSG00000121879 16 of 21 39 FFPE GAAGA G/A TGTCG CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.2323G>A p.A775T Gca/Aca chr3 178942516 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178942516", "IGV") medium 0.172 816 pass no call 3824 PIK3CA_43 ENSG00000121879 16 of 21 deleterious(0.03) possibly_damaging(0.642) 53 FFPE CCTCT G/A CAAAA CMDL150426 FLD0244 FLD0268 intron PIK3CA c.2417-23G>A chr3 178943727 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178943727", "IGV") low 0.143 2130 no call QD 820 PIK3CA_45 ENSG00000121879 16 of 20 rs766251015 8 FFPE ATGGT G/A ATACA CMDL150426 FLD0244 FLD0268 splice_region,intron PIK3CA c.2495+4G>A chr3 178943832 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178943832", "IGV") medium 0.642 1773 pass no call 26136 PIK3CA_45 ENSG00000121879 17 of 20 17 FFPE CGGTA G/A GTAAC CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.2591G>A p.G864D gGc/gAc chr3 178947155 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947155", "IGV") medium 0.250 2032 pass no call 14869 PIK3CA_47 ENSG00000121879 18 of 21 deleterious(0.03) possibly_damaging(0.513) 46 FFPE CAAAG G/A CGGCT CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.2594G>A p.G865D gGc/gAc chr3 178947158 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947158", "IGV") medium 0.215 2032 pass no call 5854 PIK3CA_47 ENSG00000121879 18 of 21 COSM3590412, COSM3590411 tolerated(0.06) probably_damaging(0.973) 43 FFPE AGGCG G/A CTTGA CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.2720C>T p.A907V gCt/gTt chr3 178947845 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947845", "IGV") low 0.153 1758 QD no call 986 PIK3CA_50 ENSG00000121879 19 of 21 deleterious(0.03) possibly_damaging(0.697) 42 FFPE TGTAG C/T TACCT CMDL150426 FLD0244 FLD0268 synonymous PIK3CA c.2823G>A c.2823G>A(p.%3D) aaG/aaA chr3 178948051 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948051", "IGV") medium 0.234 971 pass no call 2739 PIK3CA_52 ENSG00000121879 20 of 21 rs749961927 25 FFPE CACAA G/A AAGAA CMDL150426 FLD0244 FLD0268 synonymous PIK3CA c.3075C>T c.3075C>T(p.%3D) acC/acT chr3 178952020 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178952020", "IGV") low 0.136 130 LowQual,QD no call 28 PIK3CA_56 19420344, 23982433, 25683757, 21473780, 24711897 ENSG00000121879 21 of 21 rs17849079, COSM21451 likely_benign T:0.0407 54 FFPE AAGAC C/T CTAGC CMDL150426 FLD0244 FLD0268 nonsynonymous PIK3CA c.451G>A p.V151M Gtg/Atg chr3 178917576 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917576", "IGV") low 0.191 1533 QD no call 2266 PIK3CA_8 ENSG00000121879 3 of 21 tolerated(0.25) benign(0.098) 39 FFPE AAGCT G/A TGGAT CMDL150426 FLD0244 FLD0268 3_prime_UTR TP53 c.*51C>T chr17 7572876 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572876", "IGV") low 0.163 1358 no call QD 2130 TP53_1 ENSG00000141510 11 of 11 rs760698953 30 FFPE GGGGA G/A GGAGA CMDL150426 FLD0244 FLD0268 3_prime_UTR TP53 c.*49C>T chr17 7572878 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572878", "IGV") low 0.147 1358 no call QD 611 TP53_1 ENSG00000141510 11 of 11 32 FFPE GGAGG G/A AGAGA CMDL150426 FLD0244 FLD0268 3_prime_UTR TP53 c.*35C>T chr17 7572892 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572892", "IGV") low 0.163 1358 no call QD 2120 TP53_1 ENSG00000141510 11 of 11 46 FFPE GGGTG G/A GAGGC CMDL150426 FLD0244 FLD0268 intron TP53 c.919+39G>A chr17 7576980 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576980", "IGV") low 0.208 1974 no call QD 3654 TP53_10 ENSG00000141510 8 of 10 28 FFPE TGCAC C/T CTTGG CMDL150426 FLD0244 FLD0268 intron TP53 c.919+29G>A chr17 7576990 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576990", "IGV") low 0.150 1626 QD no call 642 TP53_10 ENSG00000141510 8 of 10 TP53_g.13928G>A 38 FFPE GTCTC C/T TCCAC CMDL150426 FLD0244 FLD0268 synonymous TP53 c.882G>A c.882G>A(p.%3D) gaG/gaA chr17 7577056 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577056", "IGV") low 0.154 1626 QD no call 481 TP53_10 ENSG00000141510 8 of 11 TP53_g.13862G>T, TP53_g.13862G>A, COSM45534, COSM44412 17 FFPE TGAGG C/T TCCCC CMDL150426 FLD0244 FLD0268 intron TP53 c.783-34C>T chr17 7577189 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577189", "IGV") low 0.141 1765 no call QD 682 TP53_12 ENSG00000141510 7 of 10 rs376988747 8 FFPE AGGCA G/A TAAGG CMDL150426 FLD0244 FLD0268 intron TP53 c.782+72C>T chr17 7577427 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577427", "IGV") medium 0.511 0.560 1668 2407 FS pass 9443 23892 TP53_13 20436704, 19224585, 23161286, 20377871, 17449902, 19423538, 20110284, 23435014, 22962577, 21514219 ENSG00000141510 7 of 10 rs12947788 A:0.1783 21 FFPE GGTGG G/A CCCAG CMDL150426 FLD0244 FLD0268 intron TP53 c.782+46G>A chr17 7577453 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577453", "IGV") low 0.084 2407 no call QD 191 TP53_13 ENSG00000141510 7 of 10 TP53_g.13465G>A, COSM45004 47 FFPE AGAGG C/T TGGGG CMDL150426 FLD0244 FLD0268 splice_region,intron TP53 c.782+3C>T chr17 7577496 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577496", "IGV") low 0.202 1668 QD no call 2058 TP53_13 ENSG00000141510 7 of 10 TP53_g.13422C>G, TP53_g.13422C>T, COSM45192 4 FFPE CTCCT G/A ACCTG CMDL150426 FLD0244 FLD0268 nonsynonymous TP53 c.572C>T p.P191L cCt/cTt chr17 7578277 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578277", "IGV") low 0.134 1288 QD no call 164 TP53_17 ENSG00000141510 6 of 11 rs587778718, CD972478, TP53_g.12641C>G, TP53_g.12641del, TP53_g.12641C>T, TP53_g.12641C>A, COSM44172, COSM44351, COSM45075, COSM3890517, COSM3890520, COSM3890522, COSM3890519, COSM3890518, COSM3890521 deleterious(0.01) probably_damaging(1) uncertain_significance,not_provided 23 FFPE GCTGA G/A GAGGG CMDL150426 FLD0244 FLD0268 splice_region,intron TP53 c.559+5G>A chr17 7578366 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578366", "IGV") medium 0.351 1306 pass no call 7609 TP53_17 ENSG00000141510 5 of 10 TP53_g.12552G>T, TP53_g.12552G>C, COSM45730, COSM46139 10 FFPE AGCTG C/T TCACC CMDL150426 FLD0244 FLD0268 nonsynonymous TP53 c.323G>A p.G108D gGt/gAt chr17 7579364 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579364", "IGV") medium 0.447 1216 no call pass 9980 TP53_22 ENSG00000141510 4 of 11 TP53_g.11554G>A, COSM45925, COSM437631, COSM437632, COSM437633 tolerated(0.18) benign(0.37) 32 FFPE GGAAA C/T CGTAG CMDL150426 FLD0244 FLD0268 nonsynonymous TP53 c.265C>T p.P89S Ccc/Tcc chr17 7579422 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579422", "IGV") low 0.086 809 no call QD 579 TP53_23 ENSG00000141510 4 of 11 TP53_g.11496C>T, TP53_g.11496del, COSM43688, COSM46063 tolerated(0.52) benign(0.017) 33 FFPE GGAGG G/A GGCTG CMDL150426 FLD0244 FLD0268 synonymous TP53 c.264C>T c.264C>T(p.%3D) gcC/gcT chr17 7579423 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579423", "IGV") low 0.084 809 no call QD 525 TP53_23 ENSG00000141510 4 of 11 TP53_g.11495C>T 34 FFPE GAGGG G/A GCTGG CMDL150426 FLD0244 FLD0268 synonymous TP53 c.252C>T c.252C>T(p.%3D) gcC/gcT chr17 7579435 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579435", "IGV") medium 0.279 809 no call pass 2838 TP53_23 ENSG00000141510 4 of 11 rs549892645, TP53_g.11483C>T, COSM45512 46 FFPE GCAGG G/A GCCGC CMDL150426 FLD0244 FLD0268 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.771 0.556 993 809 pass pass 19697 9299 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150426 FLD0244 FLD0268 nonsynonymous TP53 c.214C>T p.P72S Ccc/Tcc chr17 7579473 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579473", "IGV") medium 0.361 993 pass no call 5965 TP53_23 ENSG00000141510 4 of 11 TP53_g.11445C>T, TP53_g.11445del, COSM44256, COSM44018, COSM4070066, COSM4070069, COSM4070068, COSM4070067 tolerated(0.8) benign(0.002) 29 FFPE CACGG G/A GGGAG CMDL150426 FLD0244 FLD0268 synonymous TP53 c.90C>T c.90C>T(p.%3D) aaC/aaT chr17 7579706 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579706", "IGV") medium 0.203 171 pass no call 409 TP53_26 ENSG00000141510 3 of 11 rs370992294, COSM1717722, COSM1717721, COSM1717724, COSM1717723, COSM1717725 32 FFPE AGAAC G/A TTGTT CMDL150426 FLD0244 FLD0268 nonsynonymous,splice_region TP53 c.76C>T p.L26F Ctt/Ttt chr17 7579720 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579720", "IGV") medium 0.183 425 no call pass 963 TP53_26 ENSG00000141510 3 of 11 TP53_g.11198del deleterious(0) probably_damaging(0.949) 18 FFPE AGGAA G/A TCTGA CMDL150426 FLD0244 FLD0268 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 0.567 0.779 355 233 pass pass 4092 4045 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150426 FLD0244 FLD0268 stop_gained TP53 c.68G>A p.W23* tGg/tAg chr17 7579845 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579845", "IGV") medium 0.358 355 pass no call 1961 TP53_27 ENSG00000141510 2 of 11 4 FFPE GTTTC C/T ATAGG CMDL150426 FLD0244 FLD0268 intron TP53 c.-28-10C>T chr17 7579950 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579950", "IGV") medium 0.214 1975 pass no call 4971 TP53_28 ENSG00000141510 1 of 10 15 FFPE AAGAG G/A AAAAG CMDL150426 FLD0244 FLD0268 nonsynonymous TP53 c.1133C>T p.S378F tCc/tTc chr17 7572976 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572976", "IGV") medium 0.259 1448 no call pass 6481 TP53_3 ENSG00000141510 11 of 11 deleterious(0.03) benign(0.078) 14 FFPE GGCGG G/A AGGTA CMDL150426 FLD0244 FLD0268 nonsynonymous TP53 c.1127C>T p.S376F tCt/tTt chr17 7572982 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572982", "IGV") medium 0.259 1448 no call pass 12243 TP53_3 ENSG00000141510 11 of 11 deleterious(0.01) possibly_damaging(0.895) 20 FFPE AGGTA G/A ACTGA CMDL150426 FLD0244 FLD0268 nonsynonymous,splice_region TP53 c.1102C>T p.H368Y Cac/Tac chr17 7573007 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573007", "IGV") medium 0.260 1448 no call pass 6553 TP53_3 ENSG00000141510 11 of 11 tolerated(1) benign(0.001) 45 FFPE CAGGT G/A GCTGT CMDL150426 FLD0244 FLD0268 intron TP53 c.1101-51C>T chr17 7573059 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573059", "IGV") low 0.115 1448 no call QD 2110 TP53_3 ENSG00000141510 10 of 10 rs767047551 24 FFPE AGAGG G/A TCTGT CMDL150426 FLD0244 FLD0268 intron TP53 c.993+313G>A chr17 7576540 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576540", "IGV") low 0.155 1363 QD no call 935 TP53_6 ENSG00000141510 9 of 10 rs372821099 T:0.0002 44 FFPE ACTTA C/T GACGA CMDL150426 FLD0244 FLD0268 intron TP53 c.993+284C>T chr17 7576569 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576569", "IGV") medium 0.222 1412 no call pass 3247 TP53_6 ENSG00000141510 9 of 10 rs554738122 A:0.0002 38 FFPE CCATC G/A TAAGT CMDL150426 FLD0244 FLD0268 intron TP53 c.919+42G>A chr17 7576977 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576977", "IGV") low 0.202 1810 no call QD 3230 TP53_9 ENSG00000141510 8 of 10 21 FFPE AACTG C/T ACCCT CMDL150426 FLD0244 FLD0268 intron TP53 c.919+39G>A chr17 7576980 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576980", "IGV") low 0.088 1934 QD no call 1401 TP53_9 ENSG00000141510 8 of 10 18 FFPE TGCAC C/T CTTGG CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") medium 0.996 1.000 1296 46 pass pass 46527 1150 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.753G>A p.M251I atG/atA chr6 152201899 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152201899", "IGV") medium 0.468 1296 pass no call 11069 ESR1_11 ENSG00000091831 5 of 10 deleterious(0.02) benign(0.019) 10 FFPE ATGAT G/A AAAGG CMDL150427 FLD0245 FLD0269 nonsynonymous,splice_region ESR1 c.761G>A p.G254E gGg/gAg chr6 152265308 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265308", "IGV") low 0.141 761 QD no call 114 ESR1_12 ENSG00000091831 6 of 10 deleterious(0) probably_damaging(0.997) 46 FFPE TTCAG G/A GATAC CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.858G>A p.M286I atG/atA chr6 152265405 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265405", "IGV") low 0.130 1408 QD no call 89 ESR1_13 ENSG00000091831 6 of 10 tolerated(0.21) benign(0) 47 FFPE GACAT G/A AGAGC CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.884C>T p.P295L cCg/cTg chr6 152265431 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265431", "IGV") medium 0.271 1657 no call pass 6115 ESR1_13 ENSG00000091831 6 of 10 rs776270356 deleterious(0.01) benign(0.026) 21 FFPE AAGCC C/T GCTCA CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.981C>T c.981C>T(p.%3D) ctC/ctT chr6 152265528 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265528", "IGV") low 0.212 1257 no call QD 2167 ESR1_14 ENSG00000091831 6 of 10 COSM1251506 44 FFPE ATACT C/T TATTC CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.1006C>T p.P336S Ccc/Tcc chr6 152265553 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265553", "IGV") medium 0.309 1117 pass no call 4783 ESR1_14 ENSG00000091831 6 of 10 COSM1329267 deleterious(0.01) benign(0.213) 19 FFPE CCAGA C/T CCTTC CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.1038G>A c.1038G>A(p.%3D) ctG/ctA chr6 152265585 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265585", "IGV") low 0.182 1835 QD no call 2025 ESR1_15 ENSG00000091831 6 of 10 24 FFPE TTACT G/A ACCAA CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.1086G>A c.1086G>A(p.%3D) aaG/aaA chr6 152265633 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265633", "IGV") low 0.184 1835 QD no call 2563 ESR1_15 ENSG00000091831 6 of 10 43 FFPE GCGAA G/A AGGGT CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.1089G>A c.1089G>A(p.%3D) agG/agA chr6 152265636 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265636", "IGV") low 0.166 1835 QD no call 1773 ESR1_15 ENSG00000091831 6 of 10 40 FFPE AAGAG G/A GTGCC CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.1140A>G c.1140A>G(p.%3D) gaA/gaG chr6 152332834 A G =hyperlink("http://localhost:60151/goto?locus=chr6:152332834", "IGV") medium 0.240 1206 no call pass 3294 ESR1_16 ENSG00000091831 7 of 10 6 FFPE CTAGA A/G TGTGC CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.1155G>A c.1155G>A(p.%3D) gaG/gaA chr6 152332849 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152332849", "IGV") medium 0.354 1538 no call pass 7993 ESR1_17 ENSG00000091831 7 of 10 43 FFPE CTAGA G/A ATCCT CMDL150427 FLD0245 FLD0269 splice_region,intron ESR1 c.1235+7G>A chr6 152332936 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152332936", "IGV") medium 0.227 220 no call pass 550 ESR1_18 ENSG00000091831 7 of 9 32 FFPE TAAGT G/A ACCTG CMDL150427 FLD0245 FLD0269 intron ESR1 c.1236-61G>A chr6 152382065 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382065", "IGV") low 0.176 416 QD no call 461 ESR1_19 ENSG00000091831 7 of 9 5 FFPE CTTGT G/A GAAGA CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.1275C>T c.1275C>T(p.%3D) ttC/ttT chr6 152382165 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152382165", "IGV") low 0.134 416 QD no call 201 ESR1_19 ENSG00000091831 8 of 10 15 FFPE ATCTT C/T GACAT CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.1278C>T c.1278C>T(p.%3D) gaC/gaT chr6 152382168 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152382168", "IGV") low 0.139 701 no call LowQual,QD 27 ESR1_19 ENSG00000091831 8 of 10 12 FFPE TTCGA C/T ATGCT CMDL150427 FLD0245 FLD0269 nonsynonymous,splice_region ESR1 c.1372G>A p.V458M Gtg/Atg chr6 152415522 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415522", "IGV") low 0.136 2295 no call QD 590 ESR1_21 ENSG00000091831 9 of 10 tolerated(1) benign(0.091) 38 FFPE CAGGA G/A TGTAC CMDL150427 FLD0245 FLD0269 stop_gained ESR1 c.1429C>T p.R477* Cga/Tga chr6 152415579 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415579", "IGV") low 0.181 2232 QD no call 2982 ESR1_21 ENSG00000091831 9 of 10 rs762742833, COSM3859177 21 FFPE TCCAC C/T GAGTC CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.1533C>T c.1533C>T(p.%3D) ctC/ctT chr6 152415683 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415683", "IGV") low 0.171 780 QD no call 1093 ESR1_22 ENSG00000091831 9 of 10 13 FFPE ATCCT C/T TCCCA CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.1664G>A p.R555H cGt/cAt chr6 152419977 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152419977", "IGV") low 0.163 1806 no call QD 951 ESR1_25 ENSG00000091831 10 of 10 rs778554662, COSM1074642 tolerated(0.11) benign(0.003) 51 FFPE TAGCC G/A TGGAG CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.1705G>A p.A569T Gcc/Acc chr6 152420018 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420018", "IGV") low 0.170 1806 no call QD 729 ESR1_25 ENSG00000091831 10 of 10 rs199967983 tolerated(0.27) benign(0.003) 10 FFPE ACTTG G/A CCACT CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.1782G>A c.1782G>A(p.%3D) acG/acA chr6 152420095 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420095", "IGV") high 0.748 0.490 1993 2380 pass pass 34677 22103 ESR1_26 20734064, 19693267, 18980759, 21429951, 15113403, 15157284, 19941161, 19094228, 19319135, 20375995, 19654868, 20304699, 24587880, 15268889, 17609999, 19760036, 18627768, 20172949, 24721264, 16504171, 18636479, 19175383, 20046055, 20383761, 24395301, 18385916, 19636371, 18424448, 19519176, 19860576, 19926619, 20128071, 20729390, 16199553, 23574728, 22224819, 25116933, 23805288, 24403849, 21092186, 24052609, 17498544, 16213680, 19036616, 18164902, 17509487 ENSG00000091831 10 of 10 rs2228480, CM056948, COSM3761556 A:0.1887 36 FFPE GCCAC G/A GTCTG CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.133G>A p.D45N Gac/Aac chr6 152129180 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129180", "IGV") low 0.172 612 no call QD 670 ESR1_3 ENSG00000091831 3 of 10 deleterious(0.05) possibly_damaging(0.689) 35 FFPE ACCTG G/A ACAGC CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.181G>A p.E61K Gag/Aag chr6 152129228 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129228", "IGV") medium 0.402 238 pass no call 1649 ESR1_3 ENSG00000091831 3 of 10 deleterious(0.02) benign(0.291) 34 FFPE CCTAC G/A AGTTC CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.230G>C p.G77A gGc/gCc chr6 152129277 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152129277", "IGV") medium 0.244 2015 no call pass 5496 ESR1_4 ENSG00000091831 3 of 10 tolerated(0.3) benign(0.2) 7 FFPE GACCG G/C CCTCC CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.232C>T p.L78F Ctc/Ttc chr6 152129279 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129279", "IGV") low 0.175 2015 no call QD 2252 ESR1_4 ENSG00000091831 3 of 10 rs767847192 tolerated(0.13) possibly_damaging(0.776) 9 FFPE CCGGC C/T TCCCC CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.263C>T p.A88V gCg/gTg chr6 152129310 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129310", "IGV") low 0.119 2089 QD no call 369 ESR1_4 ENSG00000091831 3 of 10 tolerated(0.07) benign(0.291) 40 FFPE TGCGG C/T GTTCG CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.273C>T c.273C>T(p.%3D) tcC/tcT chr6 152129320 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129320", "IGV") low 0.118 2089 QD no call 238 ESR1_4 ENSG00000091831 3 of 10 49 FFPE GGCTC C/T AACGG CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.361C>T c.361C>T(p.%3D) Ctg/Ttg chr6 152129408 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129408", "IGV") low 0.123 1507 no call QD 45 ESR1_5 ENSG00000091831 3 of 10 29 FFPE CTTTC C/T TGCAG CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.414C>T c.414C>T(p.%3D) ggC/ggT chr6 152129461 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129461", "IGV") medium 0.428 1255 pass no call 9253 ESR1_6 ENSG00000091831 3 of 10 11 FFPE AGCGG C/T TACAC CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.491G>A p.R164K aGa/aAa chr6 152163770 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152163770", "IGV") medium 0.231 1985 no call pass 5301 ESR1_7 ENSG00000091831 4 of 10 tolerated(0.87) benign(0.403) 17 FFPE AGAAA G/A ATTGG CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.503C>T p.T168I aCc/aTc chr6 152163782 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163782", "IGV") low 0.201 1891 QD no call 3328 ESR1_7 ENSG00000091831 4 of 10 tolerated(0.2) benign(0.01) 5 FFPE CAGTA C/T CAATG CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.510C>T c.510C>T(p.%3D) gaC/gaT chr6 152163789 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163789", "IGV") medium 0.416 1887 pass no call 14375 ESR1_8 ENSG00000091831 4 of 10 41 FFPE AATGA C/T AAGGG CMDL150427 FLD0245 FLD0269 nonsynonymous ESR1 c.535G>A p.A179T Gcc/Acc chr6 152163814 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152163814", "IGV") low 0.126 1887 QD no call 112 ESR1_8 ENSG00000091831 4 of 10 tolerated(0.39) benign(0.012) 51 FFPE AATCT G/A CCAAG CMDL150427 FLD0245 FLD0269 synonymous ESR1 c.603C>T c.603C>T(p.%3D) tcC/tcT chr6 152163882 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163882", "IGV") low 0.139 2898 no call QD 301 ESR1_9 ENSG00000091831 4 of 10 23 FFPE TGGTC C/T TGTGA CMDL150427 FLD0245 FLD0269 stop_gained PIK3CA c.585G>A p.W195* tgG/tgA chr3 178919100 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919100", "IGV") medium 0.243 899 pass no call 2781 PIK3CA_10 ENSG00000121879 4 of 21 45 FFPE ATCTG G/A GTAAT CMDL150427 FLD0245 FLD0269 synonymous PIK3CA c.900C>T c.900C>T(p.%3D) gaC/gaT chr3 178921418 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178921418", "IGV") low 0.198 1547 no call QD 2212 PIK3CA_13 ENSG00000121879 5 of 21 8 FFPE ATGGA C/T TGTTT CMDL150427 FLD0245 FLD0269 intron PIK3CA c.1059+19G>A chr3 178921596 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921596", "IGV") low 0.400 20 pass no call 110 PIK3CA_16 ENSG00000121879 5 of 20 rs201940827 23 FFPE CTGAT G/A CTTAT CMDL150427 FLD0245 FLD0269 synonymous PIK3CA c.1098C>T c.1098C>T(p.%3D) ccC/ccT chr3 178922329 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178922329", "IGV") medium 0.636 1281 pass no call 17691 PIK3CA_17 ENSG00000121879 6 of 21 39 FFPE GAACC C/T TTATG CMDL150427 FLD0245 FLD0269 nonsynonymous PIK3CA c.1103G>A p.C368Y tGt/tAt chr3 178922334 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178922334", "IGV") medium 0.398 1537 pass no call 10264 PIK3CA_18 ENSG00000121879 6 of 21 deleterious(0) probably_damaging(0.997) 13 FFPE CTTAT G/A TGACA CMDL150427 FLD0245 FLD0269 intron PIK3CA c.1146-19G>A chr3 178927364 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178927364", "IGV") medium 0.322 695 pass no call 2849 PIK3CA_19 ENSG00000121879 6 of 20 43 FFPE TTTTT G/A CTTTA CMDL150427 FLD0245 FLD0269 nonsynonymous PIK3CA c.1186C>T p.L396F Ctt/Ttt chr3 178927423 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178927423", "IGV") low 0.206 695 QD no call 1027 PIK3CA_19 ENSG00000121879 7 of 21 deleterious(0.01) possibly_damaging(0.583) 17 FFPE CTGAT C/T TTCCT CMDL150427 FLD0245 FLD0269 nonsynonymous PIK3CA c.1198G>A p.A400T Gct/Act chr3 178927435 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178927435", "IGV") medium 0.322 695 pass no call 2513 PIK3CA_19 ENSG00000121879 7 of 21 deleterious(0) probably_damaging(1) 5 FFPE GTGCT G/A CTCGA CMDL150427 FLD0245 FLD0269 synonymous PIK3CA c.1443C>T c.1443C>T(p.%3D) agC/agT chr3 178928257 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178928257", "IGV") medium 0.430 1395 no call pass 10247 PIK3CA_27 ENSG00000121879 9 of 21 11 FFPE TTCAG C/T AGTGT CMDL150427 FLD0245 FLD0269 nonsynonymous PIK3CA c.2180C>T p.T727I aCa/aTa chr3 178938938 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178938938", "IGV") medium 0.313 2289 pass no call 10137 PIK3CA_39 ENSG00000121879 14 of 21 tolerated(0.17) benign(0.221) 8 FFPE TGAAA C/T ACAAA CMDL150427 FLD0245 FLD0269 nonsynonymous PIK3CA c.277C>T p.R93W Cgg/Tgg chr3 178916890 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916890", "IGV") low 0.181 870 QD no call 1262 PIK3CA_4 ENSG00000121879 2 of 21 COSM27493, COSM1041455 deleterious(0) probably_damaging(0.997) 24 FFPE ACCTT C/T GGCTT CMDL150427 FLD0245 FLD0269 nonsynonymous,splice_region PIK3CA c.2188G>A p.V730I Gta/Ata chr3 178941869 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178941869", "IGV") medium 0.432 1871 no call pass 14653 PIK3CA_41 ENSG00000121879 15 of 21 tolerated(0.45) benign(0.005) 48 FFPE ATCAG G/A TACAG CMDL150427 FLD0245 FLD0269 intron PIK3CA c.2416+11G>A chr3 178942620 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178942620", "IGV") medium 0.404 1509 no call pass 10873 PIK3CA_44 ENSG00000121879 16 of 20 52 FFPE GAAGA G/A TATTA CMDL150427 FLD0245 FLD0269 nonsynonymous,splice_region PIK3CA c.2495G>A p.R832Q cGa/cAa chr3 178943828 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178943828", "IGV") medium 0.232 960 no call pass 2305 PIK3CA_45 ENSG00000121879 17 of 21 tolerated(0.07) probably_damaging(0.97) 21 FFPE TCTTC G/A GTAGG CMDL150427 FLD0245 FLD0269 intron PIK3CA c.2495+10C>T chr3 178943838 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178943838", "IGV") medium 0.571 960 no call pass 12870 PIK3CA_45 ENSG00000121879 17 of 20 11 FFPE GTAAC C/T AGTAA CMDL150427 FLD0245 FLD0269 nonsynonymous PIK3CA c.2612A>G p.Q871R cAg/cGg chr3 178947176 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178947176", "IGV") medium 0.244 1928 pass no call 5596 PIK3CA_47 ENSG00000121879 18 of 21 deleterious(0.02) probably_damaging(0.971) 25 FFPE ACTGC A/G GTTCA CMDL150427 FLD0245 FLD0269 intron PIK3CA c.2667-58C>T chr3 178947734 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947734", "IGV") low 0.200 3143 QD no call 5862 PIK3CA_49 ENSG00000121879 18 of 20 12 FFPE TTTCT C/T AAGTT CMDL150427 FLD0245 FLD0269 synonymous PIK3CA c.333G>A c.333G>A(p.%3D) aaG/aaA chr3 178916946 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916946", "IGV") medium 0.300 494 no call pass 2375 PIK3CA_5 ENSG00000121879 2 of 21 COSM27505, COSM12580, COSM1041464, COSM582516 55 FFPE GAAAA G/A ATCCT CMDL150427 FLD0245 FLD0269 intron PIK3CA c.352+29C>A chr3 178916994 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178916994", "IGV") low 0.158 758 QD no call 627 PIK3CA_5 ENSG00000121879 2 of 20 14 FFPE AAATG C/A AAATA CMDL150427 FLD0245 FLD0269 synonymous PIK3CA c.2727C>T c.2727C>T(p.%3D) ttC/ttT chr3 178947852 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947852", "IGV") medium 0.255 1654 pass no call 4777 PIK3CA_50 ENSG00000121879 19 of 21 COSM1420910, COSM1308842, COSM12589, COSM1420909, COSM1308841 49 FFPE ACCTT C/T ATTTT CMDL150427 FLD0245 FLD0269 intron PIK3CA c.2784+33G>A chr3 178947942 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947942", "IGV") low 0.210 1456 no call QD 2732 PIK3CA_51 ENSG00000121879 19 of 20 41 FFPE TTGGT G/A TTCTT CMDL150427 FLD0245 FLD0269 intron PIK3CA c.2785-40G>A chr3 178947973 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947973", "IGV") medium 0.728 1042 pass no call 17408 PIK3CA_52 ENSG00000121879 19 of 20 10 FFPE TATCT G/A CATAT CMDL150427 FLD0245 FLD0269 nonsynonymous PIK3CA c.2815G>A p.D939N Gat/Aat chr3 178948043 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948043", "IGV") medium 0.727 1042 pass no call 17698 PIK3CA_52 ENSG00000121879 20 of 21 tolerated(0.68) benign(0.096) 33 FFPE TTTTG G/A ATCAC CMDL150427 FLD0245 FLD0269 synonymous PIK3CA c.2823G>A c.2823G>A(p.%3D) aaG/aaA chr3 178948051 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948051", "IGV") medium 0.401 1337 no call pass 9373 PIK3CA_52 ENSG00000121879 20 of 21 rs749961927 25 FFPE CACAA G/A AAGAA CMDL150427 FLD0245 FLD0269 intron PIK3CA c.2936+9G>A chr3 178948173 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948173", "IGV") low 0.134 1410 no call QD 374 PIK3CA_54 ENSG00000121879 20 of 20 rs756341833 29 FFPE AGCTC G/A AGCAA CMDL150427 FLD0245 FLD0269 nonsynonymous PIK3CA c.3019G>A p.G1007S Ggc/Agc chr3 178951964 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178951964", "IGV") medium 0.227 2631 pass no call 5957 PIK3CA_55 ENSG00000121879 21 of 21 COSM17443, COSM94982 tolerated(1) benign(0.054) 12 FFPE TGCTT G/A GCTCT CMDL150427 FLD0245 FLD0269 nonsynonymous PIK3CA c.521C>T p.S174L tCa/tTa chr3 178917646 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917646", "IGV") medium 0.252 1135 pass no call 3721 PIK3CA_9 ENSG00000121879 3 of 21 deleterious(0.01) benign(0.285) 38 FFPE ATCTT C/T ACCAG CMDL150427 FLD0245 FLD0269 3_prime_UTR TP53 c.*30G>A chr17 7572897 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7572897", "IGV") medium 0.467 364 pass no call 3191 TP53_1 ENSG00000141510 11 of 11 rs746581308 51 FFPE GGAGG C/T TGTCA CMDL150427 FLD0245 FLD0269 synonymous TP53 c.1155C>T c.1155C>T(p.%3D) ttC/ttT chr17 7572954 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572954", "IGV") medium 0.541 364 pass no call 3902 TP53_1 ENSG00000141510 11 of 11 14 FFPE GTCTT G/A AACAT CMDL150427 FLD0245 FLD0269 nonsynonymous TP53 c.877G>A p.G293R Ggg/Agg chr17 7577061 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577061", "IGV") medium 0.402 2192 no call pass 15382 TP53_11 ENSG00000141510 8 of 11 rs587780076, CM910627, TP53_g.13857del, TP53_g.13857G>C, TP53_g.13857G>T, TP53_g.13857G>A, COSM45670, COSM46165, COSM45417, COSM46261 tolerated(0.49) possibly_damaging(0.761) uncertain_significance 44 FFPE CTCCC C/T TTTCT CMDL150427 FLD0245 FLD0269 intron TP53 c.782+53C>T chr17 7577446 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577446", "IGV") low 0.135 2298 no call QD 359 TP53_13 ENSG00000141510 7 of 10 40 FFPE GGCAA G/A CAGAG CMDL150427 FLD0245 FLD0269 intron TP53 c.782+15G>A chr17 7577484 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577484", "IGV") medium 0.200 2298 no call pass 7582 TP53_13 ENSG00000141510 7 of 10 16 FFPE GGTGG C/T AAGTG CMDL150427 FLD0245 FLD0269 synonymous TP53 c.699C>T c.699C>T(p.%3D) caC/caT chr17 7577582 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577582", "IGV") medium 0.238 1372 pass no call 3650 TP53_14 ENSG00000141510 7 of 11 TP53_g.13336C>T, TP53_g.13336del, TP53_g.13336C>G, COSM44350 11 FFPE TTGTA G/A TGGAT CMDL150427 FLD0245 FLD0269 intron TP53 c.672+16G>A chr17 7578161 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578161", "IGV") medium 0.201 390 pass no call 821 TP53_15 ENSG00000141510 6 of 10 21 FFPE GACCC C/T AGTTG CMDL150427 FLD0245 FLD0269 nonsynonymous TP53 c.580C>T p.L194F Ctt/Ttt chr17 7578269 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578269", "IGV") low 0.138 1543 no call QD 224 TP53_16 ENSG00000141510 6 of 11 rs587780071, TP53_g.12649C>T, TP53_g.12649del, TP53_g.12649C>A, TP53_g.12649C>G, COSM10995, COSM45330, COSM46117, COSM376381, COSM376382, COSM376384, COSM1679502, COSM376383 deleterious(0) probably_damaging(1) pathogenic 34 FFPE GATAA G/A ATGCT CMDL150427 FLD0245 FLD0269 splice_acceptor TP53 c.560-1G>A chr17 7578290 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578290", "IGV") medium 0.387 1543 no call pass 10920 TP53_16 ENSG00000141510 5 of 10 CD043957, CS011574, CS083991, TP53_g.12628G>A, TP53_g.12628del, TP53_g.12628G>T, TP53_g.12628G>C, COSM43753, COSM43872, COSM43841, COSM45366, COSM341763, COSM127200, COSM335063, COSM341764, COSM127201, COSM335064, COSM127203, COSM341766, COSM335066, COSM4139869, COSM3717656, COSM1649389, COSM1649388, COSM127202, COSM335065, COSM341765 13 FFPE CAGAC C/T TAAGA CMDL150427 FLD0245 FLD0269 nonsynonymous TP53 c.572C>T p.P191L cCt/cTt chr17 7578277 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578277", "IGV") medium 0.915 943 no call pass 24175 TP53_17 ENSG00000141510 6 of 11 rs587778718, CD972478, TP53_g.12641C>G, TP53_g.12641del, TP53_g.12641C>T, TP53_g.12641C>A, COSM44172, COSM44351, COSM45075, COSM3890517, COSM3890520, COSM3890522, COSM3890519, COSM3890518, COSM3890521 deleterious(0.01) probably_damaging(1) uncertain_significance,not_provided 23 FFPE GCTGA G/A GAGGG CMDL150427 FLD0245 FLD0269 splice_region,synonymous TP53 c.562C>T c.562C>T(p.%3D) Ctg/Ttg chr17 7578287 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578287", "IGV") low 0.074 943 no call QD 115 TP53_17 ENSG00000141510 6 of 11 TP53_g.12631C>G, TP53_g.12631C>T, TP53_g.12631del, COSM3727816, COSM44602 33 FFPE GGCCA G/A ACCTA CMDL150427 FLD0245 FLD0269 intron TP53 c.559+15C>T chr17 7578356 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578356", "IGV") low 0.074 943 no call QD 237 TP53_17 ENSG00000141510 5 of 10 20 FFPE CTCCA G/A CCCCA CMDL150427 FLD0245 FLD0269 intron TP53 c.559+9C>T chr17 7578362 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578362", "IGV") medium 0.924 943 no call pass 24558 TP53_17 ENSG00000141510 5 of 10 TP53_g.12556C>T, COSM43927 14 FFPE CCCCA G/A CTGCT CMDL150427 FLD0245 FLD0269 nonsynonymous TP53 c.487T>A p.Y163N Tac/Aac chr17 7578443 A T =hyperlink("http://localhost:60151/goto?locus=chr17:7578443", "IGV") high 0.498 0.510 1082 1399 pass pass 11063 15923 TP53_19 ENSG00000141510 5 of 11 TP53_g.12475T>C, TP53_g.12475T>G, TP53_g.12475T>A, TP53_g.12475del, COSM43846, COSM44623, COSM44216, COSM45194, COSM307268, COSM1522497, COSM226791, COSM307267, COSM1522498, COSM226790, COSM307269, COSM226792, COSM1522500, COSM3717662, COSM3980300, COSM3717661, COSM3980299, COSM226793, COSM1522499, COSM307270 deleterious(0) probably_damaging(1) 42 FFPE CTTGT A/T GATGG CMDL150427 FLD0245 FLD0269 nonsynonymous TP53 c.464C>T p.T155I aCc/aTc chr17 7578466 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578466", "IGV") medium 0.497 1082 pass no call 10778 TP53_19 ENSG00000141510 5 of 11 CM942117, HM090066, TP53_g.12452C>G, TP53_g.12452C>T, TP53_g.12452C>A, COSM44033, COSM11218, COSM44545, COSM213311, COSM562621, COSM562622, COSM213310, COSM562624, COSM213312, COSM3403277, COSM2152706, COSM1649373, COSM562623, COSM213313 deleterious(0.01) possibly_damaging(0.856) 19 FFPE CGCGG G/A TGCCG CMDL150427 FLD0245 FLD0269 nonsynonymous TP53 c.1177G>A p.D393N Gac/Aac chr17 7572932 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7572932", "IGV") low 0.137 2315 no call QD 493 TP53_2 ENSG00000141510 11 of 11 TP53_g.17986G>A deleterious(0.02) benign(0.093) 4 FFPE TCAGT C/T TGAGT CMDL150427 FLD0245 FLD0269 nonsynonymous TP53 c.487T>A p.Y163N Tac/Aac chr17 7578443 A T =hyperlink("http://localhost:60151/goto?locus=chr17:7578443", "IGV") high 0.834 0.898 1571 1496 pass pass 31150 31370 TP53_20 ENSG00000141510 5 of 11 TP53_g.12475T>C, TP53_g.12475T>G, TP53_g.12475T>A, TP53_g.12475del, COSM43846, COSM44623, COSM44216, COSM45194, COSM307268, COSM1522497, COSM226791, COSM307267, COSM1522498, COSM226790, COSM307269, COSM226792, COSM1522500, COSM3717662, COSM3980300, COSM3717661, COSM3980299, COSM226793, COSM1522499, COSM307270 deleterious(0) probably_damaging(1) 9 FFPE CTTGT A/T GATGG CMDL150427 FLD0245 FLD0269 nonsynonymous TP53 c.452C>T p.P151L cCc/cTc chr17 7578478 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578478", "IGV") low 0.161 1571 QD no call 1137 TP53_20 ENSG00000141510 5 of 11 TP53_g.12440C>A, TP53_g.12440C>T, TP53_g.12440C>G, COSM44003, COSM44288, COSM11476, COSM259150, COSM707868, COSM259149, COSM707869, COSM259151, COSM707871, COSM4139888, COSM3388218, COSM4139887, COSM2744918, COSM259152, COSM707870 deleterious(0.02) probably_damaging(0.998) 44 FFPE GCGGG G/A GTGTG CMDL150427 FLD0245 FLD0269 nonsynonymous TP53 c.364G>A p.V122M Gtg/Atg chr17 7579323 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579323", "IGV") medium 0.252 855 no call pass 2821 TP53_22 ENSG00000141510 4 of 11 rs587781495, TP53_g.11595G>T, COSM45917, COSM1386832, COSM1386833, COSM1386834 deleterious(0) probably_damaging(0.996) uncertain_significance 39 FFPE AGTCA C/T AGACT CMDL150427 FLD0245 FLD0269 synonymous TP53 c.336C>T c.336C>T(p.%3D) ggC/ggT chr17 7579351 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579351", "IGV") medium 0.375 855 no call pass 5394 TP53_22 ENSG00000141510 4 of 11 TP53_g.11567C>A, TP53_g.11567C>T, TP53_g.11567C>G, COSM44487 45 FFPE AAGAA G/A CCCAG CMDL150427 FLD0245 FLD0269 synonymous TP53 c.276C>T c.276C>T(p.%3D) ccC/ccT chr17 7579411 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579411", "IGV") low 0.154 636 QD no call 825 TP53_23 ENSG00000141510 4 of 11 TP53_g.11507C>T 22 FFPE GACAG G/A GGCCA CMDL150427 FLD0245 FLD0269 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.996 0.996 636 832 pass pass 18423 22967 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150427 FLD0245 FLD0269 nonsynonymous TP53 c.110C>T p.S37F tCc/tTc chr17 7579577 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579577", "IGV") medium 0.241 1253 pass no call 3802 TP53_24 ENSG00000141510 4 of 11 deleterious(0.02) benign(0.068) 30 FFPE CTTGG G/A ACGGC CMDL150427 FLD0245 FLD0269 intron TP53 c.97-45G>A chr17 7579635 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579635", "IGV") medium 0.913 612 pass no call 13189 TP53_26 ENSG00000141510 3 of 10 19 FFPE TCAGC C/T CCCCA CMDL150427 FLD0245 FLD0269 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") medium 1.000 0.993 50 135 pass pass 1244 3417 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150427 FLD0245 FLD0269 intron TP53 c.74+16G>A chr17 7579823 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579823", "IGV") low 0.240 50 pass no call 119 TP53_27 ENSG00000141510 2 of 10 26 FFPE CCTTC C/T AATGG CMDL150427 FLD0245 FLD0269 intron TP53 c.-28-18C>T chr17 7579958 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579958", "IGV") medium 0.228 1544 pass no call 3864 TP53_28 ENSG00000141510 1 of 10 7 FFPE AAGTG G/A GGATC CMDL150427 FLD0245 FLD0269 synonymous TP53 c.1110G>A c.1110G>A(p.%3D) aaG/aaA chr17 7572999 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7572999", "IGV") medium 0.554 1099 no call pass 12350 TP53_3 ENSG00000141510 11 of 11 37 FFPE TTGGA C/T TTCAG CMDL150427 FLD0245 FLD0269 intron TP53 c.1101-49C>T chr17 7573057 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573057", "IGV") medium 0.997 1099 no call pass 31500 TP53_3 ENSG00000141510 10 of 10 rs17881850 A:0.0076 26 FFPE TGAGA G/A GGTCT CMDL150427 FLD0245 FLD0269 intron TP53 c.1101-58G>A chr17 7573066 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7573066", "IGV") medium 0.550 1099 no call pass 12948 TP53_3 ENSG00000141510 10 of 10 17 FFPE CTGTG C/T CCCTT CMDL150427 FLD0245 FLD0269 intron TP53 c.1101-70C>T chr17 7573078 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573078", "IGV") medium 0.533 119 pass no call 1155 TP53_3 ENSG00000141510 10 of 10 5 FFPE TCCCT G/A ACCAA CMDL150427 FLD0245 FLD0269 synonymous TP53 c.1095C>T c.1095C>T(p.%3D) caC/caT chr17 7573932 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573932", "IGV") medium 0.268 1449 no call pass 5051 TP53_4 ENSG00000141510 10 of 11 45 FFPE CTGGA G/A TGAGC CMDL150427 FLD0245 FLD0269 intron TP53 c.993+196G>A chr17 7576657 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576657", "IGV") medium 0.973 1184 pass no call 30299 TP53_7 ENSG00000141510 9 of 10 56 FFPE CTGGT C/T CTTTA CMDL150427 FLD0245 FLD0269 synonymous TP53 c.930C>T c.930C>T(p.%3D) aaC/aaT chr17 7576916 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576916", "IGV") medium 0.580 378 no call pass 4610 TP53_8 ENSG00000141510 9 of 11 30 FFPE GTGTT G/A TTGGG CMDL150427 FLD0245 FLD0269 intron TP53 c.919+39G>A chr17 7576980 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576980", "IGV") medium 0.294 1206 pass no call 4873 TP53_9 ENSG00000141510 8 of 10 18 FFPE TGCAC C/T CTTGG CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.927 0.506 1831 1426 pass pass 53212 15257 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.36G>A p.M12I atG/atA chr6 152129083 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129083", "IGV") medium 0.298 1426 no call pass 7387 ESR1_1 ENSG00000091831 3 of 10 tolerated_low_confidence(0.2) benign(0.002) 16 FFPE GGGAT G/A GCCCT CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.660G>A p.M220I atG/atA chr6 152201806 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152201806", "IGV") low 0.154 2252 no call QD 1169 ESR1_10 ENSG00000091831 5 of 10 tolerated(1) benign(0.019) 14 FFPE TATAT G/A TGTCC CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.660G>A p.M220I atG/atA chr6 152201806 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152201806", "IGV") low 0.156 62 no call QD 33 ESR1_11 ENSG00000091831 5 of 10 tolerated(1) benign(0.019) 16 FFPE TATAT G/A TGTCC CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.705G>A c.705G>A(p.%3D) aaG/aaA chr6 152201851 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152201851", "IGV") low 0.156 62 no call QD 74 ESR1_11 ENSG00000091831 5 of 10 58 FFPE AGGAA G/A AGCTG CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") medium 0.995 1.000 783 62 pass pass 22743 1911 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.817G>A p.D273N Gat/Aat chr6 152265364 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265364", "IGV") medium 0.536 1587 no call pass 16702 ESR1_13 ENSG00000091831 6 of 10 rs775405192 tolerated(0.2) benign(0.002) 24 FFPE GAGAT G/A ATGGG CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.899G>A p.R300H cGc/cAc chr6 152265446 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265446", "IGV") medium 0.540 1587 no call pass 16364 ESR1_13 ENSG00000091831 6 of 10 rs371610514 tolerated(0.53) benign(0) 6 FFPE CAAAC G/A CTCTA CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.962 0.621 1138 1209 pass pass 30484 15894 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.1002C>T c.1002C>T(p.%3D) acC/acT chr6 152265549 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265549", "IGV") low 0.210 1138 QD no call 1662 ESR1_14 ENSG00000091831 6 of 10 23 FFPE CCTAC C/T AGACC CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.1068C>T c.1068C>T(p.%3D) caC/caT chr6 152265615 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265615", "IGV") low 0.207 2055 no call QD 3871 ESR1_15 ENSG00000091831 6 of 10 54 FFPE GTTCA C/T ATGAT CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.1083G>A c.1083G>A(p.%3D) gcG/gcA chr6 152265630 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265630", "IGV") low 0.144 2055 no call QD 385 ESR1_15 ENSG00000091831 6 of 10 rs534325705 A:0.0002 46 FFPE TGGGC G/A AAGAG CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.1116C>T c.1116C>T(p.%3D) ctC/ctT chr6 152332810 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152332810", "IGV") low 0.207 1865 no call QD 2874 ESR1_17 ENSG00000091831 7 of 10 rs767233924, COSM461875 4 FFPE ACCCT C/T CATGA CMDL150428 FLD0246 FLD0270 intron ESR1 c.1235+34G>A chr6 152332963 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152332963", "IGV") low 0.176 1572 QD no call 1858 ESR1_18 ENSG00000091831 7 of 9 39 FFPE AGCAT G/A TTCTT CMDL150428 FLD0246 FLD0270 intron ESR1 c.1235+57C>T chr6 152332986 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152332986", "IGV") medium 0.284 1572 pass no call 6119 ESR1_18 ENSG00000091831 7 of 9 16 FFPE TCATT C/T ATGAA CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.121G>A p.E41K Gag/Aag chr6 152129168 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129168", "IGV") low 0.197 811 QD no call 1488 ESR1_2 ENSG00000091831 3 of 10 tolerated(0.08) benign(0.194) 55 FFPE TGGGC G/A AGGTG CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.130C>T c.130C>T(p.%3D) Ctg/Ttg chr6 152129177 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129177", "IGV") medium 0.260 612 no call pass 1898 ESR1_2 ENSG00000091831 3 of 10 rs746329715 46 FFPE TGTAC C/T TGGAC CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.137G>A p.S46N aGc/aAc chr6 152129184 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129184", "IGV") medium 0.224 612 no call pass 1499 ESR1_2 ENSG00000091831 3 of 10 tolerated(0.18) benign(0.007) 39 FFPE GGACA G/A CAGCA CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.1336G>A p.V446M Gtg/Atg chr6 152382226 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382226", "IGV") medium 0.369 1008 no call pass 6037 ESR1_20 ENSG00000091831 8 of 10 deleterious(0.03) possibly_damaging(0.682) 56 FFPE AGTTT G/A TGTGC CMDL150428 FLD0246 FLD0270 intron ESR1 c.1369+18G>A chr6 152382277 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382277", "IGV") medium 0.275 760 pass no call 2928 ESR1_20 ENSG00000091831 8 of 9 9 FFPE CACAA G/A ATAAC CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.1392C>T c.1392C>T(p.%3D) agC/agT chr6 152415542 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415542", "IGV") medium 0.270 2366 no call pass 7682 ESR1_21 ENSG00000091831 9 of 10 58 FFPE TCCAG C/T ACCCT CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.1527C>T c.1527C>T(p.%3D) ctC/ctT chr6 152415677 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415677", "IGV") medium 0.337 939 no call pass 4405 ESR1_22 ENSG00000091831 9 of 10 19 FFPE CTCCT C/T ATCCT CMDL150428 FLD0246 FLD0270 intron ESR1 c.1553+33C>T chr6 152415736 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415736", "IGV") low 0.158 1691 QD no call 1202 ESR1_23 ENSG00000091831 9 of 9 41 FFPE AGAGA C/T ATAAA CMDL150428 FLD0246 FLD0270 intron ESR1 c.1553+61G>A chr6 152415764 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415764", "IGV") medium 0.207 1691 pass no call 3716 ESR1_23 ENSG00000091831 9 of 9 50 FFPE CCTAT G/A TGACA CMDL150428 FLD0246 FLD0270 intron ESR1 c.1553+79G>A chr6 152415782 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415782", "IGV") low 0.189 1691 QD no call 1756 ESR1_23 ENSG00000091831 9 of 9 32 FFPE GGGAA G/A GACTG CMDL150428 FLD0246 FLD0270 intron ESR1 c.1554-47C>T chr6 152419820 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152419820", "IGV") low 0.153 1294 QD no call 706 ESR1_24 ENSG00000091831 9 of 9 16 FFPE TGGGG C/T TCGGG CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.1597G>A p.V533M Gtg/Atg chr6 152419910 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152419910", "IGV") low 0.136 1494 no call QD 104 ESR1_24 ENSG00000091831 10 of 10 rs778116774, COSM239746 tolerated(0.16) benign(0.382) 12 FFPE AGAAC G/A TGGTG CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.1636G>A p.A546T Gcc/Acc chr6 152419949 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152419949", "IGV") medium 0.255 1626 pass no call 4871 ESR1_25 ENSG00000091831 10 of 10 deleterious(0) probably_damaging(0.986) 40 FFPE TGGAC G/A CCCAC CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.1690G>A p.D564N Gac/Aac chr6 152420003 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420003", "IGV") medium 0.239 1626 pass no call 4314 ESR1_25 ENSG00000091831 10 of 10 rs774794965 tolerated(0.47) benign(0) 25 FFPE AGACG G/A ACCAA CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.1704G>A c.1704G>A(p.%3D) ttG/ttA chr6 152420017 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420017", "IGV") medium 0.414 1743 no call pass 12727 ESR1_25 ENSG00000091831 10 of 10 11 FFPE CACTT G/A GCCAC CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.1765G>A p.E589K Gag/Aag chr6 152420078 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420078", "IGV") medium 0.307 1952 no call pass 8659 ESR1_26 ENSG00000091831 10 of 10 tolerated_low_confidence(0.13) benign(0.099) 53 FFPE AGGCA G/A AGGGT CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.146C>T p.P49L cCc/cTc chr6 152129193 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129193", "IGV") medium 0.757 1053 pass no call 18771 ESR1_3 ENSG00000091831 3 of 10 tolerated(0.08) benign(0.297) 48 FFPE CAAGC C/T CGCCG CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.174C>T c.174C>T(p.%3D) gcC/gcT chr6 152129221 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129221", "IGV") medium 0.748 1053 pass no call 19437 ESR1_3 ENSG00000091831 3 of 10 rs79415092 T:0.0014 41 FFPE GGCGC C/T GCCTA CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.269G>A p.G90D gGc/gAc chr6 152129316 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129316", "IGV") low 0.107 1976 QD no call 3198 ESR1_4 ENSG00000091831 3 of 10 rs746521050 tolerated(0.12) possibly_damaging(0.903) 46 FFPE GTTCG G/A CTCCA CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.270C>T c.270C>T(p.%3D) ggC/ggT chr6 152129317 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129317", "IGV") medium 0.264 2205 no call pass 7415 ESR1_4 ENSG00000091831 3 of 10 47 FFPE TTCGG C/T TCCAA CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.375C>T c.375C>T(p.%3D) ggC/ggT chr6 152129422 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129422", "IGV") low 0.143 1545 no call QD 810 ESR1_5 ENSG00000091831 3 of 10 15 FFPE CACGG C/T CAGCA CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.412G>A p.G138S Ggc/Agc chr6 152129459 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129459", "IGV") low 0.126 1280 no call QD 161 ESR1_6 ENSG00000091831 3 of 10 tolerated(0.83) benign(0.004) 9 FFPE CCAGC G/A GCTAC CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.417C>T c.417C>T(p.%3D) taC/taT chr6 152129464 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129464", "IGV") low 0.152 1280 no call QD 995 ESR1_6 ENSG00000091831 3 of 10 14 FFPE GGCTA C/T ACGGT CMDL150428 FLD0246 FLD0270 nonsynonymous ESR1 c.461C>T p.S154L tCa/tTa chr6 152163740 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163740", "IGV") low 0.161 1335 no call QD 963 ESR1_7 ENSG00000091831 4 of 10 tolerated(0.09) benign(0.062) 47 FFPE AAATT C/T AGATA CMDL150428 FLD0246 FLD0270 synonymous ESR1 c.624C>T c.624C>T(p.%3D) ttC/ttT chr6 152163903 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163903", "IGV") low 0.171 3115 no call QD 3245 ESR1_9 ENSG00000091831 4 of 10 44 FFPE GCCTT C/T TTCAA CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.25G>A p.E9K Gaa/Aaa chr3 178916638 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916638", "IGV") medium 0.352 816 pass no call 4471 PIK3CA_1 ENSG00000121879 2 of 21 deleterious(0.01) probably_damaging(0.998) 46 FFPE CAGGT G/A AACTG CMDL150428 FLD0246 FLD0270 synonymous PIK3CA c.582C>T c.582C>T(p.%3D) atC/atT chr3 178919097 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178919097", "IGV") medium 0.654 2192 pass no call 36549 PIK3CA_10 ENSG00000121879 4 of 21 42 FFPE GTGAT C/T TGGGT CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.599C>T p.P200L cCa/cTa chr3 178919114 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178919114", "IGV") medium 0.655 2192 pass no call 36681 PIK3CA_10 ENSG00000121879 4 of 21 tolerated(0.29) benign(0.007) 58 FFPE TTCTC C/T AAATA CMDL150428 FLD0246 FLD0270 stop_gained PIK3CA c.613C>T p.Q205* Cag/Tag chr3 178919128 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178919128", "IGV") medium 0.220 2192 pass no call 6548 PIK3CA_10 ENSG00000121879 4 of 21 44 FFPE ACAAG C/T AGAAG CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.709G>A p.E237K Gaa/Aaa chr3 178919224 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919224", "IGV") medium 0.587 1156 pass no call 14663 PIK3CA_11 ENSG00000121879 4 of 21 deleterious(0.02) benign(0.345) 57 FFPE CCTCT G/A AACAA CMDL150428 FLD0246 FLD0270 synonymous PIK3CA c.762G>A c.762G>A(p.%3D) gtG/gtA chr3 178919277 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919277", "IGV") low 0.639 72 no call pass 1015 PIK3CA_12 ENSG00000121879 4 of 21 15 FFPE AAAGT G/A TGTGG CMDL150428 FLD0246 FLD0270 splice_region,intron PIK3CA c.814-7C>T chr3 178921325 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178921325", "IGV") medium 0.231 1799 no call pass 4310 PIK3CA_13 ENSG00000121879 4 of 20 14 FFPE AATCT C/T TTACA CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.954G>A p.M318I atG/atA chr3 178921472 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921472", "IGV") low 0.144 1374 QD no call 379 PIK3CA_14 ENSG00000121879 5 of 21 rs199605762 tolerated(0.51) benign(0.009) 57 FFPE TATAT G/A AATGG CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.959G>A p.G320E gGa/gAa chr3 178921477 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921477", "IGV") low 0.172 973 no call QD 1044 PIK3CA_14 ENSG00000121879 5 of 21 COSM729825, COSM729824 tolerated(1) possibly_damaging(0.56) 56 FFPE GAATG G/A AGAAA CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.995G>A p.S332N aGt/aAt chr3 178921513 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921513", "IGV") low 0.134 1374 QD no call 79 PIK3CA_14 ENSG00000121879 5 of 21 tolerated(0.43) benign(0.001) 20 FFPE AAATA G/A TGCAC CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.1004G>A p.R335K aGa/aAa chr3 178921522 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921522", "IGV") medium 0.317 2543 no call pass 11191 PIK3CA_15 ENSG00000121879 5 of 21 tolerated(0.37) benign(0.003) 16 FFPE ACTCA G/A AATAA CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.1030G>A p.V344M Gtg/Atg chr3 178921548 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921548", "IGV") medium 0.315 2543 no call pass 11262 PIK3CA_15 ENSG00000121879 5 of 21 COSM253279, COSM253280 deleterious(0) probably_damaging(0.987) 35 FFPE CCTAC G/A TGAAT CMDL150428 FLD0246 FLD0270 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") medium 0.987 1.000 156 2 pass LowQual 4160 22 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 FFPE TCTTG C/A ACTAT CMDL150428 FLD0246 FLD0270 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.997 0.995 1505 1729 pass pass 41988 56290 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150428 FLD0246 FLD0270 synonymous PIK3CA c.1098C>T c.1098C>T(p.%3D) ccC/ccT chr3 178922329 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178922329", "IGV") low 0.121 1729 no call QD 411 PIK3CA_17 ENSG00000121879 6 of 21 39 FFPE GAACC C/T TTATG CMDL150428 FLD0246 FLD0270 stop_gained PIK3CA c.1120C>T p.Q374* Caa/Taa chr3 178922351 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178922351", "IGV") low 0.118 1729 no call QD 338 PIK3CA_17 ENSG00000121879 6 of 21 17 FFPE ACACT C/T AAAGA CMDL150428 FLD0246 FLD0270 synonymous PIK3CA c.76C>T c.76C>T(p.%3D) Cta/Tta chr3 178916689 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916689", "IGV") medium 0.228 1949 no call pass 5312 PIK3CA_2 ENSG00000121879 2 of 21 50 FFPE GTTTA C/T TACCA CMDL150428 FLD0246 FLD0270 synonymous PIK3CA c.96G>A c.96G>A(p.%3D) gtG/gtA chr3 178916709 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916709", "IGV") low 0.192 1901 QD no call 2977 PIK3CA_2 ENSG00000121879 2 of 21 41 FFPE ATAGT G/A ACTTT CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.1241G>A p.G414D gGt/gAt chr3 178927478 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178927478", "IGV") medium 0.207 1509 pass no call 3059 PIK3CA_20 ENSG00000121879 7 of 21 tolerated(0.18) benign(0.271) 46 FFPE AAAGG G/A TGCTA CMDL150428 FLD0246 FLD0270 splice_donor PIK3CA c.1404+1G>A chr3 178928127 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928127", "IGV") low 0.136 1000 QD no call 257 PIK3CA_23 ENSG00000121879 8 of 20 34 FFPE ATAAA G/A TAAGG CMDL150428 FLD0246 FLD0270 intron PIK3CA c.1404+17C>T chr3 178928143 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178928143", "IGV") medium 0.368 684 no call pass 4314 PIK3CA_23 ENSG00000121879 8 of 20 50 FFPE ATTGT C/T ATAAA CMDL150428 FLD0246 FLD0270 splice_region,intron PIK3CA c.1405-4T>C chr3 178928215 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178928215", "IGV") medium 0.236 1763 pass no call 12378 PIK3CA_24 ENSG00000121879 8 of 20 35 FFPE ATCTC T/C TAGGA CMDL150428 FLD0246 FLD0270 nonsynonymous,splice_region PIK3CA c.1405G>A p.E469K Gaa/Aaa chr3 178928219 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928219", "IGV") medium 0.235 1763 pass no call 12277 PIK3CA_24 ENSG00000121879 9 of 21 deleterious(0.05) benign(0.412) 39 FFPE CTTAG G/A AAACT CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.1447G>A p.V483M Gtg/Atg chr3 178928261 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928261", "IGV") medium 0.238 1763 pass no call 4002 PIK3CA_24 ENSG00000121879 9 of 21 tolerated(0.26) benign(0.021) 13 FFPE GCAGT G/A TGGTA CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.1597G>A p.A533T Gca/Aca chr3 178936055 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178936055", "IGV") low 0.141 2575 no call QD 937 PIK3CA_25 ENSG00000121879 10 of 21 tolerated(0.24) benign(0.002) 36 FFPE TCAAA G/A CAATT CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.1447G>A p.V483M Gtg/Atg chr3 178928261 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928261", "IGV") low 0.207 1710 no call QD 2917 PIK3CA_27 ENSG00000121879 9 of 21 tolerated(0.26) benign(0.021) 15 FFPE GCAGT G/A TGGTA CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.1514G>A p.G505E gGa/gAa chr3 178928328 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928328", "IGV") low 0.149 1710 no call QD 819 PIK3CA_27 ENSG00000121879 9 of 21 tolerated(0.28) benign(0.167) 23 FFPE AGCAG G/A ATTTA CMDL150428 FLD0246 FLD0270 intron PIK3CA c.1539+56G>A chr3 178928409 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928409", "IGV") low 0.144 2304 QD no call 852 PIK3CA_28 ENSG00000121879 9 of 20 36 FFPE AGGTA G/A ATACT CMDL150428 FLD0246 FLD0270 intron PIK3CA c.1539+82A>G chr3 178928435 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178928435", "IGV") high 0.747 0.562 2304 2526 pass pass 38763 29517 PIK3CA_28 ENSG00000121879 9 of 20 rs3729684 G:0.0026 10 FFPE GATCC A/G TATAT CMDL150428 FLD0246 FLD0270 intron PIK3CA c.1665-11C>T chr3 178936973 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178936973", "IGV") medium 0.234 2256 pass no call 6274 PIK3CA_29 ENSG00000121879 10 of 20 28 FFPE TGTTT C/T TCCCA CMDL150428 FLD0246 FLD0270 synonymous PIK3CA c.168C>T c.168C>T(p.%3D) taC/taT chr3 178916781 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916781", "IGV") medium 0.491 1175 no call pass 11722 PIK3CA_3 ENSG00000121879 2 of 21 rs200868796 35 FFPE AAATA C/T CCCCT CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.1732G>A p.D578N Gat/Aat chr3 178937051 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178937051", "IGV") low 0.177 410 no call QD 714 PIK3CA_30 ENSG00000121879 11 of 21 deleterious(0.01) probably_damaging(0.96) 27 FFPE CTAGA G/A ATGAA CMDL150428 FLD0246 FLD0270 splice_region,intron PIK3CA c.1912-4C>T chr3 178937733 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178937733", "IGV") low 0.146 1609 QD no call 739 PIK3CA_35 ENSG00000121879 12 of 20 rs780163478 31 FFPE ATCAC C/T TAGGT CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.2054G>A p.G685D gGc/gAc chr3 178938812 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178938812", "IGV") medium 0.208 355 no call pass 727 PIK3CA_38 ENSG00000121879 14 of 21 deleterious(0) probably_damaging(0.993) 38 FFPE GTTTG G/A CCTGC CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.229G>A p.A77T Gca/Aca chr3 178916842 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916842", "IGV") medium 0.252 804 pass no call 2477 PIK3CA_4 ENSG00000121879 2 of 21 deleterious(0) probably_damaging(0.997) 39 FFPE AAGAA G/A CAGAA CMDL150428 FLD0246 FLD0270 intron PIK3CA c.2187+35C>T chr3 178938980 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178938980", "IGV") low 0.144 1982 QD no call 264 PIK3CA_40 ENSG00000121879 14 of 20 42 FFPE CTTTT C/T ACTGC CMDL150428 FLD0246 FLD0270 intron PIK3CA c.2187+73T>C chr3 178939018 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178939018", "IGV") medium 0.388 1982 pass no call 13780 PIK3CA_40 ENSG00000121879 14 of 20 rs3729689 C:0.0224 27 FFPE GTGTA T/C ATACA CMDL150428 FLD0246 FLD0270 intron PIK3CA c.2294+12G>A chr3 178941987 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178941987", "IGV") medium 0.237 1352 pass no call 3423 PIK3CA_42 ENSG00000121879 15 of 20 34 FFPE TCTTG G/A GGGTT CMDL150428 FLD0246 FLD0270 intron PIK3CA c.2295-27C>T chr3 178942461 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178942461", "IGV") medium 0.306 701 pass no call 3245 PIK3CA_43 ENSG00000121879 15 of 20 3 FFPE GGTAC C/T TAGTA CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.2333C>T p.P778L cCa/cTa chr3 178942526 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178942526", "IGV") medium 0.590 789 no call pass 9335 PIK3CA_43 ENSG00000121879 16 of 21 deleterious(0) probably_damaging(0.997) 43 FFPE AAGGC C/T ACTGT CMDL150428 FLD0246 FLD0270 stop_gained PIK3CA c.2383C>T p.Q795* Cag/Tag chr3 178942576 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178942576", "IGV") low 0.160 1675 QD no call 1343 PIK3CA_44 ENSG00000121879 16 of 21 8 FFPE TGTTT C/T AGAAC CMDL150428 FLD0246 FLD0270 intron PIK3CA c.2416+19G>A chr3 178942628 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178942628", "IGV") low 0.190 2125 no call QD 3451 PIK3CA_44 ENSG00000121879 16 of 20 55 FFPE TTAAT G/A AGCTT CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.2533G>A p.V845M Gtg/Atg chr3 178947097 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947097", "IGV") medium 0.271 710 pass no call 2727 PIK3CA_46 ENSG00000121879 18 of 21 deleterious(0.04) possibly_damaging(0.654) 15 FFPE ACTGT G/A TGGGA CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.2537G>A p.G846E gGa/gAa chr3 178947101 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947101", "IGV") low 0.169 1966 no call QD 2365 PIK3CA_47 ENSG00000121879 18 of 21 deleterious(0) probably_damaging(1) 14 FFPE TGTGG G/A ACTTA CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.2606C>T p.A869V gCa/gTa chr3 178947170 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947170", "IGV") low 0.161 1613 QD no call 1473 PIK3CA_47 ENSG00000121879 18 of 21 deleterious(0) probably_damaging(0.953) 31 FFPE AGGTG C/T ACTGC CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.323G>A p.R108H cGt/cAt chr3 178916936 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916936", "IGV") medium 0.224 453 no call pass 1178 PIK3CA_5 ENSG00000121879 2 of 21 COSM729829, COSM27497, COSM749, COSM342716, COSM729828 deleterious(0.03) probably_damaging(0.983) 45 FFPE CAACC G/A TGAAG CMDL150428 FLD0246 FLD0270 stop_gained PIK3CA c.343C>T p.R115* Cga/Tga chr3 178916956 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916956", "IGV") medium 0.210 517 pass no call 1144 PIK3CA_5 ENSG00000121879 2 of 21 rs768659103 52 FFPE TCAAT C/T GAGAA CMDL150428 FLD0246 FLD0270 intron PIK3CA c.2785-32C>T chr3 178947981 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947981", "IGV") low 0.136 422 QD no call 142 PIK3CA_52 ENSG00000121879 19 of 20 18 FFPE TATAT C/T AAACT CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.2968G>A p.A990T Gct/Act chr3 178951913 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178951913", "IGV") medium 0.265 2796 no call pass 9049 PIK3CA_55 ENSG00000121879 21 of 21 tolerated(0.28) benign(0.01) 53 FFPE ATCTA G/A CTATT CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.3020G>A p.G1007D gGc/gAc chr3 178951965 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178951965", "IGV") medium 0.260 2796 no call pass 8591 PIK3CA_55 ENSG00000121879 21 of 21 COSM25082 tolerated(0.1) benign(0.178) 11 FFPE GCTTG G/A CTCTG CMDL150428 FLD0246 FLD0270 synonymous PIK3CA c.3075C>T c.3075C>T(p.%3D) acC/acT chr3 178952020 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178952020", "IGV") low 1.000 2 no call LowQual 22 PIK3CA_56 19420344, 23982433, 25683757, 21473780, 24711897 ENSG00000121879 21 of 21 rs17849079, COSM21451 likely_benign T:0.0407 54 FFPE AAGAC C/T CTAGC CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.3140A>G p.H1047R cAt/cGt chr3 178952085 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178952085", "IGV") medium 0.356 2131 pass no call 12849 PIK3CA_57 25710561 ENSG00000121879 21 of 21 rs121913279, COSM776, COSM775, COSM249874, COSM94987, COSM94986 tolerated(0.11) possibly_damaging(0.529) pathogenic 23 FFPE TGCAC A/G TCATG CMDL150428 FLD0246 FLD0270 intron PIK3CA c.353-71G>A chr3 178917407 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917407", "IGV") medium 0.306 1787 pass no call 8019 PIK3CA_6 ENSG00000121879 2 of 20 4 FFPE TCCCT G/A TTTGC CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.406G>A p.V136I Gta/Ata chr3 178917531 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917531", "IGV") medium 0.205 1149 pass no call 6411 PIK3CA_7 ENSG00000121879 3 of 21 tolerated(0.06) benign(0.149) 30 FFPE CAGAA G/A TACAG CMDL150428 FLD0246 FLD0270 nonsynonymous PIK3CA c.412G>A p.D138N Gac/Aac chr3 178917537 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917537", "IGV") medium 0.204 1149 pass no call 2506 PIK3CA_7 ENSG00000121879 3 of 21 tolerated(0.17) benign(0.026) 24 FFPE TACAG G/A ACTTC CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.901C>T p.P301S Cca/Tca chr17 7577037 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577037", "IGV") low 0.088 2028 QD no call 844 TP53_11 ENSG00000141510 8 of 11 TP53_g.13881del, TP53_g.13881C>T, TP53_g.13881C>A, TP53_g.13881C>G, COSM44753, COSM46137, COSM45546, COSM46227 tolerated(0.26) benign(0.009) 20 FFPE CCCTG G/A GGGCA CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.883C>T p.P295S Cct/Tct chr17 7577055 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577055", "IGV") low 0.086 2028 QD no call 748 TP53_11 ENSG00000141510 8 of 11 TP53_g.13863C>T, TP53_g.13863del, COSM44750 tolerated(0.49) benign(0.001) 38 FFPE GTGAG G/A CTCCC CMDL150428 FLD0246 FLD0270 synonymous TP53 c.849C>T c.849C>T(p.%3D) cgC/cgT chr17 7577089 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577089", "IGV") low 0.086 2411 no call QD 1813 TP53_11 ENSG00000141510 8 of 11 TP53_g.13829del, TP53_g.13829C>T, TP53_g.13829C>G, TP53_g.13829C>A, COSM43977, COSM45461, COSM44434, COSM44968 39 FFPE TCTGT G/A CGCCG CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.835G>A p.G279R Ggg/Agg chr17 7577103 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577103", "IGV") low 0.177 2028 QD no call 2499 TP53_11 ENSG00000141510 8 of 11 TP53_g.13815G>T, TP53_g.13815G>A, TP53_g.13815G>C, TP53_g.13815del, COSM44603, COSM46298, COSM43674, COSM44005, COSM417973, COSM99755, COSM1386597 deleterious(0) probably_damaging(0.999) 25 FFPE TCTCC C/T AGGAC CMDL150428 FLD0246 FLD0270 intron TP53 c.782+79C>T chr17 7577420 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577420", "IGV") low 0.078 2224 QD no call 643 TP53_13 ENSG00000141510 7 of 10 14 FFPE GGTAA G/A AGGTG CMDL150428 FLD0246 FLD0270 synonymous TP53 c.606T>C c.606T>C(p.%3D) cgT/cgC chr17 7578243 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7578243", "IGV") low 0.172 821 QD no call 761 TP53_15 ENSG00000141510 6 of 11 TP53_g.12675del, TP53_g.12675T>C, TP53_g.12675T>A, COSM45356, COSM45969, COSM1386724, COSM1386725, COSM1386727, COSM1386726 2 FFPE TCCAC A/G CGCAA CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.632C>T p.T211I aCt/aTt chr17 7578217 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578217", "IGV") low 0.202 1821 no call QD 3496 TP53_16 ENSG00000141510 6 of 11 TP53_g.12701C>A, TP53_g.12701C>G, TP53_g.12701C>T, COSM43939, COSM44661, COSM45325, COSM1386676, COSM1386677, COSM1386679, COSM3403266, COSM2744750, COSM1386678 deleterious(0.02) probably_damaging(0.96) 37 FFPE GAAAA G/A TGTTT CMDL150428 FLD0246 FLD0270 synonymous TP53 c.576G>A c.576G>A(p.%3D) caG/caA chr17 7578273 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578273", "IGV") low 0.183 968 QD no call 1373 TP53_16 ENSG00000141510 6 of 11 TP53_g.12645G>C, TP53_g.12645G>A, TP53_g.12645G>T, COSM45044, COSM44554, COSM43782, COSM1386763, COSM1564184, COSM1386764, COSM1564185, COSM1386766, COSM1564187, COSM1564186, COSM1386765 30 FFPE AGATG C/T TGAGG CMDL150428 FLD0246 FLD0270 intron TP53 c.560-19C>T chr17 7578308 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578308", "IGV") medium 0.756 1142 no call pass 21243 TP53_17 ENSG00000141510 5 of 10 54 FFPE GTGAG G/A AATCA CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.554G>A p.S185N aGc/aAc chr17 7578376 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578376", "IGV") low 0.186 2086 no call QD 3059 TP53_18 ENSG00000141510 5 of 11 rs150607408, TP53_g.12542del, TP53_g.12542G>A, TP53_g.12542G>T, COSM46036, COSM46034, COSM45698 tolerated(0.56) benign(0.004) uncertain_significance 53 FFPE CATCG C/T TATCT CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.507G>A p.M169I atG/atA chr17 7578423 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578423", "IGV") medium 0.320 1699 pass no call 8017 TP53_18 ENSG00000141510 5 of 11 TP53_g.12495G>C, TP53_g.12495G>T, TP53_g.12495G>A, COSM44126, COSM45490, COSM1745112, COSM357727, COSM1745113, COSM1745115, COSM357728, COSM357730, COSM1745117, COSM1745114, COSM1745116, COSM357729 tolerated(0.12) benign(0.056) 6 FFPE TCCGT C/T ATGTG CMDL150428 FLD0246 FLD0270 synonymous TP53 c.534C>T c.534C>T(p.%3D) caC/caT chr17 7578396 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578396", "IGV") medium 0.553 1127 pass no call 12403 TP53_19 ENSG00000141510 5 of 11 TP53_g.12522C>A, TP53_g.12522C>G, TP53_g.12522C>T, COSM11998, COSM46163, COSM44971, COSM1559479, COSM1559480, COSM1559482, COSM2148896, COSM1559481 17 FFPE TCATG G/A TGGGG CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.482C>T p.A161V gCc/gTc chr17 7578448 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578448", "IGV") medium 0.492 1064 no call pass 10186 TP53_20 ENSG00000141510 5 of 11 TP53_g.12470C>A, TP53_g.12470C>T, TP53_g.12470C>G, TP53_g.12470del, COSM45778, COSM43689, COSM11323, COSM46279, COSM318160, COSM1522493, COSM1522494, COSM318159, COSM1522496, COSM318161, COSM1522495, COSM318162 deleterious(0) probably_damaging(1) 14 FFPE AGATG G/A CCATG CMDL150428 FLD0246 FLD0270 synonymous TP53 c.433C>T c.433C>T(p.%3D) Ctg/Ttg chr17 7578497 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578497", "IGV") medium 0.339 1160 pass no call 6195 TP53_20 ENSG00000141510 5 of 11 TP53_g.12421C>G, TP53_g.12421C>T, TP53_g.12421C>A, COSM45885, COSM44056, COSM45902 57 FFPE CCACA G/A CTGCA CMDL150428 FLD0246 FLD0270 synonymous TP53 c.393C>T c.393C>T(p.%3D) aaC/aaT chr17 7578537 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578537", "IGV") low 0.212 1160 QD no call 2005 TP53_20 ENSG00000141510 5 of 11 rs769270327, TP53_g.12381C>T, TP53_g.12381C>G, TP53_g.12381C>A, COSM45978, COSM44291, COSM44138, COSM100015, COSM100018, COSM100016, COSM100017 17 FFPE ATCTT G/A TTGAG CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.382C>T p.P128S Cct/Tct chr17 7578548 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578548", "IGV") low 0.129 1970 no call QD 135 TP53_21 ENSG00000141510 5 of 11 TP53_g.12370del, TP53_g.12370C>G, TP53_g.12370C>T, COSM44396, COSM44397, COSM44734 deleterious(0.03) probably_damaging(0.987) 13 FFPE GGCAG G/A GGAGT CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.269C>T p.S90F tCc/tTc chr17 7579418 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579418", "IGV") medium 0.365 950 no call pass 6969 TP53_23 ENSG00000141510 4 of 11 TP53_g.11500C>T, TP53_g.11500C>A, COSM46099 tolerated(0.18) possibly_damaging(0.707) 29 FFPE GCCAG G/A AGGGG CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.257C>T p.A86V gCa/gTa chr17 7579430 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579430", "IGV") medium 0.370 950 no call pass 12855 TP53_23 ENSG00000141510 4 of 11 TP53_g.11488C>T, COSM44493 tolerated(0.15) benign(0.008) 41 FFPE CTGGT G/A CAGGG CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.230C>T p.P77L cCa/cTa chr17 7579457 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579457", "IGV") medium 0.485 815 pass no call 7873 TP53_23 ENSG00000141510 4 of 11 TP53_g.11461C>A, COSM562608, COSM562609, COSM562610, COSM1649365 deleterious(0.04) benign(0.169) 45 FFPE CTGCT G/A GTGCA CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.849 0.928 815 950 pass pass 17097 29084 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150428 FLD0246 FLD0270 synonymous TP53 c.204G>A c.204G>A(p.%3D) gaG/gaA chr17 7579483 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579483", "IGV") low 0.171 950 no call QD 981 TP53_23 ENSG00000141510 4 of 11 rs746814615 likely_benign 19 FFPE GCAGC C/T TCTGG CMDL150428 FLD0246 FLD0270 synonymous TP53 c.108G>A c.108G>A(p.%3D) ccG/ccA chr17 7579579 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579579", "IGV") medium 0.308 1366 pass no call 6750 TP53_24 18798306, 15450681, 21115003, 23570263, 17133269 ENSG00000141510 4 of 11 rs1800370, TP53_g.11339G>A, TP53_g.11339G>T benign T:0.0076 28 FFPE TGGGA C/T GGCAA CMDL150428 FLD0246 FLD0270 intron TP53 c.96+12G>A chr17 7579688 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579688", "IGV") low 0.704 20 no call pass 872 TP53_25 ENSG00000141510 3 of 10 rs779577884 11 FFPE CCAAC C/T CTTGT CMDL150428 FLD0246 FLD0270 intron TP53 c.96+18G>A chr17 7579682 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579682", "IGV") medium 0.543 118 no call pass 358 TP53_26 ENSG00000141510 3 of 10 56 FFPE CCCAG C/T CCAAC CMDL150428 FLD0246 FLD0270 intron TP53 c.75-12C>T chr17 7579733 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579733", "IGV") low 0.419 16 pass no call 50 TP53_26 ENSG00000141510 2 of 10 5 FFPE GACAA G/A AGCAG CMDL150428 FLD0246 FLD0270 intron TP53 c.74+41C>T chr17 7579798 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579798", "IGV") low 0.291 88 pass no call 1072 TP53_27 ENSG00000141510 2 of 10 51 FFPE GTTGG G/A GTGGG CMDL150428 FLD0246 FLD0270 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") low 0.311 0.935 88 97 pass pass 1072 2484 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.53C>T p.T18I aCa/aTa chr17 7579860 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579860", "IGV") low 0.153 2114 no call QD 933 TP53_28 ENSG00000141510 2 of 11 deleterious(0) probably_damaging(0.988) 12 FFPE AAAAT G/A TTTCC CMDL150428 FLD0246 FLD0270 intron TP53 c.-28-18C>T chr17 7579958 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579958", "IGV") medium 0.417 1521 pass no call 11232 TP53_28 ENSG00000141510 1 of 10 7 FFPE AAGTG G/A GGATC CMDL150428 FLD0246 FLD0270 splice_region,intron TP53 c.1101-7C>T chr17 7573015 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573015", "IGV") medium 0.312 764 no call pass 3586 TP53_3 ENSG00000141510 10 of 10 53 FFPE TGTAG G/A AGACA CMDL150428 FLD0246 FLD0270 intron TP53 c.1101-45C>T chr17 7573053 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573053", "IGV") medium 0.307 764 no call pass 3827 TP53_3 ENSG00000141510 10 of 10 30 FFPE TGAGT G/A AGAGG CMDL150428 FLD0246 FLD0270 intron TP53 c.1101-47C>T chr17 7573055 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573055", "IGV") medium 0.186 764 no call pass 3605 TP53_3 ENSG00000141510 10 of 10 28 FFPE AGTGA G/A AGGGT CMDL150428 FLD0246 FLD0270 intron TP53 c.1101-51C>T chr17 7573059 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573059", "IGV") low 0.182 764 no call QD 1347 TP53_3 ENSG00000141510 10 of 10 rs767047551 24 FFPE AGAGG G/A TCTGT CMDL150428 FLD0246 FLD0270 intron TP53 c.1100+14G>A chr17 7573913 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7573913", "IGV") medium 0.256 2073 no call pass 6258 TP53_4 ENSG00000141510 10 of 10 26 FFPE AGGGG C/T TGAGG CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.1081G>A p.G361R Ggg/Agg chr17 7573946 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7573946", "IGV") medium 0.258 2073 no call pass 6515 TP53_4 ENSG00000141510 10 of 11 tolerated(0.34) possibly_damaging(0.703) 38 FFPE GCTCC C/T CCCTG CMDL150428 FLD0246 FLD0270 splice_region,synonymous TP53 c.996C>T c.996C>T(p.%3D) atC/atT chr17 7574031 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7574031", "IGV") low 0.139 2786 no call QD 989 TP53_5 ENSG00000141510 10 of 11 TP53_g.16887del 36 FFPE CCACG G/A ATCTG CMDL150428 FLD0246 FLD0270 intron TP53 c.993+329G>A chr17 7576524 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576524", "IGV") low 0.171 1161 QD no call 1336 TP53_6 ENSG00000141510 9 of 10 28 FFPE ACTTA C/T AATAT CMDL150428 FLD0246 FLD0270 intron TP53 c.993+313G>A chr17 7576540 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576540", "IGV") medium 0.482 1161 pass no call 11745 TP53_6 ENSG00000141510 9 of 10 rs372821099 T:0.0002 44 FFPE ACTTA C/T GACGA CMDL150428 FLD0246 FLD0270 intron TP53 c.993+298C>T chr17 7576555 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576555", "IGV") medium 0.558 386 no call pass 4494 TP53_6 ENSG00000141510 9 of 10 52 FFPE ATCAG G/A AAGTA CMDL150428 FLD0246 FLD0270 nonsynonymous TP53 c.926C>T p.P309L cCc/cTc chr17 7576920 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576920", "IGV") medium 0.246 1514 pass no call 5467 TP53_8 ENSG00000141510 9 of 11 TP53_g.13998C>T, TP53_g.13998C>G, TP53_g.13998C>A, COSM45616 tolerated(0.06) possibly_damaging(0.796) 26 FFPE TGTTG G/A GCAGT CMDL150428 FLD0246 FLD0270 intron TP53 c.920-10T>C chr17 7576936 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7576936", "IGV") medium 0.219 1514 pass no call 4466 TP53_8 ENSG00000141510 8 of 10 10 FFPE GAAAG A/G GGCAA CMDL150428 FLD0246 FLD0270 intron TP53 c.920-13G>A chr17 7576939 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576939", "IGV") medium 0.270 1514 pass no call 5423 TP53_8 ENSG00000141510 8 of 10 7 FFPE AGAGG C/T AAGGA CMDL150428 FLD0246 FLD0270 synonymous TP53 c.924G>A c.924G>A(p.%3D) ctG/ctA chr17 7576922 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576922", "IGV") low 0.167 1653 QD no call 1559 TP53_9 ENSG00000141510 9 of 11 TP53_g.13996G>A, TP53_g.13996G>C, TP53_g.13996G>T, COSM45097, COSM45099 36 FFPE TTGGG C/T AGTGC CMDL150429 FLD0247 FLD0271 5_prime_UTR ESR1 c.-5G>A chr6 152129043 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129043", "IGV") medium 0.225 1169 no call pass 2424 ESR1_1 ENSG00000091831 3 of 10 rs778042209 40 FFPE GCCAC G/A GACCA CMDL150429 FLD0247 FLD0271 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.319 0.410 1641 1169 pass pass 7438 11752 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150429 FLD0247 FLD0271 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.996 0.995 1194 1700 pass pass 35592 53404 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150429 FLD0247 FLD0271 nonsynonymous,splice_region ESR1 c.760G>A p.G254R Ggg/Agg chr6 152201906 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152201906", "IGV") low 0.162 1700 no call QD 498 ESR1_11 ENSG00000091831 5 of 10 deleterious(0) probably_damaging(0.997) 3 FFPE AAGGT G/A GTAGG CMDL150429 FLD0247 FLD0271 intron ESR1 c.761-51G>A chr6 152265257 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265257", "IGV") low 0.132 1749 no call QD 1098 ESR1_12 ENSG00000091831 5 of 9 18 FFPE TAAAA G/A TTTAC CMDL150429 FLD0247 FLD0271 intron ESR1 c.761-45A>G chr6 152265263 A G =hyperlink("http://localhost:60151/goto?locus=chr6:152265263", "IGV") medium 0.135 1749 no call pass 4338 ESR1_12 ENSG00000091831 5 of 9 24 FFPE TTTAC A/G CGGGA CMDL150429 FLD0247 FLD0271 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.999 0.998 1410 1605 pass pass 40260 48371 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150429 FLD0247 FLD0271 synonymous ESR1 c.1782G>A c.1782G>A(p.%3D) acG/acA chr6 152420095 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420095", "IGV") high 0.480 0.703 2634 2966 pass pass 23317 48119 ESR1_26 20734064, 19693267, 18980759, 21429951, 15113403, 15157284, 19941161, 19094228, 19319135, 20375995, 19654868, 20304699, 24587880, 15268889, 17609999, 19760036, 18627768, 20172949, 24721264, 16504171, 18636479, 19175383, 20046055, 20383761, 24395301, 18385916, 19636371, 18424448, 19519176, 19860576, 19926619, 20128071, 20729390, 16199553, 23574728, 22224819, 25116933, 23805288, 24403849, 21092186, 24052609, 17498544, 16213680, 19036616, 18164902, 17509487 ENSG00000091831 10 of 10 rs2228480, CM056948, COSM3761556 A:0.1887 36 FFPE GCCAC G/A GTCTG CMDL150429 FLD0247 FLD0271 nonsynonymous ESR1 c.139A>G p.S47G Agc/Ggc chr6 152129186 A G =hyperlink("http://localhost:60151/goto?locus=chr6:152129186", "IGV") low 0.200 666 QD no call 1175 ESR1_3 ENSG00000091831 3 of 10 rs778326296 tolerated(0.1) benign(0.001) 41 FFPE ACAGC A/G GCAAG CMDL150429 FLD0247 FLD0271 nonsynonymous ESR1 c.278G>A p.G93D gGc/gAc chr6 152129325 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129325", "IGV") medium 0.255 2111 pass no call 7485 ESR1_4 ENSG00000091831 3 of 10 tolerated(0.06) benign(0.201) 44 FFPE CAACG G/A CCTGG CMDL150429 FLD0247 FLD0271 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") high 0.513 0.896 1331 1679 pass pass 13513 39735 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 FFPE TCTTG C/A ACTAT CMDL150429 FLD0247 FLD0271 intron PIK3CA c.1059+82A>G chr3 178921659 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178921659", "IGV") low 0.177 1331 QD no call 1595 PIK3CA_16 ENSG00000121879 5 of 20 30 FFPE TGTTG A/G CCTGT CMDL150429 FLD0247 FLD0271 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.340 0.535 2045 2209 pass pass 11008 23573 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150429 FLD0247 FLD0271 splice_region,intron PIK3CA c.1145+6G>A chr3 178922382 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178922382", "IGV") low 0.193 2623 no call QD 3845 PIK3CA_18 ENSG00000121879 6 of 20 36 FFPE GTAAG G/A AAGTA CMDL150429 FLD0247 FLD0271 intron PIK3CA c.1146-38T>C chr3 178927345 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178927345", "IGV") high 0.270 0.616 1504 1685 pass pass 5391 22205 PIK3CA_19 ENSG00000121879 6 of 20 rs3729682 C:0.1024 24 FFPE GACTT T/C TCTTG CMDL150429 FLD0247 FLD0271 nonsynonymous PIK3CA c.1624G>A p.E542K Gaa/Aaa chr3 178936082 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178936082", "IGV") high 0.268 0.269 2998 2886 pass pass 10832 10228 PIK3CA_25 ENSG00000121879 10 of 21 rs121913273, COSM760, COSM17442, COSM125369, COSM326157 deleterious(0.04) probably_damaging(0.96) pathogenic 17 FFPE TCTCT G/A AAATC CMDL150429 FLD0247 FLD0271 intron PIK3CA c.2015+37A>G chr3 178937877 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178937877", "IGV") high 0.328 0.239 2231 2497 pass pass 11487 6761 PIK3CA_37 ENSG00000121879 13 of 20 rs11918324 G:0.1022 41 FFPE AAGGT A/G CATAT CMDL150429 FLD0247 FLD0271 stop_gained PIK3CA c.2044C>T p.Q682* Cag/Tag chr3 178938802 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178938802", "IGV") medium 0.322 1011 no call pass 5230 PIK3CA_38 ENSG00000121879 14 of 21 28 FFPE TTAGC C/T AGAGG CMDL150429 FLD0247 FLD0271 intron PIK3CA c.2187+40C>T chr3 178938985 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178938985", "IGV") low 0.131 1310 QD no call 207 PIK3CA_40 ENSG00000121879 14 of 20 47 FFPE CACTG C/T AGTGG CMDL150429 FLD0247 FLD0271 stop_gained PIK3CA c.2349G>A p.W783* tgG/tgA chr3 178942542 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178942542", "IGV") low 0.147 2055 QD no call 1135 PIK3CA_43 ENSG00000121879 16 of 21 27 FFPE AATTG G/A GAGAA CMDL150429 FLD0247 FLD0271 intron PIK3CA c.352+40A>G chr3 178917005 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178917005", "IGV") high 0.358 0.458 1023 1406 pass pass 5544 11991 PIK3CA_5 ENSG00000121879 2 of 20 rs3729674 G:0.2734 3 FFPE ACCAT A/G AAGCT CMDL150429 FLD0247 FLD0271 stop_gained PIK3CA c.3153G>A p.W1051* tgG/tgA chr3 178952098 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178952098", "IGV") low 0.183 2699 QD no call 2544 PIK3CA_57 ENSG00000121879 21 of 21 COSM30626 36 FFPE GGCTG G/A ACAAC CMDL150429 FLD0247 FLD0271 3_prime_UTR TP53 c.*38C>T chr17 7572889 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572889", "IGV") medium 0.254 1464 no call pass 4985 TP53_1 ENSG00000141510 11 of 11 rs759018180 43 FFPE TGGGG G/A TGGGA CMDL150429 FLD0247 FLD0271 nonsynonymous TP53 c.869G>A p.R290H cGc/cAc chr17 7577069 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577069", "IGV") medium 0.224 2444 no call pass 5603 TP53_11 25105660 ENSG00000141510 8 of 11 CM065493, CM993905, rs55819519, TP53_g.13849G>T, TP53_g.13849G>A, COSM44639, COSM44017, COSM1386594 tolerated(0.6) benign(0.004) uncertain_significance T:0.0002 52 FFPE TCTTG C/T GGAGA CMDL150429 FLD0247 FLD0271 nonsynonymous TP53 c.811G>A p.E271K Gag/Aag chr17 7577127 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577127", "IGV") low 0.185 1313 no call QD 1549 TP53_12 ENSG00000141510 8 of 11 TP53_g.13791del, TP53_g.13791G>T, TP53_g.13791G>A, TP53_g.13791G>C, COSM43750, COSM10719, COSM43706, COSM131516, COSM254988, COSM165082, COSM3403256, COSM1646807, COSM1646806 deleterious(0) probably_damaging(0.999) 50 FFPE CACCT C/T AAAGC CMDL150429 FLD0247 FLD0271 intron TP53 c.783-21C>T chr17 7577176 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577176", "IGV") low 0.197 1371 QD no call 2290 TP53_12 ENSG00000141510 7 of 10 21 FFPE AAAGA G/A AAGCA CMDL150429 FLD0247 FLD0271 intron TP53 c.783-30C>T chr17 7577185 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577185", "IGV") medium 0.343 1313 no call pass 6828 TP53_12 ENSG00000141510 7 of 10 12 FFPE CAAGA G/A GCAGT CMDL150429 FLD0247 FLD0271 intron TP53 c.559+31G>A chr17 7578340 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578340", "IGV") medium 0.427 1412 no call pass 10640 TP53_18 ENSG00000141510 5 of 10 TP53_g.12578G>A 28 FFPE ACCAG C/T CCTGT CMDL150429 FLD0247 FLD0271 intron TP53 c.559+11G>A chr17 7578360 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578360", "IGV") medium 0.268 1429 pass no call 5206 TP53_18 ENSG00000141510 5 of 10 rs75343564, TP53_g.12558G>T, COSM44284 48 FFPE AGCCC C/T AGCTG CMDL150429 FLD0247 FLD0271 nonsynonymous TP53 c.524G>A p.R175H cGc/cAc chr17 7578406 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578406", "IGV") high 0.280 0.390 1429 1412 pass pass 5097 9178 TP53_18 25105660, 21264207, 24929325, 25404506 ENSG00000141510 5 of 11 CM951224, rs28934578, CM062017, TP53_g.12512G>T, TP53_g.12512G>C, TP53_g.12512G>A, COSM10718, COSM10648, COSM45416, COSM99914, COSM1679508, COSM99022, COSM1679510, COSM99023, COSM1679512, COSM3355994, COSM1640851, COSM1679509, COSM99024, COSM1679511 tolerated(0.11) benign(0.308) pathogenic 23 FFPE GGCAG C/T GCCTC CMDL150429 FLD0247 FLD0271 intron TP53 c.376-38C>T chr17 7578592 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578592", "IGV") low 0.167 1695 no call QD 1987 TP53_21 ENSG00000141510 4 of 10 13 FFPE TCAGG G/A CACAA CMDL150429 FLD0247 FLD0271 nonsynonymous TP53 c.317G>A p.S106N aGc/aAc chr17 7579370 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579370", "IGV") low 0.122 871 no call QD 38 TP53_22 ENSG00000141510 4 of 11 TP53_g.11548del, COSM46201 tolerated(0.5) benign(0.001) 26 FFPE CGTAG C/T TGCCC CMDL150429 FLD0247 FLD0271 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.998 0.995 873 868 pass pass 24823 24706 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150429 FLD0247 FLD0271 splice_region,intron TP53 c.97-7T>C chr17 7579597 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7579597", "IGV") low 0.216 142 QD no call 255 TP53_25 ENSG00000141510 3 of 10 21 FFPE TGTAG A/G TGGGT CMDL150429 FLD0247 FLD0271 intron TP53 c.75-38A>G chr17 7579759 T C =hyperlink("http://localhost:60151/goto?locus=chr17:7579759", "IGV") low 0.133 354 QD no call 169 TP53_27 ENSG00000141510 2 of 10 26 FFPE GAATT T/C TCGCT CMDL150429 FLD0247 FLD0271 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") medium 1.000 1.000 354 4 pass pass 10432 111 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150429 FLD0247 FLD0271 intron TP53 c.993+319T>C chr17 7576534 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7576534", "IGV") low 0.201 1130 no call QD 2004 TP53_6 ENSG00000141510 9 of 10 38 FFPE TTTTC A/G ACTTA CMDL150429 FLD0247 FLD0271 nonsynonymous TP53 c.952C>T p.P318S Cca/Tca chr17 7576894 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576894", "IGV") low 0.152 1934 no call QD 933 TP53_8 ENSG00000141510 9 of 11 TP53_g.14024C>T, TP53_g.14024del, TP53_g.14024C>G, COSM43887 tolerated(0.3) benign(0.021) 52 FFPE CTTTG G/A CTGGG CMDL150430 FLD0248 FLD0272 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.997 0.999 1489 1146 pass pass 42777 32738 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150430 FLD0248 FLD0272 synonymous ESR1 c.681C>T c.681C>T(p.%3D) tgC/tgT chr6 152201827 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152201827", "IGV") medium 0.442 1063 no call pass 7927 ESR1_11 ENSG00000091831 5 of 10 COSM272033 37 FFPE CAGTG C/T ACCAT CMDL150430 FLD0248 FLD0272 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.998 0.997 1541 1063 pass pass 46910 32639 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150430 FLD0248 FLD0272 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.495 0.660 1131 1141 pass pass 11075 16327 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150430 FLD0248 FLD0272 intron ESR1 c.1235+53C>T chr6 152332982 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152332982", "IGV") low 0.176 2033 no call QD 2620 ESR1_18 ENSG00000091831 7 of 9 20 FFPE TAGTT C/T ATTCA CMDL150430 FLD0248 FLD0272 intron ESR1 c.1236-61G>A chr6 152382065 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382065", "IGV") low 0.199 1260 QD no call 1628 ESR1_19 ENSG00000091831 7 of 9 5 FFPE CTTGT G/A GAAGA CMDL150430 FLD0248 FLD0272 synonymous ESR1 c.123G>A c.123G>A(p.%3D) gaG/gaA chr6 152129170 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129170", "IGV") low 0.168 772 QD no call 767 ESR1_2 ENSG00000091831 3 of 10 53 FFPE GGCGA G/A GTGTA CMDL150430 FLD0248 FLD0272 nonsynonymous ESR1 c.1295C>T p.S432L tCa/tTa chr6 152382185 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152382185", "IGV") low 0.155 1732 QD no call 1003 ESR1_20 ENSG00000091831 8 of 10 deleterious(0) possibly_damaging(0.903) 15 FFPE TACAT C/T ATCTC CMDL150430 FLD0248 FLD0272 nonsynonymous ESR1 c.188A>G p.N63S aAc/aGc chr6 152129235 A G =hyperlink("http://localhost:60151/goto?locus=chr6:152129235", "IGV") medium 0.325 747 pass no call 3849 ESR1_3 ENSG00000091831 3 of 10 rs780595074 tolerated(1) benign(0.006) 27 FFPE GTTCA A/G CGCCG CMDL150430 FLD0248 FLD0272 nonsynonymous PIK3CA c.689G>A p.R230Q cGa/cAa chr3 178919204 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919204", "IGV") medium 0.216 1960 no call pass 4173 PIK3CA_11 ENSG00000121879 4 of 21 tolerated(0.08) possibly_damaging(0.797) 38 FFPE AACTC G/A AAGTA CMDL150430 FLD0248 FLD0272 nonsynonymous PIK3CA c.1030G>A p.V344M Gtg/Atg chr3 178921548 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921548", "IGV") high 0.489 0.305 2737 2050 pass pass 25661 9003 PIK3CA_15 ENSG00000121879 5 of 21 COSM253279, COSM253280 deleterious(0) probably_damaging(0.987) 35 FFPE CCTAC G/A TGAAT CMDL150430 FLD0248 FLD0272 intron PIK3CA c.1059+20C>T chr3 178921597 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178921597", "IGV") low 0.155 1351 no call QD 168 PIK3CA_16 ENSG00000121879 5 of 20 24 FFPE TGATG C/T TTATT CMDL150430 FLD0248 FLD0272 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") medium 0.209 0.186 1472 1351 pass QD 3148 1879 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 FFPE TCTTG C/A ACTAT CMDL150430 FLD0248 FLD0272 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.760 0.478 1668 1506 pass pass 29463 13841 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150430 FLD0248 FLD0272 nonsynonymous,splice_region PIK3CA c.1249G>A p.E417K Gag/Aag chr3 178927486 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178927486", "IGV") low 0.137 2030 QD no call 323 PIK3CA_20 ENSG00000121879 7 of 21 COSM1308837, COSM1308836 tolerated(0.49) benign(0.248) 48 FFPE CTAAA G/A AGGTA CMDL150430 FLD0248 FLD0272 intron PIK3CA c.1746+17G>A chr3 178937082 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178937082", "IGV") low 0.173 1328 QD no call 1188 PIK3CA_30 ENSG00000121879 11 of 20 53 FFPE TTTGA G/A ATTAC CMDL150430 FLD0248 FLD0272 intron PIK3CA c.1747-13T>C chr3 178937346 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178937346", "IGV") high 0.277 0.207 2216 2161 pass pass 8625 4740 PIK3CA_31 ENSG00000121879 11 of 20 rs41273619 C:0.0313 43 FFPE TGTCT T/C TCTCA CMDL150430 FLD0248 FLD0272 nonsynonymous PIK3CA c.250G>A p.D84N Gat/Aat chr3 178916863 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916863", "IGV") low 0.078 1181 no call QD 123 PIK3CA_4 ENSG00000121879 2 of 21 deleterious(0) probably_damaging(1) 51 FFPE TTTTT G/A ATGAA CMDL150430 FLD0248 FLD0272 synonymous PIK3CA c.2304G>A c.2304G>A(p.%3D) gaG/gaA chr3 178942497 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178942497", "IGV") medium 0.340 1331 pass no call 6915 PIK3CA_43 ENSG00000121879 16 of 21 39 FFPE GAAGA G/A TGTCG CMDL150430 FLD0248 FLD0272 intron PIK3CA c.352+40A>G chr3 178917005 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178917005", "IGV") high 0.573 0.482 919 833 pass pass 10732 7662 PIK3CA_5 ENSG00000121879 2 of 20 rs3729674 G:0.2734 3 FFPE ACCAT A/G AAGCT CMDL150430 FLD0248 FLD0272 nonsynonymous PIK3CA c.2777A>G p.D926G gAt/gGt chr3 178947902 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178947902", "IGV") low 0.211 1572 QD no call 2917 PIK3CA_50 ENSG00000121879 19 of 21 tolerated(0.11) benign(0.077) 3 FFPE AGACG A/G TGGAC CMDL150430 FLD0248 FLD0272 splice_region,synonymous PIK3CA c.2937G>A c.2937G>A(p.%3D) agG/agA chr3 178951882 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178951882", "IGV") low 0.118 2566 no call QD 473 PIK3CA_55 ENSG00000121879 21 of 21 22 FFPE TATAG G/A TTTCA CMDL150430 FLD0248 FLD0272 nonsynonymous PIK3CA c.2959G>A p.A987T Gct/Act chr3 178951904 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178951904", "IGV") low 0.119 2566 no call QD 511 PIK3CA_55 ENSG00000121879 21 of 21 rs767952819, COSM27351 deleterious(0) probably_damaging(0.995) 44 FFPE ACAAG G/A CTTAT CMDL150430 FLD0248 FLD0272 nonsynonymous PIK3CA c.473C>T p.S158L tCa/tTa chr3 178917598 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917598", "IGV") low 0.133 1839 QD no call 141 PIK3CA_8 ENSG00000121879 3 of 21 COSM27492 deleterious(0.01) benign(0.043) 52 FFPE CAATT C/T ACCTC CMDL150430 FLD0248 FLD0272 synonymous TP53 c.867C>T c.867C>T(p.%3D) ctC/ctT chr17 7577071 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577071", "IGV") low 0.122 737 no call LowQual,QD 27 TP53_10 ENSG00000141510 8 of 11 rs778138282, TP53_g.13847C>T, TP53_g.13847del, TP53_g.13847C>G, TP53_g.13847C>A, COSM45688, COSM1386596 2 FFPE TTGCG G/A AGATT CMDL150430 FLD0248 FLD0272 nonsynonymous TP53 c.824G>A p.C275Y tGt/tAt chr17 7577114 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577114", "IGV") low 0.156 2078 QD no call 1557 TP53_11 ENSG00000141510 8 of 11 CM951234, CM076568, TP53_g.13804G>A, TP53_g.13804del, TP53_g.13804G>C, TP53_g.13804G>T, COSM10701, COSM10893, COSM45413, COSM44178, COSM165084, COSM99932, COSM1167915, COSM318164, COSM3403255, COSM3723938, COSM1637959, COSM2744531, COSM1728541 deleterious(0) probably_damaging(0.994) 14 FFPE AGGCA C/T AAACA CMDL150430 FLD0248 FLD0272 intron TP53 c.782+35G>A chr17 7577464 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577464", "IGV") low 0.177 1657 QD no call 2230 TP53_13 ENSG00000141510 7 of 10 36 FFPE CACAG C/T AGGCC CMDL150430 FLD0248 FLD0272 intron TP53 c.672+18G>A chr17 7578159 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578159", "IGV") low 0.171 1131 no call QD 1220 TP53_15 ENSG00000141510 6 of 10 rs199578278, TP53_g.12759G>C benign G:0.0014 19 FFPE GAGAC C/T CCAGT CMDL150430 FLD0248 FLD0272 nonsynonymous TP53 c.655C>T p.P219S Ccc/Tcc chr17 7578194 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578194", "IGV") low 0.181 878 QD no call 1124 TP53_15 ENSG00000141510 6 of 11 CM941330, TP53_g.12724C>A, TP53_g.12724del, TP53_g.12724C>T, COSM44076, COSM44585, COSM44854 deleterious(0) probably_damaging(1) 51 FFPE ATAGG G/A CACCA CMDL150430 FLD0248 FLD0272 nonsynonymous TP53 c.614A>G p.Y205C tAt/tGt chr17 7578235 T C =hyperlink("http://localhost:60151/goto?locus=chr17:7578235", "IGV") low 0.130 1131 no call QD 249 TP53_15 ENSG00000141510 6 of 11 TP53_g.12683A>T, TP53_g.12683A>C, TP53_g.12683A>G, COSM43947, COSM44169, COSM11351, COSM99633, COSM215720, COSM99630, COSM215719, COSM99631, COSM215721, COSM3378351, COSM3421935, COSM3421934, COSM1649393, COSM99632, COSM215722 deleterious(0) probably_damaging(0.99) 10 FFPE CCAAA T/C ACTCC CMDL150430 FLD0248 FLD0272 nonsynonymous TP53 c.580C>T p.L194F Ctt/Ttt chr17 7578269 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578269", "IGV") medium 0.430 1219 pass no call 9987 TP53_16 ENSG00000141510 6 of 11 rs587780071, TP53_g.12649C>T, TP53_g.12649del, TP53_g.12649C>A, TP53_g.12649C>G, COSM10995, COSM45330, COSM46117, COSM376381, COSM376382, COSM376384, COSM1679502, COSM376383 deleterious(0) probably_damaging(1) pathogenic 34 FFPE GATAA G/A ATGCT CMDL150430 FLD0248 FLD0272 intron TP53 c.559+31G>A chr17 7578340 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578340", "IGV") medium 0.361 1466 pass no call 8899 TP53_18 ENSG00000141510 5 of 10 TP53_g.12578G>A 28 FFPE ACCAG C/T CCTGT CMDL150430 FLD0248 FLD0272 synonymous TP53 c.1131C>T c.1131C>T(p.%3D) acC/acT chr17 7572978 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572978", "IGV") medium 0.237 1389 no call pass 3895 TP53_2 ENSG00000141510 11 of 11 TP53_g.17940C>A, TP53_g.17940del 33 FFPE CGGGA G/A GTAGA CMDL150430 FLD0248 FLD0272 synonymous TP53 c.409C>T c.409C>T(p.%3D) Ctg/Ttg chr17 7578521 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578521", "IGV") medium 0.218 985 pass no call 2146 TP53_20 ENSG00000141510 5 of 11 TP53_g.12397C>T, TP53_g.12397C>G, TP53_g.12397del, TP53_g.12397C>A, COSM44182, COSM44696, COSM45058, COSM45834 33 FFPE GGCCA G/A TTGGC CMDL150430 FLD0248 FLD0272 splice_acceptor TP53 c.376-1G>A chr17 7578555 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578555", "IGV") low 0.160 1556 QD no call 1321 TP53_21 ENSG00000141510 4 of 10 TP53_g.12363del, TP53_g.12363G>A, TP53_g.12363G>T, TP53_g.12363G>C, COSM21572, COSM6900, COSM22908, COSM45809, COSM45364, COSM1167885, COSM218537, COSM218536, COSM1167886, COSM3378369, COSM3388229, COSM2156353, COSM2744965, COSM218538, COSM1167887 20 FFPE GAGTA C/T TGTAG CMDL150430 FLD0248 FLD0272 nonsynonymous TP53 c.343C>T p.H115Y Cat/Tat chr17 7579344 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579344", "IGV") medium 0.450 807 pass no call 7029 TP53_22 ENSG00000141510 4 of 11 TP53_g.11574C>T deleterious(0.01) possibly_damaging(0.583) 52 FFPE AGAAT G/A CAAGA CMDL150430 FLD0248 FLD0272 nonsynonymous TP53 c.317G>A p.S106N aGc/aAc chr17 7579370 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579370", "IGV") low 0.128 655 no call QD 156 TP53_22 ENSG00000141510 4 of 11 TP53_g.11548del, COSM46201 tolerated(0.5) benign(0.001) 26 FFPE CGTAG C/T TGCCC CMDL150430 FLD0248 FLD0272 synonymous TP53 c.225T>C c.225T>C(p.%3D) ccT/ccC chr17 7579462 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7579462", "IGV") low 0.137 440 no call QD 229 TP53_23 ENSG00000141510 4 of 11 COSM69022 40 FFPE GGTGC A/G GGGGC CMDL150430 FLD0248 FLD0272 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.997 0.996 877 440 pass pass 24635 13517 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150430 FLD0248 FLD0272 nonsynonymous TP53 c.182A>G p.D61G gAt/gGt chr17 7579505 T C =hyperlink("http://localhost:60151/goto?locus=chr17:7579505", "IGV") low 0.130 1106 QD no call 104 TP53_24 ENSG00000141510 4 of 11 TP53_g.11413A>G, COSM46180 tolerated(0.27) benign(0.003) 12 FFPE CTTCA T/C CTGGA CMDL150430 FLD0248 FLD0272 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 0.998 0.995 387 198 pass pass 11625 5660 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150430 FLD0248 FLD0272 nonsynonymous TP53 c.1121G>A p.G374D gGt/gAt chr17 7572988 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7572988", "IGV") medium 0.274 1215 no call pass 4115 TP53_3 ENSG00000141510 11 of 11 tolerated(0.13) benign(0.157) 26 FFPE ACTGA C/T CCTTT CMDL150431 FLD0249 FLD0273 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.999 0.998 1648 1434 pass pass 48629 42666 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150431 FLD0249 FLD0273 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 1.000 0.995 1297 1080 pass pass 40299 31307 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150431 FLD0249 FLD0273 intron ESR1 c.1235+12G>A chr6 152332941 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152332941", "IGV") low 0.186 2571 QD no call 3860 ESR1_18 ENSG00000091831 7 of 9 37 FFPE GACCT G/A GCTGT CMDL150431 FLD0249 FLD0273 nonsynonymous ESR1 c.1673C>T p.A558V gCa/gTa chr6 152419986 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152419986", "IGV") low 0.182 1608 no call QD 2138 ESR1_25 ENSG00000091831 10 of 10 rs777611363 tolerated(0.25) benign(0.005) 42 FFPE AGGGG C/T ATCCG CMDL150431 FLD0249 FLD0273 synonymous ESR1 c.261G>C c.261G>C(p.%3D) gcG/gcC chr6 152129308 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152129308", "IGV") high 0.488 0.454 2533 1543 pass pass 23740 13452 ESR1_4 18449864, 17268813, 19654868, 20616674, 23805288 ENSG00000091831 3 of 10 rs746432, COSM3761555 C:0.0387 38 FFPE GCTGC G/C GCGTT CMDL150431 FLD0249 FLD0273 nonsynonymous ESR1 c.295C>T p.P99S Cca/Tca chr6 152129342 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129342", "IGV") low 0.160 1543 no call QD 760 ESR1_4 ENSG00000091831 3 of 10 rs767863538 tolerated(1) benign(0.002) 27 FFPE TCCCC C/T CACTC CMDL150431 FLD0249 FLD0273 synonymous ESR1 c.483C>T c.483C>T(p.%3D) ggC/ggT chr6 152163762 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163762", "IGV") low 0.134 1873 no call QD 243 ESR1_8 ENSG00000091831 4 of 10 14 FFPE GGTGG C/T AGAGA CMDL150431 FLD0249 FLD0273 nonsynonymous PIK3CA c.1035T>A p.N345K aaT/aaA chr3 178921553 T A =hyperlink("http://localhost:60151/goto?locus=chr3:178921553", "IGV") high 0.598 0.517 3472 2874 pass pass 43082 29242 PIK3CA_15 ENSG00000121879 5 of 21 rs121913284, COSM754, COSM132748 deleterious(0.01) probably_damaging(1) 30 FFPE GTGAA T/A GTAAA CMDL150431 FLD0249 FLD0273 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") high 0.628 0.743 1704 1197 pass pass 22771 20703 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 FFPE TCTTG C/A ACTAT CMDL150431 FLD0249 FLD0273 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.469 0.374 2401 1967 pass pass 21064 12433 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150431 FLD0249 FLD0273 nonsynonymous PIK3CA c.1173A>G p.I391M atA/atG chr3 178927410 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178927410", "IGV") medium 0.177 0.297 1667 1385 QD pass 2223 5946 PIK3CA_19 16778113, 16533766 ENSG00000121879 7 of 21 rs2230461, COSM328028 tolerated(0.53) benign(0.044) not_provided G:0.0879 30 FFPE GATAT A/G TACAT CMDL150431 FLD0249 FLD0273 synonymous PIK3CA c.1266G>A c.1266G>A(p.%3D) ttG/ttA chr3 178927988 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178927988", "IGV") low 0.156 1826 no call QD 1294 PIK3CA_21 ENSG00000121879 8 of 21 16 FFPE CCATT G/A GCATG CMDL150431 FLD0249 FLD0273 nonsynonymous PIK3CA c.1315G>A p.G439R Gga/Aga chr3 178928037 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928037", "IGV") low 0.152 1346 QD no call 405 PIK3CA_22 ENSG00000121879 8 of 21 deleterious(0.01) possibly_damaging(0.815) 48 FFPE TATCT G/A GAAAA CMDL150431 FLD0249 FLD0273 nonsynonymous PIK3CA c.1378G>A p.G460S Ggt/Agt chr3 178928100 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928100", "IGV") medium 0.217 1535 no call pass 3243 PIK3CA_23 ENSG00000121879 8 of 21 deleterious(0.01) probably_damaging(0.999) 7 FFPE CTATT G/A GTGTT CMDL150431 FLD0249 FLD0273 splice_region,intron PIK3CA c.1404+6G>A chr3 178928132 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928132", "IGV") medium 0.216 1535 no call pass 3351 PIK3CA_23 ENSG00000121879 8 of 20 39 FFPE GTAAG G/A TTTTT CMDL150431 FLD0249 FLD0273 intron PIK3CA c.1404+42G>A chr3 178928168 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928168", "IGV") low 0.141 1677 QD no call 762 PIK3CA_23 ENSG00000121879 8 of 20 41 FFPE TGGCA G/A TCAAA CMDL150431 FLD0249 FLD0273 nonsynonymous PIK3CA c.1639G>A p.E547K Gag/Aag chr3 178936097 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178936097", "IGV") low 0.089 1281 no call QD 1016 PIK3CA_26 ENSG00000121879 10 of 21 COSM29315, COSM1420863, COSM4115419, COSM1420862 deleterious(0.01) probably_damaging(0.989) 10 FFPE AGCAG G/A AGAAA CMDL150431 FLD0249 FLD0273 intron PIK3CA c.352+40A>G chr3 178917005 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178917005", "IGV") high 0.442 0.372 1336 1047 pass pass 11005 6400 PIK3CA_5 ENSG00000121879 2 of 20 rs3729674 G:0.2734 3 FFPE ACCAT A/G AAGCT CMDL150431 FLD0249 FLD0273 nonsynonymous PIK3CA c.2818C>T p.H940Y Cac/Tac chr3 178948046 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178948046", "IGV") low 0.137 2533 QD no call 285 PIK3CA_52 ENSG00000121879 20 of 21 deleterious(0) probably_damaging(0.996) 30 FFPE TGGAT C/T ACAAG CMDL150431 FLD0249 FLD0273 nonsynonymous PIK3CA c.2908G>A p.E970K Gaa/Aaa chr3 178948136 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948136", "IGV") low 0.158 1680 QD no call 1507 PIK3CA_54 ENSG00000121879 20 of 21 COSM94980, COSM94981 tolerated(0.51) benign(0.05) 47 FFPE CCCAA G/A AATGC CMDL150431 FLD0249 FLD0273 nonsynonymous PIK3CA c.3085G>A p.D1029N Gat/Aat chr3 178952030 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178952030", "IGV") low 0.127 343 QD no call 99 PIK3CA_56 ENSG00000121879 21 of 21 COSM29640, COSM36286, COSM1041521 tolerated(0.32) benign(0.103) 44 FFPE CCTTA G/A ATAAA CMDL150431 FLD0249 FLD0273 nonsynonymous TP53 c.905G>A p.G302E gGg/gAg chr17 7577033 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577033", "IGV") medium 0.277 1680 no call pass 6484 TP53_10 ENSG00000141510 8 of 11 TP53_g.13885G>A, TP53_g.13885G>C, TP53_g.13885G>T, COSM43988 tolerated(0.11) benign(0.082) 40 FFPE TGCTC C/T CTGGG CMDL150431 FLD0249 FLD0273 intron TP53 c.782+19C>T chr17 7577480 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577480", "IGV") low 0.157 2680 QD no call 1941 TP53_13 ENSG00000141510 7 of 10 TP53_g.13438C>G, COSM46130 20 FFPE GCAGG G/A TGGCA CMDL150431 FLD0249 FLD0273 nonsynonymous TP53 c.713G>A p.C238Y tGt/tAt chr17 7577568 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577568", "IGV") medium 0.192 1210 no call pass 6184 TP53_14 ENSG00000141510 7 of 11 rs730882005, CM034930, TP53_g.13350G>A, TP53_g.13350G>T, TP53_g.13350G>C, COSM43778, COSM44653, COSM11059, COSM179812, COSM99626, COSM249080, COSM99624, COSM179811, COSM249079, COSM3388191, COSM3403263, COSM2744631, COSM1649400, COSM99625, COSM179813, COSM249081 deleterious(0) probably_damaging(1) likely_pathogenic 25 FFPE TGTTA C/T ACATG CMDL150431 FLD0249 FLD0273 nonsynonymous TP53 c.711G>A p.M237I atG/atA chr17 7577570 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577570", "IGV") medium 0.192 1210 no call pass 2685 TP53_14 ENSG00000141510 7 of 11 rs587782664, CM011014, TP53_g.13348G>C, TP53_g.13348G>T, TP53_g.13348G>A, TP53_g.13348del, COSM10834, COSM44415, COSM11063, COSM99648, COSM301403, COSM1189384, COSM99646, COSM301402, COSM1189385, COSM3378348, COSM3378444, COSM1640834, COSM1640835, COSM301404, COSM99647, COSM1189386 deleterious(0) probably_damaging(0.997) likely_pathogenic 23 FFPE TTACA C/T ATGTA CMDL150431 FLD0249 FLD0273 intron TP53 c.672+18G>A chr17 7578159 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578159", "IGV") low 0.165 1212 no call QD 1078 TP53_15 ENSG00000141510 6 of 10 rs199578278, TP53_g.12759G>C benign G:0.0014 19 FFPE GAGAC C/T CCAGT CMDL150431 FLD0249 FLD0273 synonymous TP53 c.474C>T c.474C>T(p.%3D) cgC/cgT chr17 7578456 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578456", "IGV") medium 0.243 1641 pass no call 4445 TP53_20 ENSG00000141510 5 of 11 TP53_g.12462C>T, TP53_g.12462C>A, TP53_g.12462C>G, TP53_g.12462del, COSM43940, COSM43712, COSM46081, COSM4139881, COSM4139884, COSM4139886, COSM4139883, COSM4139882, COSM4139885 22 FFPE ATGGC G/A CGGAC CMDL150431 FLD0249 FLD0273 synonymous TP53 c.387C>T c.387C>T(p.%3D) gcC/gcT chr17 7578543 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578543", "IGV") low 0.118 1543 no call QD 2511 TP53_20 ENSG00000141510 5 of 11 11 FFPE TTGAG G/A GCAGG CMDL150431 FLD0249 FLD0273 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 1.000 0.996 1049 881 pass pass 34119 25157 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150431 FLD0249 FLD0273 nonsynonymous TP53 c.212C>T p.P71L cCc/cTc chr17 7579475 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579475", "IGV") low 0.199 1049 QD no call 1666 TP53_23 ENSG00000141510 4 of 11 tolerated(0.57) benign(0.004) 27 FFPE CGGGG G/A GAGCA CMDL150431 FLD0249 FLD0273 nonsynonymous TP53 c.139C>T p.P47S Ccg/Tcg chr17 7579548 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579548", "IGV") medium 0.495 1723 pass no call 17938 TP53_24 18212354, 18798306, 15450681, 19784392, 25105660, 21402718, 23586029 ENSG00000141510 4 of 11 rs1800371, CM052370, TP53_g.11370del tolerated(0.13) benign(0.003) benign A:0.0056 55 FFPE GTCCG G/A GGACA CMDL150431 FLD0249 FLD0273 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 0.993 0.997 411 324 pass pass 11996 9913 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150431 FLD0249 FLD0273 stop_gained TP53 c.949C>T p.Q317* Cag/Tag chr17 7576897 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576897", "IGV") low 0.208 1983 QD no call 3802 TP53_8 ENSG00000141510 9 of 11 rs764735889, TP53_g.14021del, TP53_g.14021C>T, TP53_g.14021C>A, COSM10786, COSM43769, COSM43573, COSM165085, COSM1630410, COSM3388166, COSM1709728, COSM1735382 49 FFPE TGGCT G/A GGGAG CMDL150432 FLD0250 FLD0274 synonymous ESR1 c.651C>T c.651C>T(p.%3D) aaC/aaT chr6 152201797 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152201797", "IGV") low 0.158 2385 QD no call 1869 ESR1_10 ENSG00000091831 5 of 10 rs75069603 T:0.0002 23 FFPE CATAA C/T GACTA CMDL150432 FLD0250 FLD0274 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.999 0.996 1309 976 pass pass 38905 33253 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150432 FLD0250 FLD0274 intron ESR1 c.761-10G>A chr6 152265298 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265298", "IGV") low 0.148 2016 QD no call 387 ESR1_12 ENSG00000091831 5 of 9 rs368922400 56 FFPE CACCT G/A TGTTT CMDL150432 FLD0250 FLD0274 synonymous ESR1 c.828C>T c.828C>T(p.%3D) ggC/ggT chr6 152265375 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265375", "IGV") low 0.193 1797 QD no call 2596 ESR1_13 ENSG00000091831 6 of 10 COSM594592 35 FFPE GAGGG C/T AGGGG CMDL150432 FLD0250 FLD0274 synonymous ESR1 c.906G>A c.906G>A(p.%3D) aaG/aaA chr6 152265453 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265453", "IGV") medium 0.246 1157 no call pass 2562 ESR1_14 ENSG00000091831 6 of 10 3 FFPE TCTAA G/A AAGAA CMDL150432 FLD0250 FLD0274 nonsynonymous ESR1 c.935C>T p.A312V gCc/gTc chr6 152265482 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265482", "IGV") low 0.202 1207 QD no call 1406 ESR1_14 ENSG00000091831 6 of 10 COSM1441232 deleterious(0.04) benign(0.002) 32 FFPE GACGG C/T CGACC CMDL150432 FLD0250 FLD0274 nonsynonymous ESR1 c.946G>A p.V316I Gtc/Atc chr6 152265493 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265493", "IGV") low 0.143 1157 no call QD 516 ESR1_14 ENSG00000091831 6 of 10 tolerated(0.75) benign(0) 43 FFPE AGATG G/A TCAGT CMDL150432 FLD0250 FLD0274 synonymous ESR1 c.1053C>T c.1053C>T(p.%3D) gaC/gaT chr6 152265600 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265600", "IGV") low 0.147 2589 QD no call 757 ESR1_15 ENSG00000091831 6 of 10 39 FFPE GCAGA C/T AGGGA CMDL150432 FLD0250 FLD0274 splice_donor ESR1 c.1096+1G>A chr6 152265644 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265644", "IGV") low 0.122 2681 no call QD 350 ESR1_15 ENSG00000091831 6 of 9 32 FFPE GCCAG G/A TAAGA CMDL150432 FLD0250 FLD0274 intron ESR1 c.1096+18A>G chr6 152265661 A G =hyperlink("http://localhost:60151/goto?locus=chr6:152265661", "IGV") low 0.119 2681 no call QD 181 ESR1_15 ENSG00000091831 6 of 9 15 FFPE AGCGC A/G GCTTT CMDL150432 FLD0250 FLD0274 nonsynonymous ESR1 c.1463A>G p.H488R cAc/cGc chr6 152415613 A G =hyperlink("http://localhost:60151/goto?locus=chr6:152415613", "IGV") medium 0.231 1177 no call pass 2735 ESR1_22 ENSG00000091831 9 of 10 deleterious(0.02) possibly_damaging(0.89) 37 FFPE GATCC A/G CCTGA CMDL150432 FLD0250 FLD0274 nonsynonymous ESR1 c.1678G>A p.V560M Gtg/Atg chr6 152419991 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152419991", "IGV") medium 0.430 1836 no call pass 14160 ESR1_25 ENSG00000091831 10 of 10 rs745984515 tolerated(0.3) benign(0.01) 37 FFPE CATCC G/A TGGAG CMDL150432 FLD0250 FLD0274 nonsynonymous ESR1 c.1715G>A p.G572D gGc/gAc chr6 152420028 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420028", "IGV") medium 0.244 2223 pass no call 6383 ESR1_26 ENSG00000091831 10 of 10 tolerated(0.11) benign(0.261) 12 FFPE TGCGG G/A CTCTA CMDL150432 FLD0250 FLD0274 nonsynonymous ESR1 c.248G>A p.G83E gGg/gAg chr6 152129295 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129295", "IGV") medium 0.337 2464 no call pass 12377 ESR1_4 ENSG00000091831 3 of 10 tolerated(0.16) benign(0.371) 25 FFPE CCCCG G/A GTCTG CMDL150432 FLD0250 FLD0274 synonymous ESR1 c.564C>T c.564C>T(p.%3D) tgC/tgT chr6 152163843 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163843", "IGV") low 0.166 2402 no call QD 2125 ESR1_8 ENSG00000091831 4 of 10 22 FFPE GTGTG C/T AATGA CMDL150432 FLD0250 FLD0274 stop_gained ESR1 c.600G>A p.W200* tgG/tgA chr6 152163879 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152163879", "IGV") medium 0.218 3685 no call pass 7487 ESR1_9 ENSG00000091831 4 of 10 20 FFPE GTCTG G/A TCCTG CMDL150432 FLD0250 FLD0274 intron PIK3CA c.1059+70A>G chr3 178921647 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178921647", "IGV") medium 0.222 1870 pass no call 4394 PIK3CA_16 ENSG00000121879 5 of 20 42 FFPE TATAC A/G GTAAT CMDL150432 FLD0250 FLD0274 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.483 0.990 1833 2165 pass pass 16641 64262 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150432 FLD0250 FLD0274 synonymous PIK3CA c.1116C>T c.1116C>T(p.%3D) aaC/aaT chr3 178922347 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178922347", "IGV") low 0.230 1833 QD no call 3400 PIK3CA_17 ENSG00000121879 6 of 21 21 FFPE GTGAA C/T ACTCA CMDL150432 FLD0250 FLD0274 intron PIK3CA c.1252-67G>A chr3 178927907 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178927907", "IGV") low 0.179 1344 no call QD 1478 PIK3CA_21 ENSG00000121879 7 of 20 11 FFPE TTTGG G/A GAAGA CMDL150432 FLD0250 FLD0274 nonsynonymous PIK3CA c.1360G>A p.D454N Gat/Aat chr3 178928082 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928082", "IGV") low 0.136 1412 QD no call 233 PIK3CA_22 ENSG00000121879 8 of 21 COSM1041486, COSM1041485 tolerated(0.09) benign(0.056) 21 FFPE TAGAA G/A ATTTG CMDL150432 FLD0250 FLD0274 synonymous PIK3CA c.1638G>A c.1638G>A(p.%3D) caG/caA chr3 178936096 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178936096", "IGV") low 0.136 1868 QD no call 364 PIK3CA_26 ENSG00000121879 10 of 21 COSM24712, COSM3205634 9 FFPE GAGCA G/A GAGAA CMDL150432 FLD0250 FLD0274 intron PIK3CA c.1747-9C>T chr3 178937350 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178937350", "IGV") high 0.310 0.257 2816 2904 pass pass 13399 9476 PIK3CA_31 ENSG00000121879 11 of 20 rs201779641 39 FFPE TTTCT C/T ATACA CMDL150432 FLD0250 FLD0274 nonsynonymous PIK3CA c.2069C>T p.S690F tCc/tTc chr3 178938827 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178938827", "IGV") medium 0.289 1045 pass no call 4488 PIK3CA_38 ENSG00000121879 14 of 21 deleterious(0) possibly_damaging(0.567) 53 FFPE GGAGT C/T CTATT CMDL150432 FLD0250 FLD0274 intron PIK3CA c.2495+16G>A chr3 178943844 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178943844", "IGV") low 0.188 2537 no call QD 3801 PIK3CA_45 ENSG00000121879 17 of 20 5 FFPE AGTAA G/A GCAAC CMDL150432 FLD0250 FLD0274 splice_region,intron PIK3CA c.2785-5G>A chr3 178948008 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948008", "IGV") low 0.186 2266 QD no call 1842 PIK3CA_51 ENSG00000121879 19 of 20 6 FFPE TTTTT G/A AAAGC CMDL150432 FLD0250 FLD0274 splice_acceptor PIK3CA c.353-1G>A chr3 178917477 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917477", "IGV") medium 0.224 1936 no call pass 4089 PIK3CA_6 ENSG00000121879 2 of 20 19 FFPE TTAAA G/A GTTTT CMDL150432 FLD0250 FLD0274 nonsynonymous TP53 c.1169C>T p.P390L cCt/cTt chr17 7572940 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572940", "IGV") medium 0.279 1033 pass no call 3604 TP53_1 ENSG00000141510 11 of 11 tolerated(0.06) benign(0.04) 28 FFPE AGTCA G/A GCCCT CMDL150432 FLD0250 FLD0274 intron TP53 c.919+23G>A chr17 7576996 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576996", "IGV") medium 0.425 1625 pass no call 13111 TP53_10 ENSG00000141510 8 of 10 rs376079415 44 FFPE TCCAC C/T GCTTC CMDL150432 FLD0250 FLD0274 splice_region,synonymous TP53 c.918A>G c.918A>G(p.%3D) cgA/cgG chr17 7577020 T C =hyperlink("http://localhost:60151/goto?locus=chr17:7577020", "IGV") low 0.131 1625 QD no call 413 TP53_10 ENSG00000141510 8 of 11 TP53_g.13898A>G, TP53_g.13898A>T, COSM43745 53 FFPE TTACC T/C CGCTT CMDL150432 FLD0250 FLD0274 splice_region,intron TP53 c.672+3C>T chr17 7578174 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578174", "IGV") low 0.155 1468 QD no call 641 TP53_15 ENSG00000141510 6 of 10 34 FFPE AACCA G/A ACCTC CMDL150432 FLD0250 FLD0274 nonsynonymous TP53 c.617T>C p.L206S tTg/tCg chr17 7578232 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7578232", "IGV") low 0.181 1468 QD no call 1768 TP53_15 ENSG00000141510 6 of 11 TP53_g.12686del, TP53_g.12686T>A, COSM43793, COSM44852, COSM1386707, COSM1610844, COSM1386708, COSM1610845, COSM1386710, COSM1610847, COSM1744595, COSM1386709, COSM1610846 tolerated(0.12) benign(0.124) 13 FFPE CATCC A/G AATAC CMDL150432 FLD0250 FLD0274 intron TP53 c.560-38G>A chr17 7578327 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578327", "IGV") low 0.216 914 no call QD 1610 TP53_17 ENSG00000141510 5 of 10 49 FFPE GGGAC C/T CTGGG CMDL150432 FLD0250 FLD0274 splice_acceptor TP53 c.1101-2A>C chr17 7573010 T G =hyperlink("http://localhost:60151/goto?locus=chr17:7573010", "IGV") low 0.175 2071 QD no call 1830 TP53_2 ENSG00000141510 10 of 10 rs587781664, CS111031, TP53_g.17908A>G, TP53_g.17908A>T, TP53_g.17908A>C, COSM1191161, COSM12663, COSM45409, COSM1386548, COSM1679487 1 FFPE GTGGC T/G GTAGG CMDL150432 FLD0250 FLD0274 synonymous TP53 c.369T>C c.369T>C(p.%3D) acT/acC chr17 7579318 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7579318", "IGV") medium 0.416 700 pass no call 5166 TP53_22 ENSG00000141510 4 of 11 TP53_g.11600del, COSM46126 34 FFPE GTGCA A/G GTCAC CMDL150432 FLD0250 FLD0274 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 1.000 0.988 521 478 pass pass 14473 13618 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150432 FLD0250 FLD0274 synonymous TP53 c.144C>T c.144C>T(p.%3D) gaC/gaT chr17 7579543 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579543", "IGV") medium 0.329 1009 no call pass 5104 TP53_24 ENSG00000141510 4 of 11 rs587781460, TP53_g.11375C>T, COSM46252 uncertain_significance 50 FFPE ATATC G/A TCCGG CMDL150432 FLD0250 FLD0274 nonsynonymous TP53 c.101C>T p.P34L cCc/cTc chr17 7579586 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579586", "IGV") medium 0.435 1766 pass no call 14347 TP53_24 ENSG00000141510 4 of 11 TP53_g.11332C>T, COSM43672 tolerated(0.23) benign(0.021) 21 FFPE GCAAG G/A GGGAC CMDL150432 FLD0250 FLD0274 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 0.994 1.000 165 130 pass pass 4450 3415 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150432 FLD0250 FLD0274 splice_region,intron TP53 c.74+8G>A chr17 7579831 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579831", "IGV") low 0.142 165 QD no call 84 TP53_27 ENSG00000141510 2 of 10 rs776933919 18 FFPE TGGAT C/T CACTC CMDL150432 FLD0250 FLD0274 synonymous TP53 c.40C>T c.40C>T(p.%3D) Ctg/Ttg chr17 7579873 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579873", "IGV") low 0.213 996 no call QD 1846 TP53_28 ENSG00000141510 2 of 11 25 FFPE ACTCA G/A AGGGG CMDL150432 FLD0250 FLD0274 stop_gained TP53 c.1123C>T p.Q375* Cag/Tag chr17 7572986 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572986", "IGV") medium 0.441 1754 no call pass 14553 TP53_3 ENSG00000141510 11 of 11 COSM307348, COSM3403253, COSM3403254, COSM1303396 24 FFPE AGACT G/A ACCCT CMDL150432 FLD0250 FLD0274 intron TP53 c.993+303T>C chr17 7576550 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7576550", "IGV") low 0.187 1004 QD no call 1352 TP53_6 ENSG00000141510 9 of 10 54 FFPE AGTTT A/G TCAGG CMDL150432 FLD0250 FLD0274 intron TP53 c.993+291G>A chr17 7576562 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576562", "IGV") low 0.182 1004 QD no call 1197 TP53_6 ENSG00000141510 9 of 10 45 FFPE AGTAA C/T ACCAT CMDL150433 FLD0251 FLD0275 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.992 0.998 1221 1953 pass pass 38749 61383 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150433 FLD0251 FLD0275 synonymous ESR1 c.657T>C c.657T>C(p.%3D) taT/taC chr6 152201803 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201803", "IGV") medium 0.396 1454 pass no call 12047 ESR1_11 ENSG00000091831 5 of 10 13 FFPE GACTA T/C ATGTG CMDL150433 FLD0251 FLD0275 nonsynonymous ESR1 c.660G>A p.M220I atG/atA chr6 152201806 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152201806", "IGV") medium 0.396 1454 pass no call 11997 ESR1_11 ENSG00000091831 5 of 10 tolerated(1) benign(0.019) 16 FFPE TATAT G/A TGTCC CMDL150433 FLD0251 FLD0275 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.999 1.000 1454 231 pass pass 52392 6660 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150433 FLD0251 FLD0275 intron ESR1 c.761-46C>T chr6 152265262 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265262", "IGV") low 0.153 1210 QD no call 684 ESR1_12 ENSG00000091831 5 of 9 rs766295948 23 FFPE GTTTA C/T ACGGG CMDL150433 FLD0251 FLD0275 intron ESR1 c.761-43G>A chr6 152265265 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265265", "IGV") low 0.135 1210 QD no call 374 ESR1_12 ENSG00000091831 5 of 9 rs202190274 A:0.0002 26 FFPE TACAC G/A GGAAA CMDL150433 FLD0251 FLD0275 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.249 0.452 1122 1358 pass pass 3016 11608 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150433 FLD0251 FLD0275 nonsynonymous ESR1 c.998C>T p.P333L cCt/cTt chr6 152265545 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265545", "IGV") low 0.145 1122 QD no call 250 ESR1_14 ENSG00000091831 6 of 10 tolerated(0.92) benign(0.001) 27 FFPE TGATC C/T TACCA CMDL150433 FLD0251 FLD0275 nonsynonymous ESR1 c.1088G>A p.R363K aGg/aAg chr6 152265635 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265635", "IGV") low 0.179 2159 QD no call 2443 ESR1_15 ENSG00000091831 6 of 10 rs367647625 tolerated(1) benign(0.044) 41 FFPE GAAGA G/A GGTGC CMDL150433 FLD0251 FLD0275 synonymous ESR1 c.120C>T c.120C>T(p.%3D) ggC/ggT chr6 152129167 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129167", "IGV") medium 0.708 907 pass no call 14050 ESR1_2 ENSG00000091831 3 of 10 56 FFPE CTGGG C/T GAGGT CMDL150433 FLD0251 FLD0275 nonsynonymous ESR1 c.124G>A p.V42M Gtg/Atg chr6 152129171 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129171", "IGV") medium 0.458 1334 no call pass 10702 ESR1_2 ENSG00000091831 3 of 10 tolerated(1) benign(0.038) 52 FFPE GCGAG G/A TGTAC CMDL150433 FLD0251 FLD0275 nonsynonymous,splice_region ESR1 c.1369G>A p.G457R Gga/Aga chr6 152382259 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382259", "IGV") medium 0.306 874 pass no call 3729 ESR1_20 ENSG00000091831 8 of 10 COSM1545069 deleterious(0.02) probably_damaging(1) 27 FFPE ATTCT G/A GTGAG CMDL150433 FLD0251 FLD0275 splice_region,intron ESR1 c.1553+7C>T chr6 152415710 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415710", "IGV") low 0.200 2460 no call QD 4481 ESR1_23 ENSG00000091831 9 of 9 15 FFPE TGAGG C/T ATCTG CMDL150433 FLD0251 FLD0275 synonymous ESR1 c.1758G>A c.1758G>A(p.%3D) ggG/ggA chr6 152420071 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420071", "IGV") low 0.174 2762 no call QD 2784 ESR1_26 ENSG00000091831 10 of 10 55 FFPE ACGGG G/A GAGGC CMDL150433 FLD0251 FLD0275 synonymous ESR1 c.1782G>A c.1782G>A(p.%3D) acG/acA chr6 152420095 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420095", "IGV") high 0.713 0.427 2200 2762 pass pass 35279 21685 ESR1_26 20734064, 19693267, 18980759, 21429951, 15113403, 15157284, 19941161, 19094228, 19319135, 20375995, 19654868, 20304699, 24587880, 15268889, 17609999, 19760036, 18627768, 20172949, 24721264, 16504171, 18636479, 19175383, 20046055, 20383761, 24395301, 18385916, 19636371, 18424448, 19519176, 19860576, 19926619, 20128071, 20729390, 16199553, 23574728, 22224819, 25116933, 23805288, 24403849, 21092186, 24052609, 17498544, 16213680, 19036616, 18164902, 17509487 ENSG00000091831 10 of 10 rs2228480, CM056948, COSM3761556 A:0.1887 36 FFPE GCCAC G/A GTCTG CMDL150433 FLD0251 FLD0275 nonsynonymous ESR1 c.524C>T p.A175V gCt/gTt chr6 152163803 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163803", "IGV") low 0.149 1873 QD no call 1040 ESR1_8 ENSG00000091831 4 of 10 tolerated(0.21) benign(0.014) 55 FFPE TATGG C/T TATGG CMDL150433 FLD0251 FLD0275 nonsynonymous ESR1 c.568G>A p.D190N Gac/Aac chr6 152163847 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152163847", "IGV") low 0.185 1873 QD no call 2542 ESR1_8 ENSG00000091831 4 of 10 COSM1568008 deleterious(0) probably_damaging(1) 18 FFPE GCAAT G/A ACTAT CMDL150433 FLD0251 FLD0275 nonsynonymous ESR1 c.605G>A p.C202Y tGt/tAt chr6 152163884 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152163884", "IGV") low 0.212 3540 no call QD 7054 ESR1_9 ENSG00000091831 4 of 10 deleterious(0) probably_damaging(1) 25 FFPE GTCCT G/A TGAGG CMDL150433 FLD0251 FLD0275 nonsynonymous ESR1 c.635G>A p.S212N aGt/aAt chr6 152163914 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152163914", "IGV") low 0.140 3187 QD no call 362 ESR1_9 ENSG00000091831 4 of 10 deleterious(0) probably_damaging(0.999) 55 FFPE GAGAA G/A TATTC CMDL150433 FLD0251 FLD0275 nonsynonymous PIK3CA c.8C>T p.P3L cCa/cTa chr3 178916621 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916621", "IGV") medium 0.203 1489 pass no call 3071 PIK3CA_1 ENSG00000121879 2 of 21 deleterious_low_confidence(0) probably_damaging(0.997) 48 FFPE GCCTC C/T ACGAC CMDL150433 FLD0251 FLD0275 nonsynonymous PIK3CA c.733G>A p.E245K Gaa/Aaa chr3 178919248 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919248", "IGV") low 0.169 1862 QD no call 1958 PIK3CA_11 ENSG00000121879 4 of 21 deleterious(0.02) possibly_damaging(0.811) 33 FFPE TTTTA G/A AATAT CMDL150433 FLD0251 FLD0275 nonsynonymous PIK3CA c.1022C>T p.A341V gCa/gTa chr3 178921540 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178921540", "IGV") medium 0.264 2793 pass no call 9981 PIK3CA_15 ENSG00000121879 5 of 21 COSM29613, COSM1420785 deleterious(0.03) possibly_damaging(0.904) 34 FFPE TTGTG C/T AACCT CMDL150433 FLD0251 FLD0275 synonymous PIK3CA c.1050C>T c.1050C>T(p.%3D) gaC/gaT chr3 178921568 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178921568", "IGV") low 0.157 2793 QD no call 2103 PIK3CA_15 ENSG00000121879 5 of 21 rs750219461 15 FFPE CGAGA C/T ATTGA CMDL150433 FLD0251 FLD0275 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") low 0.324 68 pass no call 312 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 FFPE TCTTG C/A ACTAT CMDL150433 FLD0251 FLD0275 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.427 0.286 1418 1950 pass pass 10987 7502 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150433 FLD0251 FLD0275 nonsynonymous PIK3CA c.1115A>G p.N372S aAc/aGc chr3 178922346 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178922346", "IGV") low 0.138 1418 QD no call 206 PIK3CA_17 ENSG00000121879 6 of 21 tolerated(0.44) benign(0.079) 22 FFPE TGTGA A/G CACTC CMDL150433 FLD0251 FLD0275 nonsynonymous PIK3CA c.1124G>A p.R375K aGa/aAa chr3 178922355 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178922355", "IGV") low 0.145 1950 no call QD 776 PIK3CA_17 ENSG00000121879 6 of 21 tolerated(0.32) possibly_damaging(0.625) 13 FFPE TCAAA G/A AGTAC CMDL150433 FLD0251 FLD0275 intron PIK3CA c.1145+36A>G chr3 178922412 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178922412", "IGV") medium 0.214 1341 no call pass 3031 PIK3CA_18 ENSG00000121879 6 of 20 6 FFPE AGGTT A/G TATTA CMDL150433 FLD0251 FLD0275 intron PIK3CA c.1146-29T>C chr3 178927354 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178927354", "IGV") low 0.126 1448 no call QD 46 PIK3CA_19 ENSG00000121879 6 of 20 33 FFPE TGATG T/C ATTAT CMDL150433 FLD0251 FLD0275 nonsynonymous PIK3CA c.1333C>T p.L445F Ctt/Ttt chr3 178928055 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178928055", "IGV") low 0.158 745 QD no call 675 PIK3CA_22 ENSG00000121879 8 of 21 deleterious(0.01) probably_damaging(0.993) 48 FFPE TGAAT C/T TTTGG CMDL150433 FLD0251 FLD0275 stop_gained PIK3CA c.1338G>A p.W446* tgG/tgA chr3 178928060 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928060", "IGV") medium 0.284 1240 no call pass 4396 PIK3CA_22 ENSG00000121879 8 of 21 COSM327060, COSM327061 43 FFPE CTTTG G/A CCAGT CMDL150433 FLD0251 FLD0275 intron PIK3CA c.1539+76G>A chr3 178928429 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928429", "IGV") medium 0.288 2720 no call pass 11170 PIK3CA_28 ENSG00000121879 9 of 20 16 FFPE GAAAA G/A GATCC CMDL150433 FLD0251 FLD0275 synonymous PIK3CA c.145C>T c.145C>T(p.%3D) Cta/Tta chr3 178916758 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916758", "IGV") low 0.190 2440 QD no call 3382 PIK3CA_3 ENSG00000121879 2 of 21 12 FFPE ATGAA C/T TATTT CMDL150433 FLD0251 FLD0275 intron PIK3CA c.2187+30C>T chr3 178938975 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178938975", "IGV") low 0.160 797 no call QD 454 PIK3CA_40 ENSG00000121879 14 of 20 rs202059479 37 FFPE AGACT C/T TTTTC CMDL150433 FLD0251 FLD0275 intron PIK3CA c.2187+42G>A chr3 178938987 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178938987", "IGV") low 0.122 1122 QD no call 57 PIK3CA_40 ENSG00000121879 14 of 20 rs745623203 49 FFPE CTGCA G/A TGGGG CMDL150433 FLD0251 FLD0275 intron PIK3CA c.2188-21C>T chr3 178941848 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178941848", "IGV") medium 0.206 2189 pass no call 4700 PIK3CA_41 ENSG00000121879 14 of 20 rs141065099 T:0.0030 39 FFPE TGTGA C/T TATCC CMDL150433 FLD0251 FLD0275 nonsynonymous PIK3CA c.2275C>T p.H759Y Cat/Tat chr3 178941956 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178941956", "IGV") medium 0.508 1277 pass no call 13268 PIK3CA_42 ENSG00000121879 15 of 21 tolerated(0.94) benign(0.004) 45 FFPE CTGCT C/T ATCAA CMDL150433 FLD0251 FLD0275 nonsynonymous PIK3CA c.2567C>T p.T856I aCt/aTt chr3 178947131 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947131", "IGV") low 0.143 2153 no call QD 932 PIK3CA_47 ENSG00000121879 18 of 21 deleterious(0) probably_damaging(0.999) 44 FFPE TCACA C/T TATTA CMDL150433 FLD0251 FLD0275 intron PIK3CA c.2785-46G>A chr3 178947967 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947967", "IGV") medium 0.236 2040 pass no call 5164 PIK3CA_51 ENSG00000121879 19 of 20 rs760644069 47 FFPE ATTTT G/A TATCT CMDL150433 FLD0251 FLD0275 synonymous PIK3CA c.2904C>T c.2904C>T(p.%3D) gcC/gcT chr3 178948132 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178948132", "IGV") medium 0.328 2286 no call pass 11307 PIK3CA_53 ENSG00000121879 20 of 21 17 FFPE GGAGC C/T CAAGA CMDL150433 FLD0251 FLD0275 splice_region,synonymous PIK3CA c.2934G>A c.2934G>A(p.%3D) gaG/gaA chr3 178948162 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948162", "IGV") low 0.135 1477 QD no call 411 PIK3CA_54 ENSG00000121879 20 of 21 rs755480867 40 FFPE TTTGA G/A AGGTG CMDL150433 FLD0251 FLD0275 nonsynonymous PIK3CA c.3050A>G p.D1017G gAt/gGt chr3 178951995 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178951995", "IGV") low 0.500 4 no call pass 50 PIK3CA_56 ENSG00000121879 21 of 21 COSM1420959, COSM328024, COSM1420958 deleterious(0) probably_damaging(0.94) 35 FFPE TTTTG A/G TGACA CMDL150433 FLD0251 FLD0275 nonsynonymous PIK3CA c.3058G>A p.A1020T Gca/Aca chr3 178952003 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178952003", "IGV") low 0.500 4 no call pass 50 PIK3CA_56 ENSG00000121879 21 of 21 COSM1420967, COSM1420966 tolerated(0.22) benign(0.256) 43 FFPE ACATT G/A CATAC CMDL150433 FLD0251 FLD0275 nonsynonymous PIK3CA c.3140A>T p.H1047L cAt/cTt chr3 178952085 A T =hyperlink("http://localhost:60151/goto?locus=chr3:178952085", "IGV") high 0.356 0.358 2218 2733 pass pass 13009 15500 PIK3CA_57 25710561 ENSG00000121879 21 of 21 rs121913279, COSM776, COSM775, COSM249874, COSM94987, COSM94986 tolerated(0.44) benign(0.085) pathogenic 23 FFPE TGCAC A/T TCATG CMDL150433 FLD0251 FLD0275 stop_gained PIK3CA c.3171G>A p.W1057* tgG/tgA chr3 178952116 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178952116", "IGV") low 0.187 2218 QD no call 2379 PIK3CA_57 ENSG00000121879 21 of 21 COSM29316 54 FFPE GATTG G/A ATCTT CMDL150433 FLD0251 FLD0275 nonsynonymous PIK3CA c.511G>A p.V171I Gta/Ata chr3 178917636 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917636", "IGV") medium 0.495 1929 no call pass 18228 PIK3CA_8 ENSG00000121879 3 of 21 tolerated(0.8) benign(0.014) 14 FFPE CAAAT G/A TAGAA CMDL150433 FLD0251 FLD0275 3_prime_UTR TP53 c.*1C>T chr17 7572926 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572926", "IGV") low 0.126 1234 no call LowQual,QD 26 TP53_1 ENSG00000141510 11 of 11 42 FFPE AGAAT G/A TCAGT CMDL150433 FLD0251 FLD0275 nonsynonymous TP53 c.853G>A p.E285K Gag/Aag chr17 7577085 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577085", "IGV") high 0.564 0.609 2117 2671 pass pass 24207 33787 TP53_11 ENSG00000141510 8 of 11 CM995136, rs112431538, TP53_g.13833G>A, TP53_g.13833del, TP53_g.13833G>C, TP53_g.13833G>T, COSM44388, COSM10722, COSM45138, COSM45600, COSM137087, COSM254990, COSM3717625, COSM3932742, COSM1649345, COSM1649344 deleterious(0) probably_damaging(0.985) 43 FFPE TTCCT C/T TGTGC CMDL150433 FLD0251 FLD0275 nonsynonymous TP53 c.853G>A p.E285K Gag/Aag chr17 7577085 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577085", "IGV") high 0.625 0.302 1310 1199 pass pass 17799 5443 TP53_12 ENSG00000141510 8 of 11 CM995136, rs112431538, TP53_g.13833G>A, TP53_g.13833del, TP53_g.13833G>C, TP53_g.13833G>T, COSM44388, COSM10722, COSM45138, COSM45600, COSM137087, COSM254990, COSM3717625, COSM3932742, COSM1649345, COSM1649344 deleterious(0) probably_damaging(0.985) 8 FFPE TTCCT C/T TGTGC CMDL150433 FLD0251 FLD0275 nonsynonymous TP53 c.844C>T p.R282W Cgg/Tgg chr17 7577094 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577094", "IGV") low 0.159 1199 no call QD 1420 TP53_12 25105660, 25404506, 22536362 ENSG00000141510 8 of 11 CM920678, CM056413, rs28934574, TP53_g.13824C>A, TP53_g.13824C>G, TP53_g.13824C>T, TP53_g.13824del, COSM43813, COSM10704, COSM10992, COSM44918, COSM99925, COSM99934, COSM3378339, COSM3675520, COSM1725698, COSM1636702 deleterious(0) probably_damaging(0.997) likely_benign,pathogenic 17 FFPE GCGCC G/A GTCTC CMDL150433 FLD0251 FLD0275 splice_region,intron TP53 c.783-8C>T chr17 7577163 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577163", "IGV") medium 0.388 1310 pass no call 8555 TP53_12 ENSG00000141510 7 of 10 34 FFPE ACTCA G/A GATAG CMDL150433 FLD0251 FLD0275 synonymous TP53 c.591G>A c.591G>A(p.%3D) gtG/gtA chr17 7578258 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578258", "IGV") medium 0.899 934 pass no call 19330 TP53_17 ENSG00000141510 6 of 11 TP53_g.12660G>T, TP53_g.12660G>A, COSM44845 4 FFPE CCTTC C/T ACTCG CMDL150433 FLD0251 FLD0275 nonsynonymous TP53 c.530C>T p.P177L cCc/cTc chr17 7578400 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578400", "IGV") low 0.192 1233 no call QD 1750 TP53_19 ENSG00000141510 5 of 11 rs751477326, CM102507, TP53_g.12518C>A, TP53_g.12518C>T, TP53_g.12518C>G, COSM44097, COSM10651, COSM45326, COSM117224, COSM1709731, COSM117221, COSM1709733, COSM1709735, COSM117222, COSM3522698, COSM1709732, COSM1640849, COSM117223, COSM1709734 deleterious(0) probably_damaging(0.989) 21 FFPE GGTGG G/A GGCAG CMDL150433 FLD0251 FLD0275 synonymous TP53 c.504C>T c.504C>T(p.%3D) caC/caT chr17 7578426 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578426", "IGV") low 0.201 1143 QD no call 2066 TP53_19 ENSG00000141510 5 of 11 rs746293837, TP53_g.12492del, TP53_g.12492C>G, TP53_g.12492C>A, TP53_g.12492C>T, COSM45479, COSM46299, COSM44663 47 FFPE GTCAT G/A TGCTG CMDL150433 FLD0251 FLD0275 synonymous TP53 c.372C>T c.372C>T(p.%3D) tgC/tgT chr17 7579315 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579315", "IGV") medium 0.441 696 pass no call 5580 TP53_22 ENSG00000141510 4 of 11 TP53_g.11603C>A, TP53_g.11603C>G, COSM69020, COSM326716, COSM326718, COSM326717, COSM3388233, COSM3388232 31 FFPE ACCGT G/A CAAGT CMDL150433 FLD0251 FLD0275 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 1.000 0.994 578 695 pass pass 18953 19539 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150433 FLD0251 FLD0275 nonsynonymous TP53 c.206C>T p.A69V gCt/gTt chr17 7579481 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579481", "IGV") medium 0.280 578 pass no call 2525 TP53_23 ENSG00000141510 4 of 11 rs756233241, TP53_g.11437C>G, TP53_g.11437C>A, TP53_g.11437C>T, TP53_g.11437del, COSM43803, COSM44680 tolerated(0.37) benign(0.185) 21 FFPE GAGCA G/A CCTCT CMDL150433 FLD0251 FLD0275 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 1.000 1.000 131 433 pass pass 3225 15695 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150433 FLD0251 FLD0275 intron TP53 c.74+22G>A chr17 7579817 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579817", "IGV") medium 0.403 433 no call pass 3341 TP53_27 ENSG00000141510 2 of 10 rs780218773 32 FFPE GCCTG C/T CCTTC CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.998 0.995 1499 1871 pass pass 40946 61751 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150434 FLD0252 FLD0276 intron ESR1 c.644-66C>T chr6 152201724 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152201724", "IGV") low 0.124 2194 QD no call 63 ESR1_10 ENSG00000091831 4 of 9 22 FFPE GGTTT C/T CCTGT CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.998 1.000 1354 244 pass pass 48173 10268 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.734G>A p.C245Y tGc/tAc chr6 152201880 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152201880", "IGV") medium 0.832 244 no call pass 8249 ESR1_11 ENSG00000091831 5 of 10 deleterious(0) probably_damaging(0.998) 29 FFPE TAAAT G/A CTACG CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.742G>A p.V248M Gtg/Atg chr6 152201888 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152201888", "IGV") medium 0.816 244 no call pass 4294 ESR1_11 ENSG00000091831 5 of 10 deleterious(0.01) probably_damaging(0.942) 21 FFPE ACGAA G/A TGGGA CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.753G>A p.M251I atG/atA chr6 152201899 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152201899", "IGV") medium 0.850 1354 pass no call 26788 ESR1_11 ENSG00000091831 5 of 10 deleterious(0.02) benign(0.019) 10 FFPE ATGAT G/A AAAGG CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.767G>A p.R256Q cGa/cAa chr6 152265314 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265314", "IGV") low 0.138 1098 LowQual,QD no call 24 ESR1_12 ENSG00000091831 6 of 10 rs781741770, COSM298658 deleterious(0) probably_damaging(0.998) 40 FFPE GATAC G/A AAAAG CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.804G>A c.804G>A(p.%3D) aaG/aaA chr6 152265351 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265351", "IGV") medium 0.233 1635 pass no call 4200 ESR1_13 ENSG00000091831 6 of 10 rs773053713 11 FFPE CACAA G/A CGCCA CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.883C>T p.P295S Ccg/Tcg chr6 152265430 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265430", "IGV") medium 0.362 1553 no call pass 9255 ESR1_13 ENSG00000091831 6 of 10 rs770670276 tolerated(0.08) benign(0.014) 22 FFPE CAAGC C/T CGCTC CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.899G>A p.R300H cGc/cAc chr6 152265446 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265446", "IGV") low 0.183 1553 no call QD 1659 ESR1_13 ENSG00000091831 6 of 10 rs371610514 tolerated(0.53) benign(0) 6 FFPE CAAAC G/A CTCTA CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.942G>A c.942G>A(p.%3D) caG/caA chr6 152265489 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265489", "IGV") medium 0.340 957 pass no call 4912 ESR1_14 ENSG00000091831 6 of 10 39 FFPE GACCA G/A ATGGT CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.972C>T c.972C>T(p.%3D) ccC/ccT chr6 152265519 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265519", "IGV") low 0.192 1244 no call QD 1745 ESR1_14 ENSG00000091831 6 of 10 53 FFPE GAGCC C/T CCGAT CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.997 0.994 957 1244 pass pass 26446 37625 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.1066C>T p.H356Y Cac/Tac chr6 152265613 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265613", "IGV") low 0.184 2098 no call QD 2589 ESR1_15 ENSG00000091831 6 of 10 deleterious(0.01) probably_damaging(0.999) 52 FFPE TGGTT C/T ACATG CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.1090G>A p.V364M Gtg/Atg chr6 152265637 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265637", "IGV") medium 0.352 1885 pass no call 11769 ESR1_15 ENSG00000091831 6 of 10 rs751068624 deleterious(0) probably_damaging(0.997) 39 FFPE AGAGG G/A TGCCA CMDL150434 FLD0252 FLD0276 nonsynonymous,splice_region ESR1 c.1096G>A p.G366S Ggc/Agc chr6 152265643 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265643", "IGV") medium 0.292 2098 no call pass 7996 ESR1_15 ENSG00000091831 6 of 10 deleterious(0) probably_damaging(0.998) 33 FFPE TGCCA G/A GTAAG CMDL150434 FLD0252 FLD0276 splice_region,intron ESR1 c.1096+5G>A chr6 152265648 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265648", "IGV") medium 0.351 1885 pass no call 11554 ESR1_15 ENSG00000091831 6 of 9 28 FFPE GGTAA G/A AATGC CMDL150434 FLD0252 FLD0276 intron ESR1 c.1097-43C>T chr6 152332748 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152332748", "IGV") low 0.164 1915 no call QD 1305 ESR1_16 ENSG00000091831 6 of 9 24 FFPE TGAGT C/T TTTTT CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.1224G>A c.1224G>A(p.%3D) ttG/ttA chr6 152332918 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152332918", "IGV") low 0.144 2265 QD no call 380 ESR1_17 ENSG00000091831 7 of 10 1 FFPE AACTT G/A CTCTT CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.1227C>T c.1227C>T(p.%3D) ctC/ctT chr6 152332921 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152332921", "IGV") medium 0.566 2472 pass no call 27631 ESR1_18 ENSG00000091831 7 of 10 17 FFPE TTGCT C/T TTGGA CMDL150434 FLD0252 FLD0276 intron ESR1 c.1235+12G>A chr6 152332941 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152332941", "IGV") medium 0.381 1557 no call pass 10095 ESR1_18 ENSG00000091831 7 of 9 37 FFPE GACCT G/A GCTGT CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.1263G>A p.M421I atG/atA chr6 152382153 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382153", "IGV") medium 0.300 739 no call pass 3133 ESR1_19 ENSG00000091831 8 of 10 tolerated(1) benign(0.061) 27 FFPE GGCAT G/A GTGGA CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.1272C>T c.1272C>T(p.%3D) atC/atT chr6 152382162 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152382162", "IGV") low 0.167 739 no call QD 810 ESR1_19 ENSG00000091831 8 of 10 18 FFPE GAGAT C/T TTCGA CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.77T>C p.L26P cTg/cCg chr6 152129124 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129124", "IGV") medium 0.234 567 no call pass 1536 ESR1_2 ENSG00000091831 3 of 10 deleterious(0) possibly_damaging(0.883) 27 FFPE GCCCC T/C GAACC CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.110G>A p.R37Q cGg/cAg chr6 152129157 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129157", "IGV") low 0.152 1028 QD no call 630 ESR1_2 ENSG00000091831 3 of 10 tolerated(0.14) benign(0.097) 60 FFPE GGAGC G/A GCCCC CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.121G>A p.E41K Gag/Aag chr6 152129168 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129168", "IGV") medium 0.257 1028 pass no call 2887 ESR1_2 ENSG00000091831 3 of 10 tolerated(0.08) benign(0.194) 55 FFPE TGGGC G/A AGGTG CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.1318C>T c.1318C>T(p.%3D) Ctg/Ttg chr6 152382208 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152382208", "IGV") medium 0.591 859 no call pass 20198 ESR1_20 ENSG00000091831 8 of 10 38 FFPE TGAAT C/T TGCAG CMDL150434 FLD0252 FLD0276 stop_gained ESR1 c.1321C>T p.Q441* Cag/Tag chr6 152382211 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152382211", "IGV") medium 0.588 859 no call pass 11991 ESR1_20 ENSG00000091831 8 of 10 41 FFPE ATCTG C/T AGGGA CMDL150434 FLD0252 FLD0276 intron ESR1 c.1370-26C>T chr6 152415494 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415494", "IGV") low 0.156 2287 no call QD 1460 ESR1_21 ENSG00000091831 8 of 9 10 FFPE TCTCT C/T TCTCA CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.1388C>T p.S463F tCc/tTc chr6 152415538 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415538", "IGV") low 0.152 2287 no call QD 785 ESR1_21 ENSG00000091831 9 of 10 COSM3621514 deleterious(0) probably_damaging(0.977) 54 FFPE TCTGT C/T CAGCA CMDL150434 FLD0252 FLD0276 stop_gained ESR1 c.1429C>T p.R477* Cga/Tga chr6 152415579 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415579", "IGV") low 0.178 1122 QD no call 1109 ESR1_22 ENSG00000091831 9 of 10 rs762742833, COSM3859177 3 FFPE TCCAC C/T GAGTC CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.1430G>A p.R477Q cGa/cAa chr6 152415580 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415580", "IGV") low 0.188 1122 QD no call 954 ESR1_22 ENSG00000091831 9 of 10 rs570661763 tolerated(0.22) benign(0.032) A:0.0004 4 FFPE CCACC G/A AGTCC CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.1515C>T c.1515C>T(p.%3D) gcC/gcT chr6 152415665 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415665", "IGV") low 0.135 1122 QD no call 69 ESR1_22 ENSG00000091831 9 of 10 31 FFPE CTGGC C/T CAGCT CMDL150434 FLD0252 FLD0276 intron ESR1 c.1553+10C>T chr6 152415713 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415713", "IGV") medium 0.414 1926 no call pass 13842 ESR1_23 ENSG00000091831 9 of 9 rs769576266 18 FFPE GGCAT C/T TGTGG CMDL150434 FLD0252 FLD0276 intron ESR1 c.1554-47C>T chr6 152419820 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152419820", "IGV") low 0.145 1531 QD no call 169 ESR1_24 ENSG00000091831 9 of 9 16 FFPE TGGGG C/T TCGGG CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.1587G>A c.1587G>A(p.%3D) aaG/aaA chr6 152419900 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152419900", "IGV") medium 0.293 1347 no call pass 5452 ESR1_24 ENSG00000091831 10 of 10 22 FFPE ATGAA G/A TGCAA CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.1603C>T p.P535S Ccc/Tcc chr6 152419916 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152419916", "IGV") low 0.160 1347 no call QD 954 ESR1_24 ENSG00000091831 10 of 10 deleterious(0) probably_damaging(0.965) 6 FFPE TGGTG C/T CCCTC CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.1617G>A c.1617G>A(p.%3D) ctG/ctA chr6 152419930 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152419930", "IGV") low 0.144 1963 no call QD 353 ESR1_25 ENSG00000091831 10 of 10 21 FFPE GACCT G/A CTGCT CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.1689G>A c.1689G>A(p.%3D) acG/acA chr6 152420002 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420002", "IGV") low 0.151 2066 QD no call 1078 ESR1_25 ENSG00000091831 10 of 10 rs147982903 26 FFPE GAGAC G/A GACCA CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.1690G>A p.D564N Gac/Aac chr6 152420003 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420003", "IGV") low 0.169 1963 no call QD 1647 ESR1_25 ENSG00000091831 10 of 10 rs774794965 tolerated(0.47) benign(0) 25 FFPE AGACG G/A ACCAA CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.1782G>A c.1782G>A(p.%3D) acG/acA chr6 152420095 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420095", "IGV") high 0.604 0.382 2583 2556 pass pass 32931 16412 ESR1_26 20734064, 19693267, 18980759, 21429951, 15113403, 15157284, 19941161, 19094228, 19319135, 20375995, 19654868, 20304699, 24587880, 15268889, 17609999, 19760036, 18627768, 20172949, 24721264, 16504171, 18636479, 19175383, 20046055, 20383761, 24395301, 18385916, 19636371, 18424448, 19519176, 19860576, 19926619, 20128071, 20729390, 16199553, 23574728, 22224819, 25116933, 23805288, 24403849, 21092186, 24052609, 17498544, 16213680, 19036616, 18164902, 17509487 ENSG00000091831 10 of 10 rs2228480, CM056948, COSM3761556 A:0.1887 36 FFPE GCCAC G/A GTCTG CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.137G>A p.S46N aGc/aAc chr6 152129184 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129184", "IGV") medium 0.286 1194 no call pass 4226 ESR1_3 ENSG00000091831 3 of 10 tolerated(0.18) benign(0.007) 39 FFPE GGACA G/A CAGCA CMDL150434 FLD0252 FLD0276 nonsynonymous ESR1 c.173C>T p.A58V gCc/gTc chr6 152129220 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129220", "IGV") low 0.130 1194 no call QD 127 ESR1_3 ENSG00000091831 3 of 10 deleterious(0.02) benign(0.278) 42 FFPE GGGCG C/T CGCCT CMDL150434 FLD0252 FLD0276 synonymous ESR1 c.378G>A c.378G>A(p.%3D) caG/caA chr6 152129425 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129425", "IGV") low 0.301 1317 no call FS,QD 2126 ESR1_5 ENSG00000091831 3 of 10 12 FFPE GGCCA G/A CAGGT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.689G>A p.R230Q cGa/cAa chr3 178919204 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919204", "IGV") medium 0.319 2239 pass no call 10991 PIK3CA_11 ENSG00000121879 4 of 21 tolerated(0.08) possibly_damaging(0.797) 38 FFPE AACTC G/A AAGTA CMDL150434 FLD0252 FLD0276 synonymous PIK3CA c.744C>T c.744C>T(p.%3D) ggC/ggT chr3 178919259 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178919259", "IGV") medium 0.253 2291 no call pass 6897 PIK3CA_11 ENSG00000121879 4 of 21 22 FFPE CAGGG C/T AAGTA CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.764G>A p.C255Y tGt/tAt chr3 178919279 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919279", "IGV") medium 0.275 769 no call pass 3004 PIK3CA_12 ENSG00000121879 4 of 21 deleterious(0) probably_damaging(0.995) 17 FFPE AGTGT G/A TGGAT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.775G>A p.E259K Gaa/Aaa chr3 178919290 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919290", "IGV") medium 0.574 1750 pass no call 21033 PIK3CA_12 ENSG00000121879 4 of 21 deleterious(0.03) possibly_damaging(0.883) 28 FFPE GTGAT G/A AATAC CMDL150434 FLD0252 FLD0276 intron PIK3CA c.813+12G>A chr3 178919340 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919340", "IGV") medium 0.270 769 no call pass 2955 PIK3CA_12 ENSG00000121879 4 of 20 34 FFPE AACAA G/A TTTCA CMDL150434 FLD0252 FLD0276 synonymous PIK3CA c.855G>A c.855G>A(p.%3D) ttG/ttA chr3 178921373 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921373", "IGV") medium 0.372 1837 pass no call 25038 PIK3CA_13 ENSG00000121879 5 of 21 53 FFPE AATTT G/A ATGTT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.858G>A p.M286I atG/atA chr3 178921376 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921376", "IGV") medium 0.374 1837 pass no call 25001 PIK3CA_13 ENSG00000121879 5 of 21 tolerated(0.1) probably_damaging(0.948) 50 FFPE TTGAT G/A TTGAT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.864G>A p.M288I atG/atA chr3 178921382 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921382", "IGV") medium 0.370 1837 pass no call 24901 PIK3CA_13 ENSG00000121879 5 of 21 tolerated(0.37) benign(0.005) 44 FFPE TTGAT G/A GCTAA CMDL150434 FLD0252 FLD0276 synonymous PIK3CA c.936C>T c.936C>T(p.%3D) tcC/tcT chr3 178921454 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178921454", "IGV") low 0.160 826 QD no call 737 PIK3CA_14 ENSG00000121879 5 of 21 39 FFPE ATTTC C/T ACAGC CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.971C>T p.T324I aCa/aTa chr3 178921489 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178921489", "IGV") low 0.163 826 QD no call 653 PIK3CA_14 ENSG00000121879 5 of 21 COSM21462 tolerated(0.13) benign(0.003) 44 FFPE ATCTA C/T AAAAT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.1048G>A p.D350N Gac/Aac chr3 178921566 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921566", "IGV") medium 0.305 2684 pass no call 11926 PIK3CA_15 ENSG00000121879 5 of 21 COSM582511, COSM755, COSM582510, COSM1736106 tolerated(0.05) possibly_damaging(0.688) 17 FFPE TTCGA G/A ACATT CMDL150434 FLD0252 FLD0276 splice_region,intron PIK3CA c.1059+6G>A chr3 178921583 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921583", "IGV") medium 0.897 155 no call pass 3021 PIK3CA_16 ENSG00000121879 5 of 20 10 FFPE GTAAA G/A TCAAA CMDL150434 FLD0252 FLD0276 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") high 0.990 1.000 189 155 pass pass 5841 6716 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 FFPE TCTTG C/A ACTAT CMDL150434 FLD0252 FLD0276 intron PIK3CA c.1059+71G>A chr3 178921648 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921648", "IGV") medium 0.899 155 no call pass 3261 PIK3CA_16 ENSG00000121879 5 of 20 41 FFPE ATACA G/A TAATC CMDL150434 FLD0252 FLD0276 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 1.000 0.998 1816 1634 pass pass 52560 53404 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150434 FLD0252 FLD0276 intron PIK3CA c.1251+21C>T chr3 178927509 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178927509", "IGV") low 0.189 2345 QD no call 3682 PIK3CA_20 ENSG00000121879 7 of 20 25 FFPE AGGAA C/T AATTA CMDL150434 FLD0252 FLD0276 intron PIK3CA c.1405-11C>T chr3 178928208 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178928208", "IGV") medium 0.298 1081 no call pass 4538 PIK3CA_23 ENSG00000121879 8 of 20 1 FFPE TTCTT C/T CATCT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.1633G>A p.E545K Gag/Aag chr3 178936091 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178936091", "IGV") high 0.292 0.390 2801 2614 pass pass 11766 17972 PIK3CA_25 21264207 ENSG00000121879 10 of 21 rs104886003, COSM763, COSM27133, COSM125370, COSM295672 deleterious(0.02) probably_damaging(0.959) not_provided,pathogenic 8 FFPE TCACT G/A AGCAG CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.1633G>A p.E545K Gag/Aag chr3 178936091 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178936091", "IGV") medium 0.200 0.292 1547 1779 QD pass 2250 7397 PIK3CA_26 21264207 ENSG00000121879 10 of 21 rs104886003, COSM763, COSM27133, COSM125370, COSM295672 deleterious(0.02) probably_damaging(0.959) not_provided,pathogenic 4 FFPE TCACT G/A AGCAG CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.1531G>A p.A511T Gca/Aca chr3 178928345 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928345", "IGV") low 0.180 2171 no call QD 2714 PIK3CA_28 ENSG00000121879 9 of 21 rs201631515, COSM1220596, COSM1220595 tolerated(0.75) benign(0) 11 FFPE CCCAC G/A CAGGA CMDL150434 FLD0252 FLD0276 nonsynonymous,splice_region PIK3CA c.1666C>T p.H556Y Cac/Tac chr3 178936985 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178936985", "IGV") low 0.135 2546 QD no call 76 PIK3CA_29 ENSG00000121879 11 of 21 tolerated(0.51) benign(0.001) 40 FFPE ACAGA C/T ACTAT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.1735G>A p.E579K Gaa/Aaa chr3 178937054 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178937054", "IGV") low 0.184 2546 QD no call 2983 PIK3CA_29 ENSG00000121879 11 of 21 tolerated(0.2) benign(0.077) 4 FFPE GAGAT G/A AAGTA CMDL150434 FLD0252 FLD0276 intron PIK3CA c.1911+69C>T chr3 178937592 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178937592", "IGV") low 0.149 982 QD no call 625 PIK3CA_34 ENSG00000121879 12 of 20 8 FFPE AACTT C/T CTTTT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.2105T>C p.L702P cTg/cCg chr3 178938863 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178938863", "IGV") low 0.148 52 no call LowQual,QD 14 PIK3CA_38 ENSG00000121879 14 of 21 deleterious(0) probably_damaging(0.997) 17 FFPE GCACC T/C GAATA CMDL150434 FLD0252 FLD0276 intron PIK3CA c.2187+73T>C chr3 178939018 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178939018", "IGV") high 0.994 0.988 1926 1882 pass pass 59394 53923 PIK3CA_40 ENSG00000121879 14 of 20 rs3729689 C:0.0224 27 FFPE GTGTA T/C ATACA CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.2206G>A p.V736I Gtt/Att chr3 178941887 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178941887", "IGV") low 0.153 2039 no call QD 2972 PIK3CA_41 ENSG00000121879 15 of 21 tolerated(0.39) benign(0.003) 30 FFPE TTTTA G/A TTGAG CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.2217G>A p.M739I atG/atA chr3 178941898 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178941898", "IGV") low 0.155 2039 no call QD 2908 PIK3CA_41 ENSG00000121879 15 of 21 tolerated(0.1) benign(0.003) 19 FFPE CAAAT G/A AGGCG CMDL150434 FLD0252 FLD0276 nonsynonymous,splice_region PIK3CA c.2294G>A p.R765K aGg/aAg chr3 178941975 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178941975", "IGV") medium 0.252 1214 no call pass 3766 PIK3CA_42 ENSG00000121879 15 of 21 tolerated(0.98) benign(0.023) 46 FFPE CCTCA G/A GTACT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.2302G>A p.E768K Gag/Aag chr3 178942495 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178942495", "IGV") medium 0.217 210 pass no call 480 PIK3CA_43 ENSG00000121879 16 of 21 tolerated(0.28) benign(0.005) 37 FFPE TTGAA G/A AGTGT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.2324C>T p.A775V gCa/gTa chr3 178942517 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178942517", "IGV") medium 0.575 210 pass no call 2425 PIK3CA_43 ENSG00000121879 16 of 21 deleterious(0.03) possibly_damaging(0.521) 52 FFPE CTCTG C/T AAAAA CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.2438C>T p.T813I aCa/aTa chr3 178943771 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178943771", "IGV") low 0.209 1923 no call QD 3781 PIK3CA_45 ENSG00000121879 17 of 21 deleterious(0.02) possibly_damaging(0.907) 52 FFPE GCTAA C/T ACTTC CMDL150434 FLD0252 FLD0276 synonymous PIK3CA c.2547G>A c.2547G>A(p.%3D) gaG/gaA chr3 178947111 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947111", "IGV") low 0.164 2175 QD no call 1237 PIK3CA_47 ENSG00000121879 18 of 21 24 FFPE ATTGA G/A GTGGT CMDL150434 FLD0252 FLD0276 synonymous PIK3CA c.2608C>T c.2608C>T(p.%3D) Ctg/Ttg chr3 178947172 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947172", "IGV") medium 0.233 2175 pass no call 5551 PIK3CA_47 ENSG00000121879 18 of 21 29 FFPE GTGCA C/T TGCAG CMDL150434 FLD0252 FLD0276 splice_acceptor PIK3CA c.2667-1G>A chr3 178947791 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947791", "IGV") medium 0.223 3023 no call pass 6792 PIK3CA_49 ENSG00000121879 18 of 20 30 FFPE TTGTA G/A ATATG CMDL150434 FLD0252 FLD0276 synonymous PIK3CA c.318C>A c.318C>A(p.%3D) ggC/ggA chr3 178916931 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178916931", "IGV") medium 0.534 498 pass no call 5037 PIK3CA_5 ENSG00000121879 2 of 21 rs201193059, COSM166340 A:0.0002 40 FFPE GTAGG C/A AACCG CMDL150434 FLD0252 FLD0276 intron PIK3CA c.352+37C>T chr3 178917002 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917002", "IGV") medium 0.279 498 pass no call 1679 PIK3CA_5 ENSG00000121879 2 of 20 6 FFPE ATAAC C/T ATAAA CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.2723C>T p.T908I aCc/aTc chr3 178947848 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947848", "IGV") low 0.165 1446 QD no call 683 PIK3CA_50 ENSG00000121879 19 of 21 deleterious(0.01) probably_damaging(0.975) 45 FFPE AGCTA C/T CTTCA CMDL150434 FLD0252 FLD0276 synonymous PIK3CA c.2763C>T c.2763C>T(p.%3D) atC/atT chr3 178947888 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947888", "IGV") low 0.164 1784 no call QD 1450 PIK3CA_50 ENSG00000121879 19 of 21 17 FFPE AACAT C/T ATGGT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.2779G>A p.G927R Gga/Aga chr3 178947904 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947904", "IGV") low 0.162 2124 QD no call 1369 PIK3CA_51 ENSG00000121879 19 of 21 deleterious(0) probably_damaging(0.992) 3 FFPE ACGAT G/A GACAA CMDL150434 FLD0252 FLD0276 intron PIK3CA c.2784+14C>T chr3 178947923 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947923", "IGV") medium 0.514 1599 no call pass 16205 PIK3CA_51 ENSG00000121879 19 of 20 22 FFPE TTTCT C/T TGTTT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.2818C>T p.H940Y Cac/Tac chr3 178948046 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178948046", "IGV") medium 0.221 2015 no call pass 4926 PIK3CA_53 ENSG00000121879 20 of 21 deleterious(0) probably_damaging(0.996) 11 FFPE TGGAT C/T ACAAG CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.2921C>T p.T974I aCa/aTa chr3 178948149 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178948149", "IGV") medium 0.328 1472 pass no call 8448 PIK3CA_54 ENSG00000121879 20 of 21 deleterious(0.01) benign(0.266) 53 FFPE AAAGA C/T AAGAG CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.2968G>A p.A990T Gct/Act chr3 178951913 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178951913", "IGV") low 0.197 2883 no call QD 4865 PIK3CA_55 ENSG00000121879 21 of 21 tolerated(0.28) benign(0.01) 53 FFPE ATCTA G/A CTATT CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.3129G>A p.M1043I atG/atA chr3 178952074 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178952074", "IGV") low 0.186 2692 QD no call 3991 PIK3CA_57 ENSG00000121879 21 of 21 rs121913283, COSM29313, COSM94984, COSM773, COSM419700, COSM446027, COSM94985 tolerated(0.11) benign(0.054) likely_pathogenic 12 FFPE CAAAT G/A AATGA CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.3140A>G p.H1047R cAt/cGt chr3 178952085 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178952085", "IGV") low 0.143 2467 no call QD 682 PIK3CA_57 25710561 ENSG00000121879 21 of 21 rs121913279, COSM776, COSM775, COSM249874, COSM94987, COSM94986 tolerated(0.11) possibly_damaging(0.529) pathogenic 23 FFPE TGCAC A/G TCATG CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.3149G>A p.G1050D gGc/gAc chr3 178952094 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178952094", "IGV") low 0.145 2467 no call QD 1100 PIK3CA_57 ENSG00000121879 21 of 21 COSM17446 deleterious(0.02) benign(0.4) 32 FFPE TGGTG G/A CTGGA CMDL150434 FLD0252 FLD0276 nonsynonymous PIK3CA c.461G>A p.R154K aGg/aAg chr3 178917586 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917586", "IGV") medium 0.236 1236 pass no call 3298 PIK3CA_8 ENSG00000121879 3 of 21 deleterious(0.02) probably_damaging(0.982) 49 FFPE TCTTA G/A GGACC CMDL150434 FLD0252 FLD0276 3_prime_UTR TP53 c.*42C>T chr17 7572885 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572885", "IGV") medium 0.279 1345 no call pass 5909 TP53_1 ENSG00000141510 11 of 11 39 FFPE GAGAT G/A GGGGT CMDL150434 FLD0252 FLD0276 3_prime_UTR TP53 c.*41C>T chr17 7572886 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572886", "IGV") medium 0.475 1766 pass no call 16508 TP53_1 ENSG00000141510 11 of 11 40 FFPE AGATG G/A GGGTG CMDL150434 FLD0252 FLD0276 3_prime_UTR TP53 c.*40C>T chr17 7572887 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572887", "IGV") low 0.147 1766 QD no call 1160 TP53_1 ENSG00000141510 11 of 11 41 FFPE GATGG G/A GGTGG CMDL150434 FLD0252 FLD0276 3_prime_UTR TP53 c.*20C>T chr17 7572907 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572907", "IGV") medium 0.359 1345 no call pass 8159 TP53_1 ENSG00000141510 11 of 11 61 FFPE AGTGG G/A GAACA CMDL150434 FLD0252 FLD0276 intron TP53 c.783-13C>T chr17 7577168 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577168", "IGV") medium 0.321 1525 no call pass 7331 TP53_12 ENSG00000141510 7 of 10 29 FFPE GGATA G/A GAAAA CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.638G>A p.R213Q cGa/cAa chr17 7578211 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578211", "IGV") low 0.190 1969 QD no call 3093 TP53_16 ENSG00000141510 6 of 11 CM022474, rs587778720, CM004906, TP53_g.12707G>C, TP53_g.12707G>T, TP53_g.12707G>A, COSM10735, COSM11860, COSM43650, COSM3717650, COSM131466, COSM241998, COSM131467, COSM241997, COSM3717653, COSM131469, COSM241999, COSM3717655, COSM3378349, COSM3403265, COSM3717652, COSM1741334, COSM1726594, COSM3717651, COSM131468, COSM242000, COSM3717654 deleterious(0) probably_damaging(1) not_provided,pathogenic 31 FFPE TATGT C/T GAAAA CMDL150434 FLD0252 FLD0276 synonymous TP53 c.567C>T c.567C>T(p.%3D) gcC/gcT chr17 7578282 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578282", "IGV") medium 0.224 1352 no call pass 2815 TP53_17 ENSG00000141510 6 of 11 rs55764374, TP53_g.12636C>T, COSM45440, COSM1564179, COSM1564180, COSM1564181, COSM1564183, COSM1564182 28 FFPE GGAGG G/A GCCAG CMDL150434 FLD0252 FLD0276 intron TP53 c.560-38G>A chr17 7578327 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578327", "IGV") low 0.166 1729 QD no call 1458 TP53_18 ENSG00000141510 5 of 10 15 FFPE GGGAC C/T CTGGG CMDL150434 FLD0252 FLD0276 intron TP53 c.559+39C>T chr17 7578332 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578332", "IGV") medium 0.276 1729 pass no call 6294 TP53_18 ENSG00000141510 5 of 10 20 FFPE CCTGG G/A CAACC CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.548C>T p.S183L tCa/tTa chr17 7578382 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578382", "IGV") low 0.180 1710 no call QD 2353 TP53_18 ENSG00000141510 5 of 11 TP53_g.12536C>T, TP53_g.12536C>A, TP53_g.12536C>G, COSM10706, COSM44300, COSM11717, COSM562633, COSM562634, COSM562636, COSM3773308, COSM1649386, COSM562635 deleterious(0.04) possibly_damaging(0.893) 47 FFPE TATCT G/A AGCAG CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.514G>A p.V172I Gtt/Att chr17 7578416 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578416", "IGV") low 0.180 1710 no call QD 1921 TP53_18 ENSG00000141510 5 of 11 CM115637, TP53_g.12502G>A, TP53_g.12502del, TP53_g.12502G>T, COSM44240, COSM43955, COSM45906, COSM354839, COSM354840, COSM354842, COSM3378355, COSM3378354, COSM354841 deleterious(0.02) benign(0.168) 13 FFPE CACAA C/T CTCCG CMDL150434 FLD0252 FLD0276 synonymous TP53 c.525C>T c.525C>T(p.%3D) cgC/cgT chr17 7578405 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578405", "IGV") low 0.154 1574 no call QD 1206 TP53_19 ENSG00000141510 5 of 11 TP53_g.12513C>A, TP53_g.12513C>T, TP53_g.12513C>G, COSM45515, COSM44566 26 FFPE GGGCA G/A CGCCT CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.517G>A p.V173M Gtg/Atg chr17 7578413 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578413", "IGV") low 0.205 1574 no call QD 3062 TP53_19 ENSG00000141510 5 of 11 CM070299, TP53_g.12505G>T, TP53_g.12505G>C, TP53_g.12505del, TP53_g.12505G>A, COSM11084, COSM43559, COSM43732, COSM44057, COSM99641, COSM121042, COSM121041, COSM98964, COSM121043, COSM99638, COSM99639, COSM121045, COSM98965, COSM3723937, COSM3388205, COSM3970358, COSM3723936, COSM2744864, COSM1741210, COSM99640, COSM98966, COSM121044 deleterious(0.02) probably_damaging(1) 34 FFPE CCTCA C/T AACCT CMDL150434 FLD0252 FLD0276 synonymous TP53 c.501G>A c.501G>A(p.%3D) caG/caA chr17 7578429 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578429", "IGV") low 0.158 1794 QD no call 1037 TP53_19 ENSG00000141510 5 of 11 TP53_g.12489G>C, TP53_g.12489G>A, TP53_g.12489G>T, COSM45626, COSM44299, COSM46282, COSM437555, COSM437556, COSM437557, COSM437559, COSM437558 50 FFPE ATGTG C/T TGTGA CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.469G>A p.V157I Gtc/Atc chr17 7578461 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578461", "IGV") medium 0.218 1516 pass no call 3172 TP53_20 ENSG00000141510 5 of 11 rs121912654, TP53_g.12457del, TP53_g.12457G>A, TP53_g.12457G>C, TP53_g.12457G>T, COSM10670, COSM43625, COSM45120, COSM131480, COSM131481, COSM131483, COSM3388217, COSM1679513, COSM131482 tolerated(0.25) benign(0.362) uncertain_significance,pathogenic 27 FFPE GCGGA C/T GCGGG CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.386C>T p.A129V gCc/gTc chr17 7578544 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578544", "IGV") low 0.141 2604 QD no call 1143 TP53_21 ENSG00000141510 5 of 11 rs137852792, TP53_g.12374C>G, TP53_g.12374C>A, TP53_g.12374C>T, COSM44550, COSM45976, COSM45484 tolerated(0.31) benign(0) not_provided 9 FFPE TGAGG G/A CAGGG CMDL150434 FLD0252 FLD0276 splice_region,synonymous TP53 c.375G>A c.375G>A(p.%3D) acG/acA chr17 7579312 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579312", "IGV") medium 0.247 940 pass no call 2921 TP53_22 25730903 ENSG00000141510 4 of 11 CS971913, CS011573, CS004351, rs55863639, TP53_g.11606G>T, TP53_g.11606G>C, TP53_g.11606G>A, COSM45940, COSM46152, COSM43904, COSM292894, COSM381995, COSM437621, COSM292893, COSM437622, COSM381996, COSM3388231, COSM3403299, COSM4070058, COSM1638003, COSM4070057, COSM2744976 pathogenic 28 FFPE CTGAC C/T GTGCA CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.347C>T p.S116F tCt/tTt chr17 7579340 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579340", "IGV") low 0.141 1068 no call QD 445 TP53_22 ENSG00000141510 4 of 11 TP53_g.11578C>G, TP53_g.11578C>T, COSM44044, COSM43715 deleterious(0.02) probably_damaging(1) 56 FFPE TCCCA G/A AATGC CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.334G>A p.G112S Ggc/Agc chr17 7579353 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579353", "IGV") medium 0.243 940 pass no call 2935 TP53_22 ENSG00000141510 4 of 11 TP53_g.11565del, TP53_g.11565G>A, COSM44989 tolerated(0.7) probably_damaging(0.964) 43 FFPE GAAGC C/T CAGAC CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.323G>A p.G108D gGt/gAt chr17 7579364 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579364", "IGV") low 0.191 1068 no call QD 1967 TP53_22 ENSG00000141510 4 of 11 TP53_g.11554G>A, COSM45925, COSM437631, COSM437632, COSM437633 tolerated(0.18) benign(0.37) 32 FFPE GGAAA C/T CGTAG CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.256G>A p.A86T Gca/Aca chr17 7579431 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579431", "IGV") medium 0.214 949 pass no call 2023 TP53_23 ENSG00000141510 4 of 11 rs587782148 tolerated(0.62) benign(0.005) uncertain_significance 42 FFPE TGGTG C/T AGGGG CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 1.000 0.994 949 1055 pass pass 32325 31255 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150434 FLD0252 FLD0276 synonymous TP53 c.129G>A c.129G>A(p.%3D) ttG/ttA chr17 7579558 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579558", "IGV") medium 0.213 1981 pass no call 4871 TP53_24 ENSG00000141510 4 of 11 rs754332870, TP53_g.11360del 49 FFPE AGCAT C/T AAATC CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.101C>T p.P34L cCc/cTc chr17 7579586 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579586", "IGV") medium 0.197 1433 no call pass 2901 TP53_24 ENSG00000141510 4 of 11 TP53_g.11332C>T, COSM43672 tolerated(0.23) benign(0.021) 21 FFPE GCAAG G/A GGGAC CMDL150434 FLD0252 FLD0276 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") medium 0.996 1.000 250 85 pass pass 6913 2368 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150434 FLD0252 FLD0276 intron TP53 c.1101-66G>A chr17 7573074 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7573074", "IGV") medium 0.521 1379 pass no call 13767 TP53_3 ENSG00000141510 10 of 10 9 FFPE CTTTT C/T CCTGA CMDL150434 FLD0252 FLD0276 nonsynonymous TP53 c.1064C>T p.A355V gCt/gTt chr17 7573963 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573963", "IGV") medium 0.178 2125 no call pass 4520 TP53_4 ENSG00000141510 10 of 11 deleterious(0.04) possibly_damaging(0.672) 21 FFPE TCCCA G/A CCTGG CMDL150434 FLD0252 FLD0276 intron TP53 c.993+291G>A chr17 7576562 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576562", "IGV") medium 0.462 763 pass no call 6364 TP53_6 ENSG00000141510 9 of 10 45 FFPE AGTAA C/T ACCAT CMDL150434 FLD0252 FLD0276 intron TP53 c.993+275C>T chr17 7576578 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576578", "IGV") medium 0.391 1237 no call pass 8528 TP53_6 ENSG00000141510 9 of 10 29 FFPE GTCAA G/A TAGCA CMDL150434 FLD0252 FLD0276 intron TP53 c.993+201G>A chr17 7576652 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576652", "IGV") low 0.155 1858 no call QD 1324 TP53_7 ENSG00000141510 9 of 10 51 FFPE CTGGT C/T TGGTC CMDL150434 FLD0252 FLD0276 synonymous TP53 c.967C>T c.967C>T(p.%3D) Ctg/Ttg chr17 7576879 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576879", "IGV") medium 0.269 1643 pass no call 5845 TP53_8 ENSG00000141510 9 of 11 TP53_g.14039C>G, TP53_g.14039del, TP53_g.14039C>A, COSM45095, COSM44473, COSM46469 48 FFPE ATCCA G/A TGGTT CMDL150434 FLD0252 FLD0276 synonymous TP53 c.927C>T c.927C>T(p.%3D) ccC/ccT chr17 7576919 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576919", "IGV") medium 0.273 966 no call pass 3674 TP53_8 ENSG00000141510 9 of 11 TP53_g.13999del, TP53_g.13999C>T, TP53_g.13999C>A, COSM249311, COSM43948, COSM249312 27 FFPE TTGTT G/A GGCAG CMDL150434 FLD0252 FLD0276 synonymous TP53 c.933C>T c.933C>T(p.%3D) aaC/aaT chr17 7576913 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576913", "IGV") medium 0.232 1999 pass no call 7435 TP53_9 ENSG00000141510 9 of 11 rs201601993, TP53_g.14005C>G, TP53_g.14005del, COSM46472, COSM46396 27 FFPE CTGGT G/A TTGTT CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.15C>T c.15C>T(p.%3D) ctC/ctT chr6 152129062 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129062", "IGV") low 0.172 1607 QD no call 623 ESR1_1 ENSG00000091831 3 of 10 37 FFPE ACCCT C/T CACAC CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.996 0.998 1607 475 pass pass 49619 13598 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 1.000 0.992 896 616 pass pass 26108 20334 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150435 FLD0253 FLD0277 intron ESR1 c.761-29C>T chr6 152265279 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265279", "IGV") low 0.139 1299 QD no call 684 ESR1_12 ENSG00000091831 5 of 9 40 FFPE ATAAA C/T TAATT CMDL150435 FLD0253 FLD0277 nonsynonymous ESR1 c.815A>G p.D272G gAt/gGt chr6 152265362 A G =hyperlink("http://localhost:60151/goto?locus=chr6:152265362", "IGV") low 0.166 1398 no call QD 521 ESR1_13 ENSG00000091831 6 of 10 tolerated(0.21) benign(0.001) 22 FFPE GAGAG A/G TGATG CMDL150435 FLD0253 FLD0277 nonsynonymous ESR1 c.886C>T p.L296F Ctc/Ttc chr6 152265433 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265433", "IGV") medium 0.316 1398 no call pass 5907 ESR1_13 ENSG00000091831 6 of 10 rs769618543 tolerated(0.06) benign(0.089) 19 FFPE GCCCG C/T TCATG CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.997 0.996 1487 1042 pass pass 42298 30320 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.1257G>A c.1257G>A(p.%3D) gaG/gaA chr6 152382147 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382147", "IGV") medium 0.252 748 pass no call 2598 ESR1_19 ENSG00000091831 8 of 10 33 FFPE GTAGA G/A GGCAT CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.117G>A c.117G>A(p.%3D) ctG/ctA chr6 152129164 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129164", "IGV") medium 0.382 336 no call pass 2508 ESR1_2 ENSG00000091831 3 of 10 59 FFPE CCCCT G/A GGCGA CMDL150435 FLD0253 FLD0277 nonsynonymous ESR1 c.121G>A p.E41K Gag/Aag chr6 152129168 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129168", "IGV") medium 0.857 961 pass no call 19936 ESR1_2 ENSG00000091831 3 of 10 tolerated(0.08) benign(0.194) 55 FFPE TGGGC G/A AGGTG CMDL150435 FLD0253 FLD0277 intron ESR1 c.1369+18G>A chr6 152382277 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382277", "IGV") low 0.129 1411 LowQual,QD no call 25 ESR1_20 ENSG00000091831 8 of 9 9 FFPE CACAA G/A ATAAC CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.1425C>T c.1425C>T(p.%3D) atC/atT chr6 152415575 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415575", "IGV") low 0.143 1953 no call QD 154 ESR1_21 ENSG00000091831 9 of 10 25 FFPE CATAT C/T CACCG CMDL150435 FLD0253 FLD0277 nonsynonymous,splice_region ESR1 c.1553G>A p.S518N aGt/aAt chr6 152415703 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415703", "IGV") low 0.120 2590 QD no call 2376 ESR1_23 ENSG00000091831 9 of 10 deleterious(0) probably_damaging(0.98) 8 FFPE CATGA G/A GTGAG CMDL150435 FLD0253 FLD0277 splice_region,intron ESR1 c.1554-3C>T chr6 152419864 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152419864", "IGV") low 0.147 1903 QD no call 982 ESR1_24 ENSG00000091831 9 of 9 58 FFPE ACCTA C/T AGTAA CMDL150435 FLD0253 FLD0277 nonsynonymous ESR1 c.1566G>A p.M522I atG/atA chr6 152419879 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152419879", "IGV") low 0.207 1903 QD no call 3209 ESR1_24 ENSG00000091831 10 of 10 rs766415023 tolerated(0.07) benign(0.11) 43 FFPE GGCAT G/A GAGCA CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.1782G>A c.1782G>A(p.%3D) acG/acA chr6 152420095 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420095", "IGV") high 0.495 0.460 2689 2088 pass pass 25326 18186 ESR1_26 20734064, 19693267, 18980759, 21429951, 15113403, 15157284, 19941161, 19094228, 19319135, 20375995, 19654868, 20304699, 24587880, 15268889, 17609999, 19760036, 18627768, 20172949, 24721264, 16504171, 18636479, 19175383, 20046055, 20383761, 24395301, 18385916, 19636371, 18424448, 19519176, 19860576, 19926619, 20128071, 20729390, 16199553, 23574728, 22224819, 25116933, 23805288, 24403849, 21092186, 24052609, 17498544, 16213680, 19036616, 18164902, 17509487 ENSG00000091831 10 of 10 rs2228480, CM056948, COSM3761556 A:0.1887 36 FFPE GCCAC G/A GTCTG CMDL150435 FLD0253 FLD0277 nonsynonymous ESR1 c.109C>T p.R37W Cgg/Tgg chr6 152129156 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129156", "IGV") low 0.177 1265 QD no call 1533 ESR1_3 ENSG00000091831 3 of 10 deleterious(0.01) possibly_damaging(0.893) 11 FFPE TGGAG C/T GGCCC CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.234C>T c.234C>T(p.%3D) ctC/ctT chr6 152129281 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129281", "IGV") medium 0.407 1062 no call pass 7194 ESR1_4 ENSG00000091831 3 of 10 11 FFPE GGCCT C/T CCCTA CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.261G>C c.261G>C(p.%3D) gcG/gcC chr6 152129308 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152129308", "IGV") high 0.831 0.419 1754 1062 pass pass 43718 12185 ESR1_4 18449864, 17268813, 19654868, 20616674, 23805288 ENSG00000091831 3 of 10 rs746432, COSM3761555 C:0.0387 38 FFPE GCTGC G/C GCGTT CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.270C>T c.270C>T(p.%3D) ggC/ggT chr6 152129317 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129317", "IGV") medium 0.326 1754 pass no call 10506 ESR1_4 ENSG00000091831 3 of 10 47 FFPE TTCGG C/T TCCAA CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.276C>T c.276C>T(p.%3D) aaC/aaT chr6 152129323 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129323", "IGV") medium 0.210 1062 no call pass 2454 ESR1_4 ENSG00000091831 3 of 10 COSM3697577 46 FFPE TCCAA C/T GGCCT CMDL150435 FLD0253 FLD0277 synonymous ESR1 c.291C>T c.291C>T(p.%3D) ttC/ttT chr6 152129338 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129338", "IGV") medium 0.324 1754 pass no call 10208 ESR1_4 ENSG00000091831 3 of 10 rs533291788 T:0.0004 31 FFPE GGTTT C/T CCCCC CMDL150435 FLD0253 FLD0277 nonsynonymous ESR1 c.319C>T p.P107S Ccg/Tcg chr6 152129366 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129366", "IGV") medium 0.251 1326 no call pass 4135 ESR1_5 ENSG00000091831 3 of 10 tolerated(0.11) benign(0.103) 8 FFPE CGAGC C/T CGCTG CMDL150435 FLD0253 FLD0277 nonsynonymous ESR1 c.320C>T p.P107L cCg/cTg chr6 152129367 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129367", "IGV") medium 0.326 1326 no call pass 7109 ESR1_5 ENSG00000091831 3 of 10 deleterious(0.02) benign(0.066) 9 FFPE GAGCC C/T GCTGA CMDL150435 FLD0253 FLD0277 splice_region,intron ESR1 c.453-4C>T chr6 152163728 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163728", "IGV") low 0.150 1875 no call QD 768 ESR1_7 ENSG00000091831 3 of 9 59 FFPE TCCCC C/T CAGGC CMDL150435 FLD0253 FLD0277 nonsynonymous ESR1 c.478G>A p.G160S Ggt/Agt chr6 152163757 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152163757", "IGV") low 0.132 2243 QD no call 1223 ESR1_7 ENSG00000091831 4 of 10 rs149308960 tolerated(0.79) benign(0.007) T:0.0006 30 FFPE GCCAG G/A GTGGC CMDL150435 FLD0253 FLD0277 nonsynonymous ESR1 c.482G>A p.G161D gGc/gAc chr6 152163761 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152163761", "IGV") medium 0.133 2243 pass no call 5271 ESR1_7 ENSG00000091831 4 of 10 tolerated(0.23) benign(0.03) 26 FFPE GGGTG G/A CAGAG CMDL150435 FLD0253 FLD0277 nonsynonymous ESR1 c.557C>T p.A186V gCa/gTa chr6 152163836 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163836", "IGV") medium 0.239 2297 pass no call 5239 ESR1_8 ENSG00000091831 4 of 10 deleterious(0.02) possibly_damaging(0.836) 29 FFPE CTGTG C/T AGTGT CMDL150435 FLD0253 FLD0277 intron PIK3CA c.563-15G>A chr3 178919063 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919063", "IGV") low 0.150 2234 QD no call 1468 PIK3CA_10 ENSG00000121879 3 of 20 8 FFPE CTAAT G/A TTTTC CMDL150435 FLD0253 FLD0277 nonsynonymous PIK3CA c.671C>T p.A224V gCa/gTa chr3 178919186 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178919186", "IGV") low 0.155 2046 no call QD 1343 PIK3CA_11 ENSG00000121879 4 of 21 tolerated(0.5) benign(0.022) 20 FFPE TGAAG C/T AATCA CMDL150435 FLD0253 FLD0277 nonsynonymous PIK3CA c.775G>A p.E259K Gaa/Aaa chr3 178919290 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919290", "IGV") medium 0.372 362 pass no call 2554 PIK3CA_12 ENSG00000121879 4 of 21 deleterious(0.03) possibly_damaging(0.883) 28 FFPE GTGAT G/A AATAC CMDL150435 FLD0253 FLD0277 nonsynonymous PIK3CA c.1214C>T p.S405F tCc/tTc chr3 178927451 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178927451", "IGV") medium 0.227 2370 pass no call 5605 PIK3CA_20 ENSG00000121879 7 of 21 COSM6149, COSM1420806, COSM1420805 deleterious(0) probably_damaging(0.995) 19 FFPE CCTTT C/T CATTT CMDL150435 FLD0253 FLD0277 nonsynonymous PIK3CA c.1352G>C p.G451A gGa/gCa chr3 178928074 G C =hyperlink("http://localhost:60151/goto?locus=chr3:178928074", "IGV") medium 0.317 644 pass no call 3044 PIK3CA_22 ENSG00000121879 8 of 21 COSM1308839, COSM1308838 tolerated(0.14) possibly_damaging(0.843) 29 FFPE TCATG G/C ATTAG CMDL150435 FLD0253 FLD0277 intron PIK3CA c.1405-42T>C chr3 178928177 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178928177", "IGV") low 0.141 918 QD no call 306 PIK3CA_23 ENSG00000121879 8 of 20 32 FFPE AACCT T/C CTCTC CMDL150435 FLD0253 FLD0277 nonsynonymous PIK3CA c.1450G>A p.V484I Gta/Ata chr3 178928264 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928264", "IGV") medium 0.218 1278 no call pass 2960 PIK3CA_27 ENSG00000121879 9 of 21 tolerated(0.33) benign(0.124) 18 FFPE GTGTG G/A TAAAG CMDL150435 FLD0253 FLD0277 intron PIK3CA c.1746+44G>A chr3 178937109 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178937109", "IGV") medium 0.291 272 no call pass 1215 PIK3CA_30 ENSG00000121879 11 of 20 rs760703918 26 FFPE AAATT G/A GTATG CMDL150435 FLD0253 FLD0277 nonsynonymous PIK3CA c.2077C>T p.R693C Cgt/Tgt chr3 178938835 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178938835", "IGV") medium 0.337 645 pass no call 3582 PIK3CA_38 ENSG00000121879 14 of 21 deleterious(0) probably_damaging(1) 45 FFPE ATTGT C/T GTGCA CMDL150435 FLD0253 FLD0277 nonsynonymous PIK3CA c.269G>A p.C90Y tGt/tAt chr3 178916882 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916882", "IGV") low 0.134 921 QD no call 102 PIK3CA_4 ENSG00000121879 2 of 21 COSM1753026, COSM3408450, COSM3408449, COSM1753025 deleterious(0) probably_damaging(1) 32 FFPE ACTTT G/A TGACC CMDL150435 FLD0253 FLD0277 intron PIK3CA c.2188-21C>T chr3 178941848 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178941848", "IGV") medium 0.483 2120 no call pass 19286 PIK3CA_41 ENSG00000121879 14 of 20 rs141065099 T:0.0030 39 FFPE TGTGA C/T TATCC CMDL150435 FLD0253 FLD0277 synonymous PIK3CA c.2370A>G c.2370A>G(p.%3D) tcA/tcG chr3 178942563 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178942563", "IGV") low 0.183 108 no call QD 142 PIK3CA_43 ENSG00000121879 16 of 21 6 FFPE ATGTC A/G GAGTT CMDL150435 FLD0253 FLD0277 nonsynonymous PIK3CA c.2626A>G p.T876A Aca/Gca chr3 178947190 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178947190", "IGV") medium 0.225 2226 pass no call 5293 PIK3CA_47 ENSG00000121879 18 of 21 tolerated(0.64) benign(0.006) 11 FFPE GCCAC A/G CACTA CMDL150435 FLD0253 FLD0277 nonsynonymous PIK3CA c.325G>A p.E109K Gaa/Aaa chr3 178916938 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916938", "IGV") medium 0.234 476 no call pass 1484 PIK3CA_5 ENSG00000121879 2 of 21 deleterious(0.05) possibly_damaging(0.614) 47 FFPE ACCGT G/A AAGAA CMDL150435 FLD0253 FLD0277 synonymous PIK3CA c.2733G>A c.2733G>A(p.%3D) ttG/ttA chr3 178947858 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947858", "IGV") low 0.143 1162 no call QD 185 PIK3CA_50 ENSG00000121879 19 of 21 47 FFPE ATTTT G/A GGAAT CMDL150435 FLD0253 FLD0277 synonymous PIK3CA c.2859A>G c.2859A>G(p.%3D) ccA/ccG chr3 178948087 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178948087", "IGV") low 0.154 2180 QD no call 968 PIK3CA_53 ENSG00000121879 20 of 21 52 FFPE GTGCC A/G TTTGT CMDL150435 FLD0253 FLD0277 nonsynonymous PIK3CA c.3140A>G p.H1047R cAt/cGt chr3 178952085 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178952085", "IGV") medium 0.209 0.291 2743 2069 QD pass 5272 8442 PIK3CA_57 25710561 ENSG00000121879 21 of 21 rs121913279, COSM776, COSM775, COSM249874, COSM94987, COSM94986 tolerated(0.11) possibly_damaging(0.529) pathogenic 23 FFPE TGCAC A/G TCATG CMDL150435 FLD0253 FLD0277 intron PIK3CA c.353-48G>A chr3 178917430 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917430", "IGV") medium 0.236 803 no call pass 2402 PIK3CA_6 ENSG00000121879 2 of 20 27 FFPE TTCAT G/A CTGTG CMDL150435 FLD0253 FLD0277 synonymous PIK3CA c.417C>T c.417C>T(p.%3D) ttC/ttT chr3 178917542 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917542", "IGV") medium 0.236 633 no call pass 1809 PIK3CA_7 ENSG00000121879 3 of 21 19 FFPE GACTT C/T CGAAG CMDL150435 FLD0253 FLD0277 nonsynonymous PIK3CA c.511G>A p.V171I Gta/Ata chr3 178917636 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917636", "IGV") low 0.160 1628 QD no call 1178 PIK3CA_8 ENSG00000121879 3 of 21 tolerated(0.8) benign(0.014) 14 FFPE CAAAT G/A TAGAA CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.853G>A p.E285K Gag/Aag chr17 7577085 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577085", "IGV") low 0.189 1443 no call QD 2234 TP53_12 ENSG00000141510 8 of 11 CM995136, rs112431538, TP53_g.13833G>A, TP53_g.13833del, TP53_g.13833G>C, TP53_g.13833G>T, COSM44388, COSM10722, COSM45138, COSM45600, COSM137087, COSM254990, COSM3717625, COSM3932742, COSM1649345, COSM1649344 deleterious(0) probably_damaging(0.985) 8 FFPE TTCCT C/T TGTGC CMDL150435 FLD0253 FLD0277 nonsynonymous,splice_region TP53 c.784G>A p.G262S Ggt/Agt chr17 7577154 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577154", "IGV") medium 0.282 1835 pass no call 7035 TP53_12 ENSG00000141510 8 of 11 rs200579969, TP53_g.13764del, TP53_g.13764G>T, TP53_g.13764G>A, COSM1737946, COSM44548, COSM44697 deleterious(0) probably_damaging(0.986) uncertain_significance 43 FFPE ATTAC C/T ACTAC CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.743G>A p.R248Q cGg/cAg chr17 7577538 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577538", "IGV") low 0.136 1179 no call QD 181 TP53_14 25032700, 20377871, 18798306, 15450681, 25105660, 21264207 ENSG00000141510 7 of 11 rs11540652, CM920675, TP53_g.13380G>A, TP53_g.13380G>C, TP53_g.13380G>T, TP53_g.13380del, COSM10662, COSM11491, COSM6549, COSM46135, COSM340105, COSM99602, COSM241995, COSM99020, COSM241994, COSM340106, COSM3356964, COSM3378346, COSM1640830, COSM1646857, COSM1646858, COSM99021, COSM241996, COSM340107 deleterious(0) probably_damaging(1) pathogenic 30 FFPE GCCTC C/T GGTTC CMDL150435 FLD0253 FLD0277 intron TP53 c.672+16G>A chr17 7578161 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578161", "IGV") medium 0.234 1062 no call pass 2534 TP53_15 ENSG00000141510 6 of 10 21 FFPE GACCC C/T AGTTG CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.656C>T p.P219L cCc/cTc chr17 7578193 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578193", "IGV") low 0.131 1848 no call QD 129 TP53_16 ENSG00000141510 6 of 11 TP53_g.12725C>G, TP53_g.12725C>A, TP53_g.12725C>T, COSM44439, COSM44053, COSM46215 deleterious(0) probably_damaging(1) 13 FFPE CATAG G/A GCACC CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.566C>T p.A189V gCc/gTc chr17 7578283 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578283", "IGV") medium 0.205 1837 no call pass 3732 TP53_16 ENSG00000141510 6 of 11 CM031755, rs121912665, TP53_g.12635C>T, TP53_g.12635del, TP53_g.12635C>A, TP53_g.12635C>G, COSM44349, COSM43698, COSM44454, COSM44203 tolerated(0.06) probably_damaging(1) uncertain_significance,pathogenic 20 FFPE GAGGG G/A CCAGA CMDL150435 FLD0253 FLD0277 intron TP53 c.559+29G>A chr17 7578342 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578342", "IGV") low 0.173 250 QD no call 417 TP53_17 ENSG00000141510 5 of 10 34 FFPE CAGCC C/T TGTCG CMDL150435 FLD0253 FLD0277 intron TP53 c.559+34G>A chr17 7578337 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578337", "IGV") medium 0.600 1778 pass no call 22155 TP53_18 ENSG00000141510 5 of 10 25 FFPE GCAAC C/T AGCCC CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.547T>C p.S183P Tca/Cca chr17 7578383 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7578383", "IGV") low 0.079 1778 LowQual,QD no call 25 TP53_18 ENSG00000141510 5 of 11 TP53_g.12535T>C, COSM44343 tolerated(0.18) benign(0.149) 46 FFPE ATCTG A/G GCAGC CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.527G>A p.C176Y tGc/tAc chr17 7578403 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578403", "IGV") low 0.221 1495 QD no call 2756 TP53_19 ENSG00000141510 5 of 11 TP53_g.12515G>A, TP53_g.12515del, TP53_g.12515G>T, TP53_g.12515G>C, COSM10645, COSM44645, COSM10687, COSM117398, COSM99672, COSM3773309, COSM99669, COSM117395, COSM3773312, COSM117396, COSM99670, COSM3773314, COSM3388204, COSM3378352, COSM3773311, COSM1640850, COSM1649384, COSM3773310, COSM99671, COSM117397, COSM3773313 deleterious(0) probably_damaging(0.995) 24 FFPE GGGGG C/T AGCGC CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.461G>A p.G154D gGc/gAc chr17 7578469 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578469", "IGV") low 0.218 1495 QD no call 2610 TP53_19 ENSG00000141510 5 of 11 rs762846821, CM951223, TP53_g.12449G>C, TP53_g.12449G>T, TP53_g.12449G>A, COSM6815, COSM45622, COSM46378, COSM342243, COSM342244, COSM342246, COSM1649372, COSM342245 deleterious(0.02) benign(0.142) 16 FFPE GGGTG C/T CGGGC CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.469G>A p.V157I Gtc/Atc chr17 7578461 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578461", "IGV") medium 0.754 1070 pass no call 19483 TP53_20 ENSG00000141510 5 of 11 rs121912654, TP53_g.12457del, TP53_g.12457G>A, TP53_g.12457G>C, TP53_g.12457G>T, COSM10670, COSM43625, COSM45120, COSM131480, COSM131481, COSM131483, COSM3388217, COSM1679513, COSM131482 tolerated(0.25) benign(0.362) uncertain_significance,pathogenic 27 FFPE GCGGA C/T GCGGG CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.425C>T p.P142L cCt/cTt chr17 7578505 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578505", "IGV") low 0.199 1125 no call QD 1647 TP53_20 ENSG00000141510 5 of 11 rs779196500, TP53_g.12413C>T, TP53_g.12413C>G, TP53_g.12413C>A, COSM43583, COSM43942 deleterious(0.03) probably_damaging(1) 49 FFPE GCACA G/A GGCAG CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.395A>G p.K132R aAg/aGg chr17 7578535 T C =hyperlink("http://localhost:60151/goto?locus=chr17:7578535", "IGV") high 0.805 0.360 1070 1125 pass pass 21386 6546 TP53_20 ENSG00000141510 5 of 11 TP53_g.12383A>G, TP53_g.12383A>C, TP53_g.12383A>T, COSM11582, COSM43592, COSM43912, COSM179832, COSM308311, COSM308310, COSM179831, COSM3388223, COSM3388224, COSM1646844, COSM2744954, COSM308312, COSM179833 deleterious(0.01) probably_damaging(1) 19 FFPE ACATC T/C TGTTG CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.993 0.992 727 641 pass pass 20195 18934 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.120G>A p.M40I atG/atA chr17 7579567 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579567", "IGV") medium 0.245 927 pass no call 3003 TP53_24 ENSG00000141510 4 of 11 tolerated(0.57) benign(0.001) 40 FFPE TCATC C/T ATTGC CMDL150435 FLD0253 FLD0277 intron TP53 c.75-25C>T chr17 7579746 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579746", "IGV") low 0.273 41 pass no call 177 TP53_27 ENSG00000141510 2 of 10 13 FFPE AGTCA G/A TCCCA CMDL150435 FLD0253 FLD0277 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") low 1.000 1.000 41 54 pass pass 1270 1317 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150435 FLD0253 FLD0277 intron TP53 c.74+32C>T chr17 7579807 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579807", "IGV") low 0.273 41 pass no call 186 TP53_27 ENSG00000141510 2 of 10 42 FFPE GGGGT G/A GTGGG CMDL150435 FLD0253 FLD0277 intron TP53 c.1100+35C>T chr17 7573892 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573892", "IGV") medium 0.251 1777 no call pass 5306 TP53_4 ENSG00000141510 10 of 10 5 FFPE GGCAG G/A GGAGT CMDL150435 FLD0253 FLD0277 intron TP53 c.993+354C>T chr17 7576499 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576499", "IGV") medium 0.226 582 no call pass 1616 TP53_6 ENSG00000141510 9 of 10 3 FFPE ATTAG G/A TGTAT CMDL150435 FLD0253 FLD0277 splice_region,intron TP53 c.993+4C>T chr17 7576849 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576849", "IGV") medium 0.232 1761 pass no call 3782 TP53_8 ENSG00000141510 9 of 10 18 FFPE ACTTA G/A TACCT CMDL150435 FLD0253 FLD0277 nonsynonymous TP53 c.964C>T p.P322S Cca/Tca chr17 7576882 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576882", "IGV") medium 0.231 1761 pass no call 4213 TP53_8 ENSG00000141510 9 of 11 TP53_g.14036del, COSM46003 tolerated(0.38) possibly_damaging(0.672) 51 FFPE CAGTG G/A TTTCT CMDL150435 FLD0253 FLD0277 intron TP53 c.920-9C>T chr17 7576935 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576935", "IGV") low 0.163 1761 QD no call 1068 TP53_8 ENSG00000141510 8 of 10 11 FFPE GGAAA G/A AGGCA CMDL150436 FLD0254 FLD0278 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") low 1.000 2 no call LowQual 22 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150436 FLD0254 FLD0278 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") low 1.000 10 no call pass 219 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150436 FLD0254 FLD0278 intron ESR1 c.761-43G>A chr6 152265265 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265265", "IGV") medium 0.992 986 pass no call 34074 ESR1_12 ENSG00000091831 5 of 9 rs202190274 A:0.0002 26 FFPE TACAC G/A GGAAA CMDL150436 FLD0254 FLD0278 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") medium 0.396 2015 pass no call 13346 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150436 FLD0254 FLD0278 intron ESR1 c.1097-29T>C chr6 152332762 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152332762", "IGV") low 0.179 1280 no call QD 1052 ESR1_16 ENSG00000091831 6 of 9 rs375014758 38 FFPE TTGAG T/C CAGCA CMDL150436 FLD0254 FLD0278 splice_region,synonymous ESR1 c.1098C>G c.1098C>G(p.%3D) ggC/ggG chr6 152332792 C G =hyperlink("http://localhost:60151/goto?locus=chr6:152332792", "IGV") low 0.198 1280 no call QD 1682 ESR1_16 ENSG00000091831 7 of 10 48 FFPE TCAGG C/G TTTGT CMDL150436 FLD0254 FLD0278 intron ESR1 c.1236-57G>A chr6 152382069 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382069", "IGV") medium 0.991 560 pass no call 15276 ESR1_19 ENSG00000091831 7 of 9 9 FFPE TGGAA G/A ATTTT CMDL150436 FLD0254 FLD0278 nonsynonymous ESR1 c.1281G>A p.M427I atG/atA chr6 152382171 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382171", "IGV") medium 0.998 558 pass no call 16097 ESR1_19 ENSG00000091831 8 of 10 deleterious(0) probably_damaging(0.98) 9 FFPE GACAT G/A CTGCT CMDL150436 FLD0254 FLD0278 nonsynonymous ESR1 c.124G>A p.V42M Gtg/Atg chr6 152129171 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129171", "IGV") medium 0.988 328 no call pass 9353 ESR1_2 ENSG00000091831 3 of 10 tolerated(1) benign(0.038) 52 FFPE GCGAG G/A TGTAC CMDL150436 FLD0254 FLD0278 nonsynonymous ESR1 c.1597G>A p.V533M Gtg/Atg chr6 152419910 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152419910", "IGV") medium 0.970 330 no call pass 8383 ESR1_25 ENSG00000091831 10 of 10 rs778116774, COSM239746 tolerated(0.16) benign(0.382) 1 FFPE AGAAC G/A TGGTG CMDL150436 FLD0254 FLD0278 synonymous ESR1 c.1782G>A c.1782G>A(p.%3D) acG/acA chr6 152420095 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420095", "IGV") medium 0.998 1094 pass no call 33186 ESR1_26 20734064, 19693267, 18980759, 21429951, 15113403, 15157284, 19941161, 19094228, 19319135, 20375995, 19654868, 20304699, 24587880, 15268889, 17609999, 19760036, 18627768, 20172949, 24721264, 16504171, 18636479, 19175383, 20046055, 20383761, 24395301, 18385916, 19636371, 18424448, 19519176, 19860576, 19926619, 20128071, 20729390, 16199553, 23574728, 22224819, 25116933, 23805288, 24403849, 21092186, 24052609, 17498544, 16213680, 19036616, 18164902, 17509487 ENSG00000091831 10 of 10 rs2228480, CM056948, COSM3761556 A:0.1887 36 FFPE GCCAC G/A GTCTG CMDL150436 FLD0254 FLD0278 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") low 1.000 2 LowQual no call 22 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150436 FLD0254 FLD0278 synonymous PIK3CA c.1086T>C c.1086T>C(p.%3D) caT/caC chr3 178922317 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178922317", "IGV") medium 0.927 268 no call pass 5868 PIK3CA_17 ENSG00000121879 6 of 21 51 FFPE TACCA T/C GGAGG CMDL150436 FLD0254 FLD0278 nonsynonymous PIK3CA c.1109A>C p.N370T aAt/aCt chr3 178922340 A C =hyperlink("http://localhost:60151/goto?locus=chr3:178922340", "IGV") low 0.125 32 LowQual,QD no call 16 PIK3CA_18 ENSG00000121879 6 of 21 tolerated(0.39) benign(0.002) 19 FFPE TGACA A/C TGTGA CMDL150436 FLD0254 FLD0278 nonsynonymous PIK3CA c.1291G>A p.D431N Gat/Aat chr3 178928013 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928013", "IGV") low 1.000 10 no call pass 219 PIK3CA_22 ENSG00000121879 8 of 21 tolerated(0.1) possibly_damaging(0.858) 24 FFPE TGTTT G/A ATTAC CMDL150436 FLD0254 FLD0278 intron PIK3CA c.1405-20G>A chr3 178928199 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928199", "IGV") medium 0.519 1077 pass no call 11447 PIK3CA_24 ENSG00000121879 8 of 20 19 FFPE TAATA G/A CTTTT CMDL150436 FLD0254 FLD0278 nonsynonymous PIK3CA c.1595A>G p.K532R aAa/aGa chr3 178936053 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178936053", "IGV") medium 0.253 3168 no call pass 9196 PIK3CA_25 ENSG00000121879 10 of 21 tolerated(1) benign(0.001) 34 FFPE GCTCA A/G AGCAA CMDL150436 FLD0254 FLD0278 nonsynonymous PIK3CA c.1467G>A p.M489I atG/atA chr3 178928281 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928281", "IGV") low 0.150 1255 QD no call 641 PIK3CA_27 ENSG00000121879 9 of 21 tolerated(0.4) benign(0) 35 FFPE GATAT G/A TCAGT CMDL150436 FLD0254 FLD0278 intron PIK3CA c.1665-25T>C chr3 178936959 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178936959", "IGV") medium 0.333 2081 pass no call 10323 PIK3CA_29 ENSG00000121879 10 of 20 14 FFPE GTTTA T/C GTTTA CMDL150436 FLD0254 FLD0278 intron PIK3CA c.1746+25G>A chr3 178937090 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178937090", "IGV") low 0.214 28 no call QD 37 PIK3CA_30 ENSG00000121879 11 of 20 rs773356464 45 FFPE TACTA G/A ATAAC CMDL150436 FLD0254 FLD0278 nonsynonymous PIK3CA c.2119G>A p.E707K Gag/Aag chr3 178938877 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178938877", "IGV") medium 0.709 2948 no call pass 45982 PIK3CA_39 ENSG00000121879 14 of 21 rs3729687 deleterious(0.01) probably_damaging(0.951) 38 FFPE AAGTC G/A AGGCA CMDL150436 FLD0254 FLD0278 nonsynonymous PIK3CA c.2138T>A p.I713N aTt/aAt chr3 178938896 T A =hyperlink("http://localhost:60151/goto?locus=chr3:178938896", "IGV") medium 0.331 3263 pass no call 15915 PIK3CA_39 ENSG00000121879 14 of 21 deleterious(0.04) benign(0.065) 50 FFPE GCTCA T/A TAACT CMDL150436 FLD0254 FLD0278 nonsynonymous PIK3CA c.235A>G p.R79G Agg/Ggg chr3 178916848 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178916848", "IGV") medium 0.185 481 pass no call 1064 PIK3CA_4 ENSG00000121879 2 of 21 deleterious(0.03) possibly_damaging(0.456) 45 FFPE CAGAA A/G GGGAA CMDL150436 FLD0254 FLD0278 intron PIK3CA c.2187+30C>T chr3 178938975 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178938975", "IGV") medium 0.249 2086 no call pass 6170 PIK3CA_40 ENSG00000121879 14 of 20 rs202059479 37 FFPE AGACT C/T TTTTC CMDL150436 FLD0254 FLD0278 intron PIK3CA c.2187+40C>T chr3 178938985 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178938985", "IGV") medium 0.448 1758 pass no call 15191 PIK3CA_40 ENSG00000121879 14 of 20 47 FFPE CACTG C/T AGTGG CMDL150436 FLD0254 FLD0278 intron PIK3CA c.2187+85G>A chr3 178939030 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178939030", "IGV") medium 0.391 2086 no call pass 13262 PIK3CA_40 ENSG00000121879 14 of 20 15 FFPE ATCAT G/A GTCCT CMDL150436 FLD0254 FLD0278 nonsynonymous PIK3CA c.2455A>G p.I819V Att/Gtt chr3 178943788 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178943788", "IGV") medium 0.660 764 no call pass 12081 PIK3CA_45 ENSG00000121879 17 of 21 tolerated(0.29) benign(0.024) 61 FFPE TTCGT A/G TTATG CMDL150436 FLD0254 FLD0278 synonymous PIK3CA c.2505T>C c.2505T>C(p.%3D) ccT/ccC chr3 178947069 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178947069", "IGV") medium 0.315 1000 no call pass 4901 PIK3CA_46 ENSG00000121879 18 of 21 43 FFPE TTACC T/C TATGG CMDL150436 FLD0254 FLD0278 splice_region,intron PIK3CA c.2666+8G>A chr3 178947238 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947238", "IGV") medium 0.749 1379 no call pass 25659 PIK3CA_48 ENSG00000121879 18 of 20 43 FFPE GAGTT G/A TATTA CMDL150436 FLD0254 FLD0278 intron PIK3CA c.2785-47T>C chr3 178947966 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178947966", "IGV") medium 0.814 1357 pass no call 30493 PIK3CA_51 ENSG00000121879 19 of 20 48 FFPE CATTT T/C GTATC CMDL150436 FLD0254 FLD0278 nonsynonymous PIK3CA c.2894G>A p.S965N aGt/aAt chr3 178948122 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948122", "IGV") medium 0.326 871 pass no call 4724 PIK3CA_53 ENSG00000121879 20 of 21 deleterious(0.04) benign(0.195) 27 FFPE GATTA G/A TAAAG CMDL150436 FLD0254 FLD0278 nonsynonymous PIK3CA c.2945A>G p.E982G gAg/gGg chr3 178951890 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178951890", "IGV") medium 0.377 3935 no call pass 24104 PIK3CA_55 ENSG00000121879 21 of 21 COSM29114, COSM1420913 deleterious(0.01) probably_damaging(0.968) 30 FFPE TCAGG A/G GATGT CMDL150436 FLD0254 FLD0278 nonsynonymous PIK3CA c.476C>T p.P159L cCt/cTt chr3 178917601 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917601", "IGV") medium 0.234 1337 no call pass 3457 PIK3CA_8 ENSG00000121879 3 of 21 rs200762923 tolerated(0.32) benign(0.001) 49 FFPE TTCAC C/T TCATA CMDL150436 FLD0254 FLD0278 intron PIK3CA c.562+18C>T chr3 178917705 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917705", "IGV") medium 0.990 1970 no call pass 56257 PIK3CA_9 ENSG00000121879 3 of 20 18 FFPE CTAAT C/T TACTC CMDL150436 FLD0254 FLD0278 intron TP53 c.919+14A>G chr17 7577005 T C =hyperlink("http://localhost:60151/goto?locus=chr17:7577005", "IGV") low 1.000 2 LowQual no call 22 TP53_10 ENSG00000141510 8 of 10 53 FFPE TCTTG T/C CCTGC CMDL150436 FLD0254 FLD0278 intron TP53 c.559+12G>A chr17 7578359 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578359", "IGV") low 1.000 2 no call LowQual 22 TP53_18 ENSG00000141510 5 of 10 TP53_g.12559G>A 47 FFPE CAGCC C/T CAGCT CMDL150436 FLD0254 FLD0278 splice_acceptor TP53 c.1101-2A>C chr17 7573010 T G =hyperlink("http://localhost:60151/goto?locus=chr17:7573010", "IGV") low 0.201 2362 QD no call 2984 TP53_2 ENSG00000141510 10 of 10 rs587781664, CS111031, TP53_g.17908A>G, TP53_g.17908A>T, TP53_g.17908A>C, COSM1191161, COSM12663, COSM45409, COSM1386548, COSM1679487 1 FFPE GTGGC T/G GTAGG CMDL150436 FLD0254 FLD0278 nonsynonymous TP53 c.328C>T p.R110C Cgt/Tgt chr17 7579359 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579359", "IGV") low 0.125 16 LowQual,QD no call 14 TP53_22 ENSG00000141510 4 of 11 rs587780066, rs587781371, TP53_g.11559del, TP53_g.11559C>A, TP53_g.11559C>T, TP53_g.11559C>G, COSM44669, COSM43682, COSM45604, COSM166234, COSM247949, COSM247948, COSM166233 tolerated(0.14) probably_damaging(0.985) pathogenic,uncertain_significance 37 FFPE CAGAC G/A GAAAC CMDL150436 FLD0254 FLD0278 nonsynonymous TP53 c.322G>A p.G108S Ggt/Agt chr17 7579365 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579365", "IGV") low 0.125 16 LowQual,QD no call 14 TP53_22 ENSG00000141510 4 of 11 rs587782461, TP53_g.11553G>T, TP53_g.11553G>A, TP53_g.11553del, COSM44037, COSM46051, COSM1386867, COSM1386868, COSM1386869 deleterious(0.05) possibly_damaging(0.521) uncertain_significance 31 FFPE GAAAC C/T GTAGC CMDL150437 FLD0255 FLD0279 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.997 0.992 1688 1546 pass pass 48564 48998 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150437 FLD0255 FLD0279 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.999 0.998 1357 1040 pass pass 39862 31080 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150437 FLD0255 FLD0279 synonymous ESR1 c.810G>A c.810G>A(p.%3D) caG/caA chr6 152265357 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265357", "IGV") medium 0.259 1822 pass no call 5943 ESR1_13 ENSG00000091831 6 of 10 17 FFPE CGCCA G/A AGAGA CMDL150437 FLD0255 FLD0279 nonsynonymous ESR1 c.851G>A p.G284E gGa/gAa chr6 152265398 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265398", "IGV") medium 0.246 1817 no call pass 5188 ESR1_13 ENSG00000091831 6 of 10 tolerated(0.55) benign(0.012) 54 FFPE TGCTG G/A AGACA CMDL150437 FLD0255 FLD0279 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.999 0.993 1186 1160 pass pass 36793 32431 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150437 FLD0255 FLD0279 synonymous ESR1 c.990G>A c.990G>A(p.%3D) gaG/gaA chr6 152265537 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265537", "IGV") low 0.141 1160 no call QD 357 ESR1_14 ENSG00000091831 6 of 10 35 FFPE TCCGA G/A TATGA CMDL150437 FLD0255 FLD0279 synonymous ESR1 c.102C>T c.102C>T(p.%3D) ccC/ccT chr6 152129149 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129149", "IGV") medium 0.224 1444 no call pass 3111 ESR1_2 ENSG00000091831 3 of 10 rs751886427 52 FFPE ATCCC C/T CTGGA CMDL150437 FLD0255 FLD0279 nonsynonymous ESR1 c.1432G>A p.V478I Gtc/Atc chr6 152415582 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415582", "IGV") medium 0.190 1159 no call pass 2850 ESR1_22 ENSG00000091831 9 of 10 tolerated(0.3) benign(0.004) 6 FFPE ACCGA G/A TCCTG CMDL150437 FLD0255 FLD0279 nonsynonymous ESR1 c.1438G>A p.D480N Gac/Aac chr6 152415588 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415588", "IGV") medium 0.195 1159 no call pass 6234 ESR1_22 ENSG00000091831 9 of 10 tolerated(0.32) possibly_damaging(0.813) 12 FFPE TCCTG G/A ACAAG CMDL150437 FLD0255 FLD0279 synonymous ESR1 c.1473C>T c.1473C>T(p.%3D) gcC/gcT chr6 152415623 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415623", "IGV") medium 0.230 1184 pass no call 2459 ESR1_22 ENSG00000091831 9 of 10 47 FFPE ATGGC C/T AAGGC CMDL150437 FLD0255 FLD0279 synonymous ESR1 c.1510C>T c.1510C>T(p.%3D) Ctg/Ttg chr6 152415660 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415660", "IGV") low 0.161 1159 no call QD 527 ESR1_22 ENSG00000091831 9 of 10 36 FFPE AGCGG C/T TGGCC CMDL150437 FLD0255 FLD0279 nonsynonymous ESR1 c.1604C>T p.P535L cCc/cTc chr6 152419917 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152419917", "IGV") low 0.213 1982 no call QD 3525 ESR1_25 ENSG00000091831 10 of 10 tolerated(0.15) probably_damaging(0.999) 8 FFPE GGTGC C/T CCTCT CMDL150437 FLD0255 FLD0279 nonsynonymous ESR1 c.1652C>T p.A551V gCg/gTg chr6 152419965 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152419965", "IGV") low 0.208 1982 no call QD 3326 ESR1_25 ENSG00000091831 10 of 10 rs200128829, COSM594590 tolerated(0.08) benign(0.006) T:0.0002 56 FFPE ACATG C/T GCCCA CMDL150437 FLD0255 FLD0279 stop_gained ESR1 c.1693C>T p.Q565* Caa/Taa chr6 152420006 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152420006", "IGV") medium 0.278 1660 pass no call 5911 ESR1_25 ENSG00000091831 10 of 10 22 FFPE CGGAC C/T AAAGC CMDL150437 FLD0255 FLD0279 synonymous ESR1 c.1782G>A c.1782G>A(p.%3D) acG/acA chr6 152420095 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420095", "IGV") high 0.829 0.837 2320 2172 pass pass 47936 44470 ESR1_26 20734064, 19693267, 18980759, 21429951, 15113403, 15157284, 19941161, 19094228, 19319135, 20375995, 19654868, 20304699, 24587880, 15268889, 17609999, 19760036, 18627768, 20172949, 24721264, 16504171, 18636479, 19175383, 20046055, 20383761, 24395301, 18385916, 19636371, 18424448, 19519176, 19860576, 19926619, 20128071, 20729390, 16199553, 23574728, 22224819, 25116933, 23805288, 24403849, 21092186, 24052609, 17498544, 16213680, 19036616, 18164902, 17509487 ENSG00000091831 10 of 10 rs2228480, CM056948, COSM3761556 A:0.1887 36 FFPE GCCAC G/A GTCTG CMDL150437 FLD0255 FLD0279 synonymous ESR1 c.153G>A c.153G>A(p.%3D) gtG/gtA chr6 152129200 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129200", "IGV") low 0.122 965 no call QD 446 ESR1_3 ENSG00000091831 3 of 10 55 FFPE GCCGT G/A TACAA CMDL150437 FLD0255 FLD0279 nonsynonymous ESR1 c.166G>A p.E56K Gag/Aag chr6 152129213 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129213", "IGV") low 0.120 965 no call QD 336 ESR1_3 ENSG00000091831 3 of 10 deleterious(0.01) probably_damaging(0.95) 49 FFPE ACCCC G/A AGGGC CMDL150437 FLD0255 FLD0279 nonsynonymous ESR1 c.230G>A p.G77D gGc/gAc chr6 152129277 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129277", "IGV") low 0.139 1977 no call LowQual,QD 26 ESR1_4 ENSG00000091831 3 of 10 tolerated(0.32) benign(0.392) 7 FFPE GACCG G/A CCTCC CMDL150437 FLD0255 FLD0279 synonymous ESR1 c.261G>C c.261G>C(p.%3D) gcG/gcC chr6 152129308 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152129308", "IGV") high 0.997 0.998 2477 1977 pass pass 78326 67145 ESR1_4 18449864, 17268813, 19654868, 20616674, 23805288 ENSG00000091831 3 of 10 rs746432, COSM3761555 C:0.0387 38 FFPE GCTGC G/C GCGTT CMDL150437 FLD0255 FLD0279 nonsynonymous ESR1 c.284G>A p.G95E gGg/gAg chr6 152129331 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129331", "IGV") low 0.160 1977 no call QD 1239 ESR1_4 ENSG00000091831 3 of 10 rs769593068 tolerated(0.1) possibly_damaging(0.864) 38 FFPE CCTGG G/A GGGTT CMDL150437 FLD0255 FLD0279 nonsynonymous ESR1 c.305G>A p.S102N aGc/aAc chr6 152129352 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129352", "IGV") low 0.144 1977 no call QD 550 ESR1_4 ENSG00000091831 3 of 10 tolerated(0.27) benign(0.019) 17 FFPE CAACA G/A CGTGT CMDL150437 FLD0255 FLD0279 synonymous ESR1 c.495G>A c.495G>A(p.%3D) ttG/ttA chr6 152163774 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152163774", "IGV") medium 0.220 1607 no call pass 3526 ESR1_7 ENSG00000091831 4 of 10 13 FFPE AGATT G/A GCCAG CMDL150437 FLD0255 FLD0279 nonsynonymous ESR1 c.602C>T p.S201F tCc/tTc chr6 152163881 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163881", "IGV") low 0.143 3245 no call QD 456 ESR1_9 ENSG00000091831 4 of 10 deleterious(0) probably_damaging(0.999) 22 FFPE CTGGT C/T CTGTG CMDL150437 FLD0255 FLD0279 synonymous PIK3CA c.21A>G c.21A>G(p.%3D) tcA/tcG chr3 178916634 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178916634", "IGV") low 0.141 642 QD no call 231 PIK3CA_1 ENSG00000121879 2 of 21 50 FFPE TCATC A/G GGTGA CMDL150437 FLD0255 FLD0279 stop_gained PIK3CA c.688C>T p.R230* Cga/Tga chr3 178919203 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178919203", "IGV") low 0.181 2111 no call QD 2785 PIK3CA_11 ENSG00000121879 4 of 21 37 FFPE AAACT C/T GAAGT CMDL150437 FLD0255 FLD0279 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.631 0.707 1637 1862 pass pass 34474 30132 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150437 FLD0255 FLD0279 splice_region,intron PIK3CA c.1060-8T>C chr3 178922283 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178922283", "IGV") medium 0.423 1637 pass no call 13498 PIK3CA_17 ENSG00000121879 5 of 20 27 FFPE TTTTT T/C CTTTT CMDL150437 FLD0255 FLD0279 stop_gained PIK3CA c.1069C>T p.R357* Cga/Tga chr3 178922300 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178922300", "IGV") medium 0.232 1862 no call pass 5386 PIK3CA_17 ENSG00000121879 6 of 21 COSM1663503, COSM1663502 44 FFPE ATGTT C/T GAACA CMDL150437 FLD0255 FLD0279 splice_region,synonymous PIK3CA c.1146G>A c.1146G>A(p.%3D) agG/agA chr3 178927383 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178927383", "IGV") medium 0.221 1172 no call pass 2607 PIK3CA_19 ENSG00000121879 7 of 21 57 FFPE CATAG G/A TGGAA CMDL150437 FLD0255 FLD0279 stop_gained PIK3CA c.1201C>T p.R401* Cga/Tga chr3 178927438 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178927438", "IGV") low 0.133 2065 QD no call 263 PIK3CA_20 ENSG00000121879 7 of 21 6 FFPE CTGCT C/T GACTT CMDL150437 FLD0255 FLD0279 splice_region,synonymous PIK3CA c.1251G>A c.1251G>A(p.%3D) gaG/gaA chr3 178927488 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178927488", "IGV") low 0.162 1752 no call QD 1519 PIK3CA_20 ENSG00000121879 7 of 21 46 FFPE AAAGA G/A GTAAA CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.1420G>A p.E474K Gag/Aag chr3 178928234 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928234", "IGV") low 0.170 1692 no call QD 2990 PIK3CA_24 ENSG00000121879 9 of 21 deleterious(0.03) probably_damaging(0.936) 40 FFPE GCTTA G/A AGTTG CMDL150437 FLD0255 FLD0279 synonymous PIK3CA c.1428G>A c.1428G>A(p.%3D) gaG/gaA chr3 178928242 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928242", "IGV") medium 0.174 1692 no call pass 7472 PIK3CA_24 ENSG00000121879 9 of 21 COSM1757079, COSM1757078 32 FFPE TTGGA G/A TTTGA CMDL150437 FLD0255 FLD0279 intron PIK3CA c.1665-24G>A chr3 178936960 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178936960", "IGV") low 0.129 2100 no call QD 206 PIK3CA_29 ENSG00000121879 10 of 20 15 FFPE TTTAT G/A TTTAT CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.158C>T p.A53V gCa/gTa chr3 178916771 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916771", "IGV") low 0.180 2147 no call QD 3268 PIK3CA_3 ENSG00000121879 2 of 21 tolerated(0.05) possibly_damaging(0.896) 25 FFPE AGAAG C/T AAGAA CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.181C>T p.L61F Ctt/Ttt chr3 178916794 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916794", "IGV") low 0.179 2147 no call QD 3420 PIK3CA_3 ENSG00000121879 2 of 21 tolerated(0.15) probably_damaging(0.927) 48 FFPE ATCAA C/T TTCTT CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.221C>T p.T74I aCt/aTt chr3 178916834 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916834", "IGV") low 0.160 2147 no call QD 939 PIK3CA_3 ENSG00000121879 2 of 21 deleterious(0) probably_damaging(0.995) 29 FFPE TGTTA C/T TCAAG CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.2111G>A p.R704K aGg/aAg chr3 178938869 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178938869", "IGV") medium 0.396 317 no call pass 2245 PIK3CA_38 ENSG00000121879 14 of 21 tolerated(0.31) benign(0.022) 11 FFPE GAATA G/A GCAAG CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.236G>A p.R79K aGg/aAg chr3 178916849 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916849", "IGV") low 0.158 1151 QD no call 877 PIK3CA_4 ENSG00000121879 2 of 21 tolerated(0.3) benign(0.044) 46 FFPE AGAAA G/A GGAAG CMDL150437 FLD0255 FLD0279 intron PIK3CA c.2188-17C>T chr3 178941852 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178941852", "IGV") low 0.135 1877 no call QD 230 PIK3CA_41 ENSG00000121879 14 of 20 43 FFPE ACTAT C/T CTTTT CMDL150437 FLD0255 FLD0279 synonymous PIK3CA c.2281C>T c.2281C>T(p.%3D) Cta/Tta chr3 178941962 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178941962", "IGV") low 0.150 1507 QD no call 751 PIK3CA_42 ENSG00000121879 15 of 21 51 FFPE ATCAA C/T TAGGA CMDL150437 FLD0255 FLD0279 synonymous PIK3CA c.2352G>A c.2352G>A(p.%3D) gaG/gaA chr3 178942545 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178942545", "IGV") medium 0.237 1374 pass no call 3390 PIK3CA_43 ENSG00000121879 16 of 21 24 FFPE TGGGA G/A AACCC CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.2410G>A p.G804R Ggg/Agg chr3 178942603 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178942603", "IGV") low 0.196 1978 no call QD 3135 PIK3CA_44 ENSG00000121879 16 of 21 deleterious(0) probably_damaging(1) 35 FFPE AAAAT G/A GGGAT CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.2482G>A p.G828S Ggt/Agt chr3 178943815 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178943815", "IGV") low 0.148 1565 QD no call 459 PIK3CA_45 ENSG00000121879 17 of 21 deleterious(0.02) probably_damaging(0.917) 34 FFPE ATCAA G/A GTCTT CMDL150437 FLD0255 FLD0279 intron PIK3CA c.2496-19C>T chr3 178947041 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947041", "IGV") low 0.134 1442 QD no call 182 PIK3CA_46 ENSG00000121879 17 of 20 rs774332931 40 FFPE GTAAA C/T GTGTT CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.2537G>A p.G846E gGa/gAa chr3 178947101 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947101", "IGV") medium 0.273 1769 pass no call 6468 PIK3CA_47 ENSG00000121879 18 of 21 deleterious(0) probably_damaging(1) 14 FFPE TGTGG G/A ACTTA CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.316G>A p.G106S Ggc/Agc chr3 178916929 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916929", "IGV") low 0.124 765 no call QD 57 PIK3CA_5 ENSG00000121879 2 of 21 COSM86046, COSM1645488, COSM271872, COSM1645487 deleterious(0.03) probably_damaging(1) 38 FFPE CAGTA G/A GCAAC CMDL150437 FLD0255 FLD0279 intron PIK3CA c.2784+33G>A chr3 178947942 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947942", "IGV") low 0.166 1892 QD no call 1853 PIK3CA_51 ENSG00000121879 19 of 20 41 FFPE TTGGT G/A TTCTT CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.2836G>A p.G946S Ggt/Agt chr3 178948064 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948064", "IGV") medium 0.378 910 pass no call 5796 PIK3CA_52 ENSG00000121879 20 of 21 deleterious(0) probably_damaging(1) 12 FFPE AATTT G/A GTTAT CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.2926G>A p.E976K Gaa/Aaa chr3 178948154 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948154", "IGV") low 0.142 1554 LowQual,QD no call 25 PIK3CA_54 ENSG00000121879 20 of 21 rs752056112 tolerated(0.11) benign(0.065) 48 FFPE CAAGA G/A AATTT CMDL150437 FLD0255 FLD0279 synonymous PIK3CA c.2985C>T c.2985C>T(p.%3D) gcC/gcT chr3 178951930 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178951930", "IGV") low 0.134 2510 QD no call 149 PIK3CA_55 ENSG00000121879 21 of 21 rs201884756 T:0.0004 46 FFPE CATGC C/T AATCT CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.3038T>C p.L1013P cTa/cCa chr3 178951983 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178951983", "IGV") low 0.169 118 no call QD 113 PIK3CA_56 ENSG00000121879 21 of 21 deleterious(0) probably_damaging(1) 23 FFPE AGAAC T/C ACAAT CMDL150437 FLD0255 FLD0279 synonymous PIK3CA c.3102G>A c.3102G>A(p.%3D) gaG/gaA chr3 178952047 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178952047", "IGV") low 0.356 86 pass no call 506 PIK3CA_56 ENSG00000121879 21 of 21 27 FFPE CAAGA G/A GCTTT CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.406G>A p.V136I Gta/Ata chr3 178917531 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917531", "IGV") low 0.146 908 no call QD 336 PIK3CA_7 ENSG00000121879 3 of 21 tolerated(0.06) benign(0.149) 30 FFPE CAGAA G/A TACAG CMDL150437 FLD0255 FLD0279 stop_gained PIK3CA c.409C>T p.Q137* Cag/Tag chr3 178917534 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917534", "IGV") low 0.169 1448 QD no call 1355 PIK3CA_7 ENSG00000121879 3 of 21 27 FFPE AAGTA C/T AGGAC CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.419G>A p.R140Q cGa/cAa chr3 178917544 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917544", "IGV") low 0.167 1068 no call QD 1033 PIK3CA_8 ENSG00000121879 3 of 21 deleterious(0) probably_damaging(0.999) 7 FFPE CTTCC G/A AAGAA CMDL150437 FLD0255 FLD0279 nonsynonymous PIK3CA c.437T>C p.V146A gTt/gCt chr3 178917562 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178917562", "IGV") medium 0.261 1924 pass no call 6646 PIK3CA_8 ENSG00000121879 3 of 21 tolerated(0.09) benign(0.156) 25 FFPE GAACG T/C TTGTA CMDL150437 FLD0255 FLD0279 intron PIK3CA c.562+11G>A chr3 178917698 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917698", "IGV") low 0.193 2068 QD no call 3318 PIK3CA_9 ENSG00000121879 3 of 20 25 FFPE AAAAT G/A ACTAA CMDL150437 FLD0255 FLD0279 3_prime_UTR TP53 c.*32C>T chr17 7572895 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572895", "IGV") medium 0.264 1185 pass no call 3588 TP53_1 ENSG00000141510 11 of 11 49 FFPE TGGGA G/A GCTGT CMDL150437 FLD0255 FLD0279 3_prime_UTR TP53 c.*31C>T chr17 7572896 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572896", "IGV") low 0.175 1029 no call QD 1561 TP53_1 ENSG00000141510 11 of 11 50 FFPE GGGAG G/A CTGTC CMDL150437 FLD0255 FLD0279 intron TP53 c.920-33C>T chr17 7576959 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576959", "IGV") low 0.211 1452 no call QD 2890 TP53_10 ENSG00000141510 8 of 10 7 FFPE AAAGT G/A AATCT CMDL150437 FLD0255 FLD0279 nonsynonymous TP53 c.818G>A p.R273H cGt/cAt chr17 7577120 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577120", "IGV") medium 0.455 695 pass no call 5989 TP53_12 25105660 ENSG00000141510 8 of 11 CM920677, CM010472, rs28934576, CM004342, TP53_g.13798G>C, TP53_g.13798del, TP53_g.13798G>A, TP53_g.13798G>T, COSM10660, COSM43896, COSM44440, COSM10779, COSM318169, COSM99729, COSM165077, COSM3356963, COSM3675521, COSM1640828, COSM1645335, COSM1646808 tolerated(0.13) possibly_damaging(0.631) pathogenic T:0.0002 43 FFPE AAACA C/T GCACC CMDL150437 FLD0255 FLD0279 nonsynonymous TP53 c.767C>T p.T256I aCa/aTa chr17 7577514 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577514", "IGV") low 0.134 1474 QD no call 308 TP53_14 ENSG00000141510 7 of 11 CM951232, TP53_g.13404C>A, TP53_g.13404C>T, COSM44429, COSM508592, COSM45973, COSM1610830, COSM1610831, COSM3717633, COSM3717632 deleterious(0) probably_damaging(1) 6 FFPE CCAGT G/A TGATG CMDL150437 FLD0255 FLD0279 intron TP53 c.672+27G>A chr17 7578150 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578150", "IGV") low 0.208 1567 QD no call 2726 TP53_15 ENSG00000141510 6 of 10 10 FFPE CTCCT C/T CCAGA CMDL150437 FLD0255 FLD0279 nonsynonymous,splice_region TP53 c.671A>G p.E224G gAg/gGg chr17 7578178 T C =hyperlink("http://localhost:60151/goto?locus=chr17:7578178", "IGV") medium 0.336 826 no call pass 4323 TP53_15 ENSG00000141510 6 of 11 TP53_g.12740A>G, TP53_g.12740A>T, COSM44014, COSM46308 deleterious(0) probably_damaging(0.962) 38 FFPE AGACC T/C CAGGC CMDL150437 FLD0255 FLD0279 synonymous TP53 c.666G>A c.666G>A(p.%3D) ccG/ccA chr17 7578183 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578183", "IGV") low 0.205 0.197 1567 826 QD QD 2779 1443 TP53_15 ENSG00000141510 6 of 11 rs72661118, TP53_g.12735G>C, TP53_g.12735G>T, TP53_g.12735G>A, COSM44668, COSM43924, COSM46134 not_provided,benign,likely_benign 43 FFPE TCAGG C/T GGCTC CMDL150437 FLD0255 FLD0279 intron TP53 c.560-32C>T chr17 7578321 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578321", "IGV") medium 0.285 833 pass no call 3209 TP53_17 ENSG00000141510 5 of 10 55 FFPE GGCCT G/A GGGAC CMDL150437 FLD0255 FLD0279 intron TP53 c.559+25G>A chr17 7578346 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578346", "IGV") medium 0.335 1206 no call pass 5918 TP53_17 ENSG00000141510 5 of 10 TP53_g.12572G>A, COSM45841 30 FFPE CCTGT C/T GTCTC CMDL150437 FLD0255 FLD0279 nonsynonymous TP53 c.517G>A p.V173M Gtg/Atg chr17 7578413 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578413", "IGV") medium 0.322 1686 no call pass 8058 TP53_18 ENSG00000141510 5 of 11 CM070299, TP53_g.12505G>T, TP53_g.12505G>C, TP53_g.12505del, TP53_g.12505G>A, COSM11084, COSM43559, COSM43732, COSM44057, COSM99641, COSM121042, COSM121041, COSM98964, COSM121043, COSM99638, COSM99639, COSM121045, COSM98965, COSM3723937, COSM3388205, COSM3970358, COSM3723936, COSM2744864, COSM1741210, COSM99640, COSM98966, COSM121044 deleterious(0.02) probably_damaging(1) 16 FFPE CCTCA C/T AACCT CMDL150437 FLD0255 FLD0279 synonymous TP53 c.513G>A c.513G>A(p.%3D) gaG/gaA chr17 7578417 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578417", "IGV") medium 0.415 1614 pass no call 12696 TP53_18 ENSG00000141510 5 of 11 TP53_g.12501G>A, TP53_g.12501G>C, TP53_g.12501G>T, COSM255158, COSM45683, COSM44646, COSM437551, COSM437552, COSM437554, COSM437553 12 FFPE ACAAC C/T TCCGT CMDL150437 FLD0255 FLD0279 nonsynonymous TP53 c.480G>A p.M160I atG/atA chr17 7578450 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578450", "IGV") medium 0.294 1506 no call pass 6505 TP53_20 ENSG00000141510 5 of 11 rs772354334, TP53_g.12468G>C, TP53_g.12468G>T, TP53_g.12468G>A, COSM43891, COSM45674, COSM45732, COSM1610860, COSM1610861, COSM1610863, COSM3717666, COSM3717665, COSM1610862 tolerated(0.2) possibly_damaging(0.653) 16 FFPE ATGGC C/T ATGGC CMDL150437 FLD0255 FLD0279 stop_gained TP53 c.437G>A p.W146* tGg/tAg chr17 7578493 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578493", "IGV") medium 0.290 1506 no call pass 5966 TP53_20 ENSG00000141510 5 of 11 CM107391, TP53_g.12425G>C, TP53_g.12425G>T, TP53_g.12425G>A, COSM43609, COSM46220, COSM1158445, COSM417960, COSM1158446, COSM417961, COSM417963, COSM1158448, COSM3378359, COSM1640860, COSM1158447, COSM417962 59 FFPE CAACC C/T ACAGC CMDL150437 FLD0255 FLD0279 synonymous TP53 c.393C>T c.393C>T(p.%3D) aaC/aaT chr17 7578537 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578537", "IGV") medium 0.259 1506 no call pass 4440 TP53_20 ENSG00000141510 5 of 11 rs769270327, TP53_g.12381C>T, TP53_g.12381C>G, TP53_g.12381C>A, COSM45978, COSM44291, COSM44138, COSM100015, COSM100018, COSM100016, COSM100017 17 FFPE ATCTT G/A TTGAG CMDL150437 FLD0255 FLD0279 splice_region,intron TP53 c.376-7C>T chr17 7578561 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578561", "IGV") low 0.161 1935 QD no call 1676 TP53_21 ENSG00000141510 4 of 10 26 FFPE TGTAG G/A AAGAG CMDL150437 FLD0255 FLD0279 synonymous TP53 c.277C>T c.277C>T(p.%3D) Ctg/Ttg chr17 7579410 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579410", "IGV") low 0.088 683 no call QD 589 TP53_23 ENSG00000141510 4 of 11 TP53_g.11508C>A, TP53_g.11508C>T, COSM166218, COSM1564163, COSM96581, COSM43812, COSM1564164, COSM166220, COSM166219, COSM1564165 21 FFPE TGACA G/A GGGCC CMDL150437 FLD0255 FLD0279 nonsynonymous TP53 c.269C>T p.S90F tCc/tTc chr17 7579418 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579418", "IGV") low 0.088 683 no call QD 589 TP53_23 ENSG00000141510 4 of 11 TP53_g.11500C>T, TP53_g.11500C>A, COSM46099 tolerated(0.18) possibly_damaging(0.707) 29 FFPE GCCAG G/A AGGGG CMDL150437 FLD0255 FLD0279 synonymous TP53 c.258A>G c.258A>G(p.%3D) gcA/gcG chr17 7579429 T C =hyperlink("http://localhost:60151/goto?locus=chr17:7579429", "IGV") low 0.170 952 QD no call 898 TP53_23 ENSG00000141510 4 of 11 COSM3820728, COSM3820729, COSM3820732, COSM3820731, COSM3820730 40 FFPE GCTGG T/C GCAGG CMDL150437 FLD0255 FLD0279 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.994 0.997 953 683 pass pass 31810 19586 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150437 FLD0255 FLD0279 nonsynonymous TP53 c.164C>T p.T55I aCt/aTt chr17 7579523 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579523", "IGV") medium 0.276 1030 no call pass 3839 TP53_24 ENSG00000141510 4 of 11 TP53_g.11395C>T tolerated(0.12) benign(0.013) 30 FFPE CTTCA G/A TGAAC CMDL150437 FLD0255 FLD0279 intron TP53 c.97-47G>A chr17 7579637 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579637", "IGV") medium 0.288 249 no call pass 1342 TP53_26 ENSG00000141510 3 of 10 21 FFPE AGCCC C/T CCAGC CMDL150437 FLD0255 FLD0279 intron TP53 c.74+47C>T chr17 7579792 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579792", "IGV") medium 0.606 494 pass no call 6010 TP53_27 ENSG00000141510 2 of 10 57 FFPE GCTGG G/A GTTGG CMDL150437 FLD0255 FLD0279 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 0.998 0.991 494 105 pass pass 19010 2646 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150437 FLD0255 FLD0279 5_prime_UTR TP53 c.-3G>A chr17 7579915 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579915", "IGV") low 0.173 1947 QD no call 2226 TP53_28 ENSG00000141510 2 of 11 50 FFPE CATGG C/T AGTGA CMDL150437 FLD0255 FLD0279 intron TP53 c.1101-13C>T chr17 7573021 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573021", "IGV") medium 0.266 1374 pass no call 4485 TP53_3 ENSG00000141510 10 of 10 59 FFPE AGACA G/A AAGCA CMDL150437 FLD0255 FLD0279 splice_region,intron TP53 c.994-3C>T chr17 7574036 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7574036", "IGV") low 0.172 2759 no call QD 3003 TP53_5 ENSG00000141510 9 of 10 31 FFPE GATCT G/A CAGCA CMDL150437 FLD0255 FLD0279 intron TP53 c.993+320G>A chr17 7576533 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576533", "IGV") medium 0.202 673 pass no call 1399 TP53_6 ENSG00000141510 9 of 10 37 FFPE ATTTT C/T AACTT CMDL150437 FLD0255 FLD0279 intron TP53 c.993+176C>T chr17 7576677 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576677", "IGV") medium 0.249 1610 no call pass 4712 TP53_7 ENSG00000141510 9 of 10 43 FFPE TTATG G/A TATAA CMDL150437 FLD0255 FLD0279 intron TP53 c.993+170C>T chr17 7576683 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576683", "IGV") low 0.142 1610 no call QD 553 TP53_7 ENSG00000141510 9 of 10 37 FFPE TATAA G/A TTGGT CMDL150438 FLD0256 FLD0280 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") medium 0.993 1.000 1260 12 pass pass 40784 309 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150438 FLD0256 FLD0280 intron ESR1 c.644-78T>C chr6 152201712 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201712", "IGV") medium 0.274 2377 no call pass 7925 ESR1_10 ENSG00000091831 4 of 9 10 FFPE CAGCC T/C CCAAA CMDL150438 FLD0256 FLD0280 intron ESR1 c.644-38C>T chr6 152201752 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152201752", "IGV") medium 0.759 2377 no call pass 41206 ESR1_10 ENSG00000091831 4 of 9 50 FFPE GTTTC C/T TGAAA CMDL150438 FLD0256 FLD0280 synonymous ESR1 c.915C>T c.915C>T(p.%3D) agC/agT chr6 152265462 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265462", "IGV") low 0.128 313 no call LowQual,QD 25 ESR1_14 ENSG00000091831 6 of 10 12 FFPE AACAG C/T CTGGC CMDL150438 FLD0256 FLD0280 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") medium 0.714 1.000 12 313 pass pass 159 8701 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150438 FLD0256 FLD0280 nonsynonymous ESR1 c.64G>A p.E22K Gag/Aag chr6 152129111 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129111", "IGV") low 1.000 6 pass no call 120 ESR1_2 ENSG00000091831 3 of 10 deleterious(0) probably_damaging(0.998) 14 FFPE GGAAC G/A AGCTG CMDL150438 FLD0256 FLD0280 intron ESR1 c.1370-26C>T chr6 152415494 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415494", "IGV") low 0.150 2452 no call QD 737 ESR1_21 ENSG00000091831 8 of 9 10 FFPE TCTCT C/T TCTCA CMDL150438 FLD0256 FLD0280 synonymous ESR1 c.1377C>T c.1377C>T(p.%3D) taC/taT chr6 152415527 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415527", "IGV") medium 0.274 683 pass no call 2644 ESR1_21 ENSG00000091831 9 of 10 43 FFPE GTGTA C/T ACATT CMDL150438 FLD0256 FLD0280 nonsynonymous ESR1 c.1426C>T p.H476Y Cac/Tac chr6 152415576 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415576", "IGV") low 0.153 2452 no call QD 947 ESR1_21 ENSG00000091831 9 of 10 tolerated(1) possibly_damaging(0.598) 24 FFPE ATATC C/T ACCGA CMDL150438 FLD0256 FLD0280 synonymous ESR1 c.1617G>A c.1617G>A(p.%3D) ctG/ctA chr6 152419930 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152419930", "IGV") medium 0.946 219 pass no call 5022 ESR1_25 ENSG00000091831 10 of 10 21 FFPE GACCT G/A CTGCT CMDL150438 FLD0256 FLD0280 nonsynonymous ESR1 c.1733C>T p.S578F tCc/tTc chr6 152420046 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152420046", "IGV") medium 0.484 1529 no call pass 14155 ESR1_26 ENSG00000091831 10 of 10 rs781018265, COSM224935 deleterious_low_confidence(0) possibly_damaging(0.905) 30 FFPE GCATT C/T CTTGC CMDL150438 FLD0256 FLD0280 nonsynonymous ESR1 c.317G>A p.S106N aGc/aAc chr6 152129364 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129364", "IGV") low 1.000 46 no call pass 2042 ESR1_4 ENSG00000091831 3 of 10 tolerated(0.12) benign(0.026) 5 FFPE TCCGA G/A CCCGC CMDL150438 FLD0256 FLD0280 synonymous ESR1 c.321G>A c.321G>A(p.%3D) ccG/ccA chr6 152129368 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129368", "IGV") low 1.000 46 no call pass 2042 ESR1_4 ENSG00000091831 3 of 10 1 FFPE AGCCC G/A CTGAT CMDL150438 FLD0256 FLD0280 nonsynonymous ESR1 c.478G>T p.G160C Ggt/Tgt chr6 152163757 G T =hyperlink("http://localhost:60151/goto?locus=chr6:152163757", "IGV") medium 0.979 1666 pass no call 55937 ESR1_7 ENSG00000091831 4 of 10 rs149308960 deleterious(0.04) possibly_damaging(0.759) T:0.0006 30 FFPE GCCAG G/T GTGGC CMDL150438 FLD0256 FLD0280 nonsynonymous ESR1 c.478G>T p.G160C Ggt/Tgt chr6 152163757 G T =hyperlink("http://localhost:60151/goto?locus=chr6:152163757", "IGV") medium 0.824 0.837 1661 98 pass pass 32303 1732 ESR1_8 ENSG00000091831 4 of 10 rs149308960 deleterious(0.04) possibly_damaging(0.759) T:0.0006 9 FFPE GCCAG G/T GTGGC CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.52C>T p.P18S Cca/Tca chr3 178916665 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916665", "IGV") low 0.800 10 pass no call 140 PIK3CA_1 ENSG00000121879 2 of 21 tolerated(0.5) benign(0.01) 19 FFPE TGCCC C/T CAAGA CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.573A>G p.I191M atA/atG chr3 178919088 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178919088", "IGV") medium 0.969 729 pass no call 19800 PIK3CA_10 ENSG00000121879 4 of 21 tolerated(0.23) benign(0.078) 33 FFPE ATAAT A/G GTGGT CMDL150438 FLD0256 FLD0280 synonymous PIK3CA c.849C>T c.849C>T(p.%3D) ccC/ccT chr3 178921367 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178921367", "IGV") medium 0.979 281 no call pass 7239 PIK3CA_13 ENSG00000121879 5 of 21 56 FFPE ATGCC C/T AATTT CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.926G>A p.R309K aGa/aAa chr3 178921444 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178921444", "IGV") medium 0.989 745 pass no call 23104 PIK3CA_14 ENSG00000121879 5 of 21 COSM166341 tolerated(0.4) benign(0.032) 29 FFPE TTCCA G/A ACGCA CMDL150438 FLD0256 FLD0280 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") low 1.000 1.000 51 10 pass pass 1380 300 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 FFPE TCTTG C/A ACTAT CMDL150438 FLD0256 FLD0280 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.992 0.997 116 1366 pass pass 3431 57943 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150438 FLD0256 FLD0280 splice_region,intron PIK3CA c.1060-6T>C chr3 178922285 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178922285", "IGV") medium 0.346 1366 no call pass 7678 PIK3CA_17 ENSG00000121879 5 of 20 29 FFPE TTTTC T/C TTTAG CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.1088G>A p.G363E gGa/gAa chr3 178922319 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178922319", "IGV") medium 0.508 1366 no call pass 14152 PIK3CA_17 ENSG00000121879 6 of 21 rs759188876, COSM1579089, COSM1579088 deleterious(0) probably_damaging(1) 49 FFPE CCATG G/A AGGAG CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.1096C>T p.P366S Ccc/Tcc chr3 178922327 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178922327", "IGV") medium 0.450 116 pass no call 1033 PIK3CA_17 ENSG00000121879 6 of 21 tolerated(0.81) benign(0.029) 41 FFPE GAGAA C/T CCTTA CMDL150438 FLD0256 FLD0280 stop_gained PIK3CA c.1201C>T p.R401* Cga/Tga chr3 178927438 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178927438", "IGV") medium 0.384 1291 no call pass 8344 PIK3CA_19 ENSG00000121879 7 of 21 2 FFPE CTGCT C/T GACTT CMDL150438 FLD0256 FLD0280 synonymous PIK3CA c.96G>A c.96G>A(p.%3D) gtG/gtA chr3 178916709 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916709", "IGV") medium 0.967 1528 pass no call 43328 PIK3CA_2 ENSG00000121879 2 of 21 41 FFPE ATAGT G/A ACTTT CMDL150438 FLD0256 FLD0280 synonymous PIK3CA c.1443C>T c.1443C>T(p.%3D) agC/agT chr3 178928257 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178928257", "IGV") medium 0.559 1311 pass no call 15153 PIK3CA_24 ENSG00000121879 9 of 21 17 FFPE TTCAG C/T AGTGT CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.1573G>A p.E525K Gaa/Aaa chr3 178936031 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178936031", "IGV") low 0.153 2796 no call QD 1351 PIK3CA_25 ENSG00000121879 10 of 21 COSM41783 tolerated(0.34) benign(0.007) 12 FFPE TAAGG G/A AAAAT CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.1531G>A p.A511T Gca/Aca chr3 178928345 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928345", "IGV") medium 0.257 737 pass no call 2497 PIK3CA_27 ENSG00000121879 9 of 21 rs201631515, COSM1220596, COSM1220595 tolerated(0.75) benign(0) 6 FFPE CCCAC G/A CAGGA CMDL150438 FLD0256 FLD0280 intron PIK3CA c.1747-13T>C chr3 178937346 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178937346", "IGV") medium 0.239 3017 no call pass 8234 PIK3CA_31 ENSG00000121879 11 of 20 rs41273619 C:0.0313 43 FFPE TGTCT T/C TCTCA CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.1844C>T p.A615V gCt/gTt chr3 178937456 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178937456", "IGV") medium 0.863 156 pass no call 3077 PIK3CA_33 ENSG00000121879 12 of 21 deleterious(0) probably_damaging(1) 23 FFPE TTTTG C/T TGTTC CMDL150438 FLD0256 FLD0280 synonymous PIK3CA c.2001C>T c.2001C>T(p.%3D) ttC/ttT chr3 178937826 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178937826", "IGV") low 0.164 1881 QD no call 858 PIK3CA_36 ENSG00000121879 13 of 21 COSM86947 3 FFPE TTTTT C/T TTTTG CMDL150438 FLD0256 FLD0280 synonymous PIK3CA c.228A>G c.228A>G(p.%3D) gaA/gaG chr3 178916841 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178916841", "IGV") medium 0.320 641 no call pass 3304 PIK3CA_4 ENSG00000121879 2 of 21 38 FFPE CAAGA A/G GCAGA CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.277C>T p.R93W Cgg/Tgg chr3 178916890 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916890", "IGV") medium 0.520 641 no call pass 11932 PIK3CA_4 ENSG00000121879 2 of 21 COSM27493, COSM1041455 deleterious(0) probably_damaging(0.997) 24 FFPE ACCTT C/T GGCTT CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.289C>T p.P97S Ccc/Tcc chr3 178916902 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916902", "IGV") medium 0.515 641 no call pass 7819 PIK3CA_4 ENSG00000121879 2 of 21 deleterious(0.01) possibly_damaging(0.866) 12 FFPE TTCAA C/T CCTTT CMDL150438 FLD0256 FLD0280 intron PIK3CA c.2187+26G>A chr3 178938971 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178938971", "IGV") low 0.212 1188 no call QD 2286 PIK3CA_40 ENSG00000121879 14 of 20 33 FFPE TTTGA G/A ACTCT CMDL150438 FLD0256 FLD0280 intron PIK3CA c.2187+44G>A chr3 178938989 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178938989", "IGV") low 0.155 761 QD no call 1273 PIK3CA_40 ENSG00000121879 14 of 20 rs775054131 51 FFPE GCAGT G/A GGGCA CMDL150438 FLD0256 FLD0280 intron PIK3CA c.2187+47G>A chr3 178938992 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178938992", "IGV") medium 0.155 761 pass no call 2574 PIK3CA_40 ENSG00000121879 14 of 20 53 FFPE GTGGG G/A CAGAG CMDL150438 FLD0256 FLD0280 stop_gained,splice_region PIK3CA c.2494C>T p.R832* Cga/Tga chr3 178943827 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178943827", "IGV") low 0.204 862 QD no call 1581 PIK3CA_45 ENSG00000121879 17 of 21 22 FFPE ATCTT C/T GGTAG CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.2539C>T p.L847F Ctt/Ttt chr3 178947103 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947103", "IGV") low 0.178 1748 QD no call 1965 PIK3CA_47 ENSG00000121879 18 of 21 deleterious(0.01) probably_damaging(0.928) 16 FFPE TGGGA C/T TTATT CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.325G>A p.E109K Gaa/Aaa chr3 178916938 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916938", "IGV") medium 0.217 231 no call pass 647 PIK3CA_5 ENSG00000121879 2 of 21 deleterious(0.05) possibly_damaging(0.614) 47 FFPE ACCGT G/A AAGAA CMDL150438 FLD0256 FLD0280 intron PIK3CA c.352+40A>G chr3 178917005 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178917005", "IGV") medium 0.676 284 pass no call 3937 PIK3CA_5 ENSG00000121879 2 of 20 rs3729674 G:0.2734 3 FFPE ACCAT A/G AAGCT CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.2702G>A p.C901Y tGt/tAt chr3 178947827 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947827", "IGV") medium 0.427 638 no call pass 4928 PIK3CA_50 ENSG00000121879 19 of 21 COSM769, COSM1420902, COSM1041510, COSM1420901 deleterious(0) probably_damaging(1) 24 FFPE TTCAT G/A TGCTG CMDL150438 FLD0256 FLD0280 splice_region,intron PIK3CA c.2784+6G>A chr3 178947915 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947915", "IGV") medium 0.995 214 no call pass 6387 PIK3CA_51 ENSG00000121879 19 of 20 14 FFPE GTAAT G/A GTTTT CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.2791C>T p.H931Y Cat/Tat chr3 178948019 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178948019", "IGV") low 0.750 40 no call pass 675 PIK3CA_52 ENSG00000121879 20 of 21 deleterious(0) probably_damaging(0.998) 56 FFPE TGTTT C/T ATATA CMDL150438 FLD0256 FLD0280 synonymous PIK3CA c.2853T>C c.2853T>C(p.%3D) cgT/cgC chr3 178948081 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178948081", "IGV") medium 0.341 261 pass no call 1488 PIK3CA_53 ENSG00000121879 20 of 21 46 FFPE GAACG T/C GTGCC CMDL150438 FLD0256 FLD0280 synonymous PIK3CA c.2889G>A c.2889G>A(p.%3D) gtG/gtA chr3 178948117 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948117", "IGV") medium 0.862 891 no call pass 19993 PIK3CA_53 ENSG00000121879 20 of 21 32 FFPE ATAGT G/A ATTAG CMDL150438 FLD0256 FLD0280 intron PIK3CA c.2936+33G>A chr3 178948197 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948197", "IGV") low 0.170 826 no call QD 1020 PIK3CA_54 ENSG00000121879 20 of 20 5 FFPE ATAAA G/A AGTTC CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.3145G>A p.G1049S Ggt/Agt chr3 178952090 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178952090", "IGV") medium 0.334 1584 no call pass 8290 PIK3CA_57 ENSG00000121879 21 of 21 rs121913277, COSM12597, COSM777, COSM1168056, COSM446029, COSM1421012 tolerated(0.06) probably_damaging(0.958) 28 FFPE ATCAT G/A GTGGC CMDL150438 FLD0256 FLD0280 nonsynonymous PIK3CA c.475C>T p.P159S Cct/Tct chr3 178917600 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917600", "IGV") medium 0.957 135 pass no call 3120 PIK3CA_8 ENSG00000121879 3 of 21 rs770642656 tolerated(0.73) benign(0.001) 50 FFPE ATTCA C/T CTCAT CMDL150438 FLD0256 FLD0280 intron TP53 c.919+38G>A chr17 7576981 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576981", "IGV") medium 0.881 598 no call pass 11954 TP53_10 ENSG00000141510 8 of 10 rs747431888 29 FFPE GCACC C/T TTGGT CMDL150438 FLD0256 FLD0280 intron TP53 c.919+13G>A chr17 7577006 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577006", "IGV") low 1.000 10 pass no call 219 TP53_10 ENSG00000141510 8 of 10 rs769211481 54 FFPE CTTGT C/T CTGCT CMDL150438 FLD0256 FLD0280 synonymous TP53 c.879G>A c.879G>A(p.%3D) ggG/ggA chr17 7577059 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577059", "IGV") low 1.000 10 pass no call 422 TP53_10 ENSG00000141510 8 of 11 TP53_g.13859G>T, TP53_g.13859G>C, TP53_g.13859del, TP53_g.13859G>A, COSM44128, COSM45343, COSM44131 14 FFPE GGCTC C/T CCTTT CMDL150438 FLD0256 FLD0280 nonsynonymous TP53 c.878G>A p.G293E gGg/gAg chr17 7577060 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577060", "IGV") low 1.000 10 pass no call 422 TP53_10 ENSG00000141510 8 of 11 TP53_g.13858G>T, COSM46123 tolerated(1) benign(0.044) 13 FFPE GCTCC C/T CTTTC CMDL150438 FLD0256 FLD0280 nonsynonymous TP53 c.836G>A p.G279E gGg/gAg chr17 7577102 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577102", "IGV") medium 0.913 1763 no call pass 43959 TP53_12 ENSG00000141510 8 of 11 TP53_g.13816G>T, TP53_g.13816G>A, COSM43714, COSM46032, COSM99732, COSM3701289, COSM3701288 deleterious(0) probably_damaging(0.999) 25 FFPE CTCTC C/T CAGGA CMDL150438 FLD0256 FLD0280 nonsynonymous TP53 c.800G>A p.R267Q cGg/cAg chr17 7577138 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577138", "IGV") medium 0.916 1763 no call pass 45596 TP53_12 ENSG00000141510 8 of 11 rs587780075, CM921040, TP53_g.13780G>A, TP53_g.13780G>T, TP53_g.13780G>C, COSM11392, COSM13165, COSM87858, COSM43923, COSM131043, COSM131044, COSM327262, COSM707909, COSM1290766, COSM3691864, COSM3403257, COSM1646804, COSM3691863, COSM1649336 deleterious(0.01) probably_damaging(0.989) 59 FFPE TGTTC C/T GTCCC CMDL150438 FLD0256 FLD0280 synonymous TP53 c.513G>A c.513G>A(p.%3D) gaG/gaA chr17 7578417 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578417", "IGV") medium 0.997 761 no call pass 21627 TP53_19 ENSG00000141510 5 of 11 TP53_g.12501G>A, TP53_g.12501G>C, TP53_g.12501G>T, COSM255158, COSM45683, COSM44646, COSM437551, COSM437552, COSM437554, COSM437553 38 FFPE ACAAC C/T TCCGT CMDL150438 FLD0256 FLD0280 synonymous TP53 c.1167G>A c.1167G>A(p.%3D) ggG/ggA chr17 7572942 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7572942", "IGV") medium 0.671 987 pass no call 15375 TP53_2 ENSG00000141510 11 of 11 rs749817236 14 FFPE TCAGG C/T CCTTC CMDL150438 FLD0256 FLD0280 intron TP53 c.376-28C>T chr17 7578582 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578582", "IGV") medium 0.777 1927 no call pass 35186 TP53_21 ENSG00000141510 4 of 10 23 FFPE GAGTT G/A AAAGT CMDL150438 FLD0256 FLD0280 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") medium 1.000 280 pass no call 7965 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150438 FLD0256 FLD0280 nonsynonymous TP53 c.176G>A p.G59D gGt/gAt chr17 7579511 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579511", "IGV") medium 0.837 319 pass no call 6216 TP53_24 ENSG00000141510 4 of 11 TP53_g.11407G>A, COSM46106 tolerated(0.39) benign(0.002) 18 FFPE CTGGA C/T CTGGG CMDL150438 FLD0256 FLD0280 nonsynonymous TP53 c.124G>A p.D42N Gat/Aat chr17 7579563 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579563", "IGV") medium 0.318 306 no call pass 1561 TP53_24 ENSG00000141510 4 of 11 rs756847009, TP53_g.11355G>T, COSM46409 tolerated(0.2) benign(0.02) 44 FFPE CAAAT C/T ATCCA CMDL150438 FLD0256 FLD0280 nonsynonymous TP53 c.53C>T p.T18I aCa/aTa chr17 7579860 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579860", "IGV") low 0.857 14 no call pass 227 TP53_28 ENSG00000141510 2 of 11 deleterious(0) probably_damaging(0.988) 12 FFPE AAAAT G/A TTTCC CMDL150438 FLD0256 FLD0280 synonymous TP53 c.15G>A c.15G>A(p.%3D) caG/caA chr17 7579898 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7579898", "IGV") medium 0.973 293 pass no call 8041 TP53_28 ENSG00000141510 2 of 11 TP53_g.11020G>T, COSM45588 50 FFPE TCTGA C/T TGCGG CMDL150438 FLD0256 FLD0280 intron TP53 c.1101-16C>T chr17 7573024 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573024", "IGV") medium 0.863 374 no call pass 7749 TP53_3 ENSG00000141510 10 of 10 59 FFPE CAGAA G/A CAGGG CMDL150438 FLD0256 FLD0280 intron TP53 c.1101-69A>G chr17 7573077 T C =hyperlink("http://localhost:60151/goto?locus=chr17:7573077", "IGV") low 0.174 374 no call QD 328 TP53_3 ENSG00000141510 10 of 10 6 FFPE TTCCC T/C GACCA CMDL150438 FLD0256 FLD0280 intron TP53 c.993+196G>A chr17 7576657 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576657", "IGV") medium 0.214 777 no call pass 1824 TP53_7 ENSG00000141510 9 of 10 56 FFPE CTGGT C/T CTTTA CMDL150438 FLD0256 FLD0280 nonsynonymous TP53 c.976G>A p.E326K Gaa/Aaa chr17 7576870 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576870", "IGV") low 0.155 1298 QD no call 377 TP53_8 ENSG00000141510 9 of 11 TP53_g.14048G>A, TP53_g.14048G>T, COSM11570, COSM307332, COSM2744453, COSM3723941, COSM2744454 tolerated(0.11) probably_damaging(0.971) 39 FFPE ATATT C/T TCCAT CMDL150438 FLD0256 FLD0280 nonsynonymous TP53 c.937A>G p.S313G Agc/Ggc chr17 7576909 T C =hyperlink("http://localhost:60151/goto?locus=chr17:7576909", "IGV") medium 0.337 1706 pass no call 8945 TP53_9 ENSG00000141510 9 of 11 TP53_g.14009A>C, TP53_g.14009A>T, COSM1386580, COSM44931, COSM1386581 tolerated(0.06) benign(0.005) 23 FFPE GGAGC T/C GGTGT CMDL150438 FLD0256 FLD0280 synonymous TP53 c.930C>T c.930C>T(p.%3D) aaC/aaT chr17 7576916 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576916", "IGV") medium 0.922 1275 no call pass 33926 TP53_9 ENSG00000141510 9 of 11 30 FFPE GTGTT G/A TTGGG CMDL150439 FLD0257 FLD0281 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.435 0.203 1841 699 pass pass 16490 1495 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150439 FLD0257 FLD0281 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 1.000 1.000 392 199 pass pass 11041 5630 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150439 FLD0257 FLD0281 nonsynonymous ESR1 c.799C>T p.H267Y Cac/Tac chr6 152265346 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265346", "IGV") medium 0.512 1124 no call pass 11656 ESR1_12 ENSG00000091831 6 of 10 rs771681996 tolerated(0.12) benign(0.003) 8 FFPE TGAAA C/T ACAAG CMDL150439 FLD0257 FLD0281 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.839 0.684 1285 1326 pass pass 24611 20309 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150439 FLD0257 FLD0281 synonymous ESR1 c.1062G>A c.1062G>A(p.%3D) ctG/ctA chr6 152265609 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265609", "IGV") low 0.141 1832 no call QD 516 ESR1_15 ENSG00000091831 6 of 10 48 FFPE GAGCT G/A GTTCA CMDL150439 FLD0257 FLD0281 intron ESR1 c.1097-55C>T chr6 152332736 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152332736", "IGV") medium 0.253 1898 pass no call 5509 ESR1_16 ENSG00000091831 6 of 9 12 FFPE TTTCA C/T CAGTA CMDL150439 FLD0257 FLD0281 nonsynonymous ESR1 c.1250G>A p.C417Y tGt/tAt chr6 152382140 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382140", "IGV") medium 0.338 619 no call pass 3413 ESR1_19 ENSG00000091831 8 of 10 deleterious(0) probably_damaging(0.959) 40 FFPE AAAAT G/A TGTAG CMDL150439 FLD0257 FLD0281 nonsynonymous ESR1 c.1292C>T p.T431I aCa/aTa chr6 152382182 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152382182", "IGV") low 0.194 1075 no call QD 1740 ESR1_20 ENSG00000091831 8 of 10 deleterious(0) probably_damaging(0.932) 12 FFPE GGCTA C/T ATCAT CMDL150439 FLD0257 FLD0281 stop_gained ESR1 c.1321C>T p.Q441* Cag/Tag chr6 152382211 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152382211", "IGV") low 0.192 1075 no call QD 1727 ESR1_20 ENSG00000091831 8 of 10 41 FFPE ATCTG C/T AGGGA CMDL150439 FLD0257 FLD0281 nonsynonymous ESR1 c.1330G>A p.E444K Gag/Aag chr6 152382220 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382220", "IGV") low 0.160 1183 QD no call 1005 ESR1_20 ENSG00000091831 8 of 10 deleterious(0) probably_damaging(1) 50 FFPE GAGAG G/A AGTTT CMDL150439 FLD0257 FLD0281 nonsynonymous ESR1 c.1408G>A p.E470K Gaa/Aaa chr6 152415558 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415558", "IGV") medium 0.253 2352 pass no call 6926 ESR1_21 ENSG00000091831 9 of 10 rs770516501 deleterious(0.03) benign(0.107) 42 FFPE CTCTG G/A AAGAG CMDL150439 FLD0257 FLD0281 nonsynonymous ESR1 c.1477G>A p.A493T Gca/Aca chr6 152415627 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415627", "IGV") medium 0.733 650 no call pass 10093 ESR1_22 ENSG00000091831 9 of 10 tolerated(0.33) benign(0.014) 51 FFPE CCAAG G/A CAGGC CMDL150439 FLD0257 FLD0281 intron ESR1 c.1553+85G>A chr6 152415788 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415788", "IGV") medium 0.243 1633 no call pass 4347 ESR1_23 ENSG00000091831 9 of 9 rs149391135 A:0.0004 26 FFPE GACTG G/A TGCCT CMDL150439 FLD0257 FLD0281 intron ESR1 c.1554-16G>A chr6 152419851 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152419851", "IGV") medium 0.228 516 no call pass 1563 ESR1_24 ENSG00000091831 9 of 9 rs759867365 47 FFPE TCTGT G/A TCTTC CMDL150439 FLD0257 FLD0281 synonymous ESR1 c.1630C>T c.1630C>T(p.%3D) Ctg/Ttg chr6 152419943 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152419943", "IGV") medium 0.329 1558 no call pass 7565 ESR1_25 ENSG00000091831 10 of 10 34 FFPE AGATG C/T TGGAC CMDL150439 FLD0257 FLD0281 synonymous ESR1 c.1692C>T c.1692C>T(p.%3D) gaC/gaT chr6 152420005 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152420005", "IGV") medium 0.656 1677 pass no call 23095 ESR1_25 ENSG00000091831 10 of 10 23 FFPE ACGGA C/T CAAAG CMDL150439 FLD0257 FLD0281 synonymous ESR1 c.1782G>A c.1782G>A(p.%3D) acG/acA chr6 152420095 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420095", "IGV") high 0.444 0.690 2224 1869 pass pass 17930 29055 ESR1_26 20734064, 19693267, 18980759, 21429951, 15113403, 15157284, 19941161, 19094228, 19319135, 20375995, 19654868, 20304699, 24587880, 15268889, 17609999, 19760036, 18627768, 20172949, 24721264, 16504171, 18636479, 19175383, 20046055, 20383761, 24395301, 18385916, 19636371, 18424448, 19519176, 19860576, 19926619, 20128071, 20729390, 16199553, 23574728, 22224819, 25116933, 23805288, 24403849, 21092186, 24052609, 17498544, 16213680, 19036616, 18164902, 17509487 ENSG00000091831 10 of 10 rs2228480, CM056948, COSM3761556 A:0.1887 36 FFPE GCCAC G/A GTCTG CMDL150439 FLD0257 FLD0281 synonymous PIK3CA c.801G>A c.801G>A(p.%3D) ctG/ctA chr3 178919316 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919316", "IGV") low 0.139 1189 QD no call 502 PIK3CA_12 ENSG00000121879 4 of 21 COSM1308835, COSM1308834 54 FFPE CCTCT G/A AGTCA CMDL150439 FLD0257 FLD0281 intron PIK3CA c.814-15C>T chr3 178921317 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178921317", "IGV") medium 0.225 1969 pass no call 4450 PIK3CA_13 ENSG00000121879 4 of 20 rs201682277 6 FFPE GCCCC C/T TTAAT CMDL150439 FLD0257 FLD0281 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") medium 0.744 1.000 431 16 pass pass 7080 408 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 FFPE TCTTG C/A ACTAT CMDL150439 FLD0257 FLD0281 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.605 0.877 1566 1573 pass pass 21093 32444 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150439 FLD0257 FLD0281 intron PIK3CA c.1405-14C>T chr3 178928205 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178928205", "IGV") medium 0.447 592 pass no call 4744 PIK3CA_23 ENSG00000121879 8 of 20 4 FFPE CTTTT C/T TTCCA CMDL150439 FLD0257 FLD0281 intron PIK3CA c.1405-11C>T chr3 178928208 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178928208", "IGV") medium 0.470 1784 no call pass 15514 PIK3CA_24 ENSG00000121879 8 of 20 28 FFPE TTCTT C/T CATCT CMDL150439 FLD0257 FLD0281 nonsynonymous PIK3CA c.1447G>A p.V483M Gtg/Atg chr3 178928261 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928261", "IGV") medium 0.412 1346 no call pass 11003 PIK3CA_27 ENSG00000121879 9 of 21 tolerated(0.26) benign(0.021) 15 FFPE GCAGT G/A TGGTA CMDL150439 FLD0257 FLD0281 synonymous PIK3CA c.1455G>A c.1455G>A(p.%3D) aaG/aaA chr3 178928269 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928269", "IGV") medium 0.413 1346 no call pass 11470 PIK3CA_27 ENSG00000121879 9 of 21 rs200480523 23 FFPE GTAAA G/A TTCCC CMDL150439 FLD0257 FLD0281 nonsynonymous PIK3CA c.1712C>T p.S571F tCt/tTt chr3 178937031 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178937031", "IGV") low 0.176 2490 no call QD 2987 PIK3CA_29 ENSG00000121879 11 of 21 deleterious(0) possibly_damaging(0.789) 27 FFPE TCTGT C/T TGTTA CMDL150439 FLD0257 FLD0281 synonymous PIK3CA c.1743C>T c.1743C>T(p.%3D) gcC/gcT chr3 178937062 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178937062", "IGV") medium 0.280 1207 pass no call 4290 PIK3CA_30 ENSG00000121879 11 of 21 rs370692448 38 FFPE GTAGC C/T CAGGT CMDL150439 FLD0257 FLD0281 intron PIK3CA c.1912-12G>A chr3 178937725 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178937725", "IGV") low 0.119 1559 MQRankSum,QD no call 32 PIK3CA_35 ENSG00000121879 12 of 20 23 FFPE TTTTT G/A GAATC CMDL150439 FLD0257 FLD0281 nonsynonymous PIK3CA c.2279A>G p.Q760R cAa/cGa chr3 178941960 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178941960", "IGV") low 0.152 965 no call QD 743 PIK3CA_42 ENSG00000121879 15 of 21 tolerated(0.65) benign(0.001) 49 FFPE TCATC A/G ACTAG CMDL150439 FLD0257 FLD0281 nonsynonymous PIK3CA c.2318C>T p.S773F tCc/tTc chr3 178942511 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178942511", "IGV") medium 0.232 185 no call pass 448 PIK3CA_43 ENSG00000121879 16 of 21 COSM3915407, COSM3915406 deleterious(0.02) possibly_damaging(0.679) 53 FFPE TATGT C/T CTCTG CMDL150439 FLD0257 FLD0281 synonymous PIK3CA c.2343G>A c.2343G>A(p.%3D) ttG/ttA chr3 178942536 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178942536", "IGV") medium 0.619 1050 pass no call 14455 PIK3CA_43 ENSG00000121879 16 of 21 33 FFPE TGGTT G/A AATTG CMDL150439 FLD0257 FLD0281 nonsynonymous PIK3CA c.2356C>T p.P786S Cca/Tca chr3 178942549 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178942549", "IGV") low 0.232 185 no call QD 364 PIK3CA_43 ENSG00000121879 16 of 21 tolerated(0.05) possibly_damaging(0.625) 20 FFPE AGAAC C/T CAGAC CMDL150439 FLD0257 FLD0281 intron PIK3CA c.2495+18C>T chr3 178943846 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178943846", "IGV") low 0.123 1088 QD no call 116 PIK3CA_45 ENSG00000121879 17 of 20 3 FFPE TAAGG C/T AACCT CMDL150439 FLD0257 FLD0281 intron PIK3CA c.2496-50C>T chr3 178947010 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947010", "IGV") medium 0.238 1187 no call pass 3111 PIK3CA_46 ENSG00000121879 17 of 20 9 FFPE ATTTG C/T TATTT CMDL150439 FLD0257 FLD0281 intron PIK3CA c.2666+24C>T chr3 178947254 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178947254", "IGV") low 0.193 2056 no call QD 2913 PIK3CA_48 ENSG00000121879 18 of 20 54 FFPE TCTTC C/T TATGT CMDL150439 FLD0257 FLD0281 intron PIK3CA c.352+29C>T chr3 178916994 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916994", "IGV") low 0.141 642 QD no call 476 PIK3CA_5 ENSG00000121879 2 of 20 14 FFPE AAATG C/T AAATA CMDL150439 FLD0257 FLD0281 nonsynonymous PIK3CA c.2735G>A p.G912E gGa/gAa chr3 178947860 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947860", "IGV") low 0.162 1891 QD no call 1166 PIK3CA_50 ENSG00000121879 19 of 21 deleterious(0) probably_damaging(1) 45 FFPE TTTGG G/A AATTG CMDL150439 FLD0257 FLD0281 synonymous PIK3CA c.2874G>A c.2874G>A(p.%3D) caG/caA chr3 178948102 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948102", "IGV") low 0.131 1517 QD no call 160 PIK3CA_54 ENSG00000121879 20 of 21 13 FFPE ACACA G/A GATTT CMDL150439 FLD0257 FLD0281 nonsynonymous PIK3CA c.2908G>A p.E970K Gaa/Aaa chr3 178948136 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948136", "IGV") low 0.171 1302 no call QD 1373 PIK3CA_54 ENSG00000121879 20 of 21 COSM94980, COSM94981 tolerated(0.51) benign(0.05) 47 FFPE CCCAA G/A AATGC CMDL150439 FLD0257 FLD0281 nonsynonymous PIK3CA c.2949G>A p.M983I atG/atA chr3 178951894 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178951894", "IGV") medium 0.301 3361 pass no call 14261 PIK3CA_55 ENSG00000121879 21 of 21 rs369697984, COSM328017 tolerated(0.13) benign(0.034) 34 FFPE GAGAT G/A TGTTA CMDL150439 FLD0257 FLD0281 nonsynonymous PIK3CA c.3023C>T p.S1008F tCt/tTt chr3 178951968 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178951968", "IGV") low 0.231 26 no call QD 43 PIK3CA_56 ENSG00000121879 21 of 21 COSM249141, COSM1235326, COSM1420938 deleterious(0.02) possibly_damaging(0.882) 8 FFPE TGGCT C/T TGGAA CMDL150439 FLD0257 FLD0281 synonymous PIK3CA c.435C>T c.435C>T(p.%3D) aaC/aaT chr3 178917560 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917560", "IGV") medium 0.258 1666 no call pass 5063 PIK3CA_8 ENSG00000121879 3 of 21 rs1051404, COSM3846784 23 FFPE CTGAA C/T GTTTG CMDL150439 FLD0257 FLD0281 nonsynonymous PIK3CA c.496G>A p.V166I Gtc/Atc chr3 178917621 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178917621", "IGV") low 0.148 1549 no call QD 983 PIK3CA_9 ENSG00000121879 3 of 21 tolerated(0.2) possibly_damaging(0.554) 13 FFPE TGTAT G/A TCTAT CMDL150439 FLD0257 FLD0281 nonsynonymous PIK3CA c.502C>T p.P168S Cct/Tct chr3 178917627 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917627", "IGV") medium 0.255 1549 no call pass 5207 PIK3CA_9 ENSG00000121879 3 of 21 deleterious(0.01) probably_damaging(0.989) 19 FFPE TCTAT C/T CTCCA CMDL150439 FLD0257 FLD0281 synonymous TP53 c.861G>A c.861G>A(p.%3D) gaG/gaA chr17 7577077 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577077", "IGV") low 0.166 2096 no call QD 1874 TP53_11 ENSG00000141510 8 of 11 rs748891343, TP53_g.13841G>T, TP53_g.13841G>A, TP53_g.13841G>C, COSM43776, COSM44077, COSM46366 51 FFPE AGATT C/T TCTTC CMDL150439 FLD0257 FLD0281 synonymous TP53 c.849C>T c.849C>T(p.%3D) cgC/cgT chr17 7577089 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577089", "IGV") low 0.150 2498 QD no call 2458 TP53_11 ENSG00000141510 8 of 11 TP53_g.13829del, TP53_g.13829C>T, TP53_g.13829C>G, TP53_g.13829C>A, COSM43977, COSM45461, COSM44434, COSM44968 39 FFPE TCTGT G/A CGCCG CMDL150439 FLD0257 FLD0281 nonsynonymous TP53 c.844C>T p.R282W Cgg/Tgg chr17 7577094 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577094", "IGV") low 0.151 2498 QD no call 2559 TP53_11 25105660, 25404506, 22536362 ENSG00000141510 8 of 11 CM920678, CM056413, rs28934574, TP53_g.13824C>A, TP53_g.13824C>G, TP53_g.13824C>T, TP53_g.13824del, COSM43813, COSM10704, COSM10992, COSM44918, COSM99925, COSM99934, COSM3378339, COSM3675520, COSM1725698, COSM1636702 deleterious(0) probably_damaging(0.997) likely_benign,pathogenic 34 FFPE GCGCC G/A GTCTC CMDL150439 FLD0257 FLD0281 intron TP53 c.783-14C>T chr17 7577169 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577169", "IGV") low 0.163 1084 QD no call 943 TP53_12 ENSG00000141510 7 of 10 rs774987850 28 FFPE GATAG G/A AAAAG CMDL150439 FLD0257 FLD0281 nonsynonymous TP53 c.523C>T p.R175C Cgc/Tgc chr17 7578407 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578407", "IGV") medium 0.561 1405 pass no call 16212 TP53_18 ENSG00000141510 5 of 11 CM118880, rs138729528, CM011013, TP53_g.12511del, TP53_g.12511C>A, TP53_g.12511C>T, TP53_g.12511C>G, COSM10870, COSM43680, COSM43931, COSM45936, COSM707880, COSM179827, COSM707881, COSM179826, COSM707883, COSM179828, COSM4070040, COSM3691867, COSM1640852, COSM3691866, COSM179829, COSM707882 deleterious(0) probably_damaging(0.993) A:0.0002 22 FFPE GCAGC G/A CCTCA CMDL150439 FLD0257 FLD0281 nonsynonymous TP53 c.511G>A p.E171K Gag/Aag chr17 7578419 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578419", "IGV") medium 0.280 1207 no call pass 5140 TP53_19 ENSG00000141510 5 of 11 rs587781845, TP53_g.12499G>C, TP53_g.12499G>T, TP53_g.12499del, TP53_g.12499G>A, COSM10996, COSM44312, COSM46095, COSM45751, COSM417964, COSM357723, COSM357724, COSM417965, COSM417967, COSM357726, COSM3421937, COSM4070042, COSM2744871, COSM4070041, COSM357725, COSM417966 deleterious(0.03) possibly_damaging(0.738) uncertain_significance 40 FFPE AACCT C/T CGTCA CMDL150439 FLD0257 FLD0281 synonymous TP53 c.1134C>T c.1134C>T(p.%3D) tcC/tcT chr17 7572975 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572975", "IGV") low 0.131 2248 QD no call 91 TP53_2 ENSG00000141510 11 of 11 36 FFPE TGGCG G/A GAGGT CMDL150439 FLD0257 FLD0281 nonsynonymous TP53 c.382C>T p.P128S Cct/Tct chr17 7578548 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578548", "IGV") low 0.210 1142 QD no call 2217 TP53_20 ENSG00000141510 5 of 11 TP53_g.12370del, TP53_g.12370C>G, TP53_g.12370C>T, COSM44396, COSM44397, COSM44734 deleterious(0.03) probably_damaging(0.987) 6 FFPE GGCAG G/A GGAGT CMDL150439 FLD0257 FLD0281 synonymous TP53 c.324T>C c.324T>C(p.%3D) ggT/ggC chr17 7579363 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7579363", "IGV") low 0.123 1182 QD no call 100 TP53_22 ENSG00000141510 4 of 11 TP53_g.11555T>C, COSM46109, COSM1172518, COSM1172519, COSM1386865, COSM1172520, COSM1386866 33 FFPE CGGAA A/G CCGTA CMDL150439 FLD0257 FLD0281 synonymous TP53 c.222C>T c.222C>T(p.%3D) gcC/gcT chr17 7579465 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579465", "IGV") medium 0.758 945 pass no call 16103 TP53_23 ENSG00000141510 4 of 11 TP53_g.11453C>T, COSM46098 37 FFPE GCAGG G/A GCCAC CMDL150439 FLD0257 FLD0281 synonymous TP53 c.216C>T c.216C>T(p.%3D) ccC/ccT chr17 7579471 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579471", "IGV") low 0.190 518 no call QD 845 TP53_23 ENSG00000141510 4 of 11 COSM18569, COSM1268331, COSM1268332 31 FFPE GCCAC G/A GGGGG CMDL150439 FLD0257 FLD0281 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.996 0.998 945 518 pass pass 38434 15945 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150439 FLD0257 FLD0281 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") low 1.000 1.000 58 24 pass pass 1423 550 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150439 FLD0257 FLD0281 intron TP53 c.1101-57C>T chr17 7573065 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573065", "IGV") medium 0.619 1168 pass no call 15007 TP53_3 ENSG00000141510 10 of 10 18 FFPE TCTGT G/A CCCCT CMDL150439 FLD0257 FLD0281 stop_gained TP53 c.1024C>T p.R342* Cga/Tga chr17 7574003 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7574003", "IGV") low 0.197 2705 no call QD 5151 TP53_5 ENSG00000141510 10 of 11 rs730882029, CM004908, TP53_g.16915del, TP53_g.16915C>T, COSM11073, COSM45639, COSM18597, COSM99721, COSM128665 pathogenic 21 FFPE CTCTC G/A GAACA CMDL150439 FLD0257 FLD0281 intron TP53 c.993+144G>A chr17 7576709 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576709", "IGV") medium 0.212 1969 pass no call 4475 TP53_7 ENSG00000141510 9 of 10 11 FFPE AGCTA C/T AACCA CMDL150439 FLD0257 FLD0281 synonymous TP53 c.957G>A c.957G>A(p.%3D) aaG/aaA chr17 7576889 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576889", "IGV") medium 0.470 1233 pass no call 11246 TP53_8 ENSG00000141510 9 of 11 TP53_g.14029G>T, COSM43800 57 FFPE TTCTT C/T TTTGG CMDL150440 FLD0258 FLD0282 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.528 0.543 2086 1559 pass pass 21616 17089 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150440 FLD0258 FLD0282 synonymous ESR1 c.672C>T c.672C>T(p.%3D) acC/acT chr6 152201818 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152201818", "IGV") medium 0.229 967 no call pass 2419 ESR1_11 ENSG00000091831 5 of 10 28 FFPE GCCAC C/T AACCA CMDL150440 FLD0258 FLD0282 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.997 0.986 882 967 pass pass 24952 28022 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150440 FLD0258 FLD0282 nonsynonymous ESR1 c.860G>A p.R287K aGa/aAa chr6 152265407 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265407", "IGV") low 0.163 1997 QD no call 1217 ESR1_13 ENSG00000091831 6 of 10 tolerated(0.26) possibly_damaging(0.717) 45 FFPE CATGA G/A AGCTG CMDL150440 FLD0258 FLD0282 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.993 0.998 1275 1209 pass pass 36365 36894 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150440 FLD0258 FLD0282 intron ESR1 c.1236-10G>A chr6 152382116 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152382116", "IGV") low 0.143 1318 QD no call 373 ESR1_19 ENSG00000091831 7 of 9 56 FFPE GCTAT G/A TTTTC CMDL150440 FLD0258 FLD0282 nonsynonymous ESR1 c.1337T>C p.V446A gTg/gCg chr6 152382227 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152382227", "IGV") low 0.152 1889 QD no call 1198 ESR1_20 ENSG00000091831 8 of 10 deleterious(0.01) possibly_damaging(0.89) 57 FFPE GTTTG T/C GTGCC CMDL150440 FLD0258 FLD0282 intron ESR1 c.1370-24C>T chr6 152415496 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415496", "IGV") low 0.121 2300 no call QD 71 ESR1_21 ENSG00000091831 8 of 9 12 FFPE TCTCT C/T TCACT CMDL150440 FLD0258 FLD0282 intron ESR1 c.1370-22C>T chr6 152415498 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415498", "IGV") low 0.121 2300 no call QD 3297 ESR1_21 ENSG00000091831 8 of 9 14 FFPE TCTCT C/T ACTCT CMDL150440 FLD0258 FLD0282 nonsynonymous ESR1 c.1570C>T p.H524Y Cat/Tat chr6 152419883 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152419883", "IGV") low 0.149 1645 no call QD 615 ESR1_24 ENSG00000091831 10 of 10 deleterious(0) probably_damaging(1) 39 FFPE TGGAG C/T ATCTG CMDL150440 FLD0258 FLD0282 synonymous ESR1 c.144G>A c.144G>A(p.%3D) aaG/aaA chr6 152129191 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129191", "IGV") low 0.176 1113 QD no call 1319 ESR1_3 ENSG00000091831 3 of 10 rs760465612 46 FFPE AGCAA G/A CCCGC CMDL150440 FLD0258 FLD0282 nonsynonymous ESR1 c.248G>A p.G83E gGg/gAg chr6 152129295 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129295", "IGV") low 0.144 2281 no call QD 623 ESR1_4 ENSG00000091831 3 of 10 tolerated(0.16) benign(0.371) 25 FFPE CCCCG G/A GTCTG CMDL150440 FLD0258 FLD0282 splice_region,intron ESR1 c.453-6C>T chr6 152163726 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163726", "IGV") low 0.122 1983 no call QD 509 ESR1_7 ENSG00000091831 3 of 9 57 FFPE TTTCC C/T CCCAG CMDL150440 FLD0258 FLD0282 splice_region,intron ESR1 c.453-3C>T chr6 152163729 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163729", "IGV") low 0.123 1983 no call QD 523 ESR1_7 ENSG00000091831 3 of 9 58 FFPE CCCCC C/T AGGCC CMDL150440 FLD0258 FLD0282 nonsynonymous PIK3CA c.646G>A p.V216I Gta/Ata chr3 178919161 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919161", "IGV") medium 0.257 2356 no call pass 7735 PIK3CA_10 ENSG00000121879 4 of 21 tolerated(0.37) benign(0.077) 11 FFPE ACTGT G/A TACCA CMDL150440 FLD0258 FLD0282 nonsynonymous PIK3CA c.658G>A p.V220I Gta/Ata chr3 178919173 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919173", "IGV") low 0.169 2112 no call QD 1723 PIK3CA_11 ENSG00000121879 4 of 21 tolerated(0.2) benign(0.165) 7 FFPE AACAA G/A TAATT CMDL150440 FLD0258 FLD0282 synonymous PIK3CA c.697T>C c.697T>C(p.%3D) Ttg/Ctg chr3 178919212 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178919212", "IGV") low 0.168 2112 no call QD 1685 PIK3CA_11 ENSG00000121879 4 of 21 rs756008565 46 FFPE GTATG T/C TGCTA CMDL150440 FLD0258 FLD0282 nonsynonymous PIK3CA c.94G>A p.V32M Gtg/Atg chr3 178916707 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916707", "IGV") low 0.132 2304 no call QD 297 PIK3CA_2 ENSG00000121879 2 of 21 deleterious(0.01) benign(0.398) 43 FFPE TGATA G/A TGACT CMDL150440 FLD0258 FLD0282 nonsynonymous PIK3CA c.1261C>T p.P421S Cca/Tca chr3 178927983 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178927983", "IGV") medium 0.205 1226 pass no call 2481 PIK3CA_21 ENSG00000121879 8 of 21 tolerated(0.1) benign(0.178) 21 FFPE ACTGT C/T CATTG CMDL150440 FLD0258 FLD0282 nonsynonymous PIK3CA c.1316G>A p.G439E gGa/gAa chr3 178928038 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928038", "IGV") medium 0.208 909 no call pass 1841 PIK3CA_22 ENSG00000121879 8 of 21 tolerated(0.2) benign(0.099) 49 FFPE ATCTG G/A AAAAA CMDL150440 FLD0258 FLD0282 nonsynonymous PIK3CA c.1735G>A p.E579K Gaa/Aaa chr3 178937054 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178937054", "IGV") medium 0.209 1213 pass no call 2746 PIK3CA_30 ENSG00000121879 11 of 21 tolerated(0.2) benign(0.077) 30 FFPE GAGAT G/A AAGTA CMDL150440 FLD0258 FLD0282 nonsynonymous PIK3CA c.257C>T p.T86I aCa/aTa chr3 178916870 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916870", "IGV") low 0.139 965 no call QD 292 PIK3CA_4 ENSG00000121879 2 of 21 tolerated(0.08) possibly_damaging(0.882) 44 FFPE TGAAA C/T AAGAC CMDL150440 FLD0258 FLD0282 splice_donor PIK3CA c.2294+1G>A chr3 178941976 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178941976", "IGV") low 0.211 1532 QD no call 2927 PIK3CA_42 ENSG00000121879 15 of 20 45 FFPE CTCAG G/A TACTT CMDL150440 FLD0258 FLD0282 intron PIK3CA c.2294+13G>A chr3 178941988 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178941988", "IGV") medium 0.238 1532 pass no call 4468 PIK3CA_42 ENSG00000121879 15 of 20 33 FFPE CTTGG G/A GGTTT CMDL150440 FLD0258 FLD0282 synonymous PIK3CA c.2394G>A c.2394G>A(p.%3D) gaG/gaA chr3 178942587 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178942587", "IGV") low 0.148 2137 no call QD 876 PIK3CA_44 ENSG00000121879 16 of 21 19 FFPE AATGA G/A ATCAT CMDL150440 FLD0258 FLD0282 splice_region,intron PIK3CA c.2785-5G>A chr3 178948008 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948008", "IGV") medium 0.513 1852 pass no call 18544 PIK3CA_52 ENSG00000121879 19 of 20 45 FFPE TTTTT G/A AAAGC CMDL150440 FLD0258 FLD0282 synonymous PIK3CA c.2904C>T c.2904C>T(p.%3D) gcC/gcT chr3 178948132 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178948132", "IGV") medium 0.226 1483 no call pass 3288 PIK3CA_54 ENSG00000121879 20 of 21 43 FFPE GGAGC C/T CAAGA CMDL150440 FLD0258 FLD0282 nonsynonymous PIK3CA c.3080C>T p.A1027V gCc/gTc chr3 178952025 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178952025", "IGV") medium 0.280 100 no call pass 365 PIK3CA_56 ENSG00000121879 21 of 21 tolerated(0.05) benign(0.223) 49 FFPE CCTAG C/T CTTAG CMDL150440 FLD0258 FLD0282 intron PIK3CA c.353-73C>T chr3 178917405 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917405", "IGV") low 0.192 1525 no call QD 2625 PIK3CA_6 ENSG00000121879 2 of 20 2 FFPE GTTCC C/T TGTTT CMDL150440 FLD0258 FLD0282 3_prime_UTR TP53 c.*8C>T chr17 7572919 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572919", "IGV") low 0.131 1222 QD no call 236 TP53_1 ENSG00000141510 11 of 11 49 FFPE GAAGT G/A GAGAA CMDL150440 FLD0258 FLD0282 nonsynonymous TP53 c.904G>A p.G302R Ggg/Agg chr17 7577034 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577034", "IGV") medium 0.219 1919 pass no call 4270 TP53_10 ENSG00000141510 8 of 11 TP53_g.13884G>A, TP53_g.13884del, COSM44237, COSM1386586, COSM1386587 tolerated(0.12) benign(0.033) 39 FFPE GCTCC C/T TGGGG CMDL150440 FLD0258 FLD0282 nonsynonymous TP53 c.251C>T p.A84V gCc/gTc chr17 7579436 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579436", "IGV") low 0.143 916 no call QD 439 TP53_23 ENSG00000141510 4 of 11 TP53_g.11482C>G, TP53_g.11482C>T, COSM44075, COSM44194 tolerated(0.31) benign(0.023) 47 FFPE CAGGG G/A CCGCC CMDL150440 FLD0258 FLD0282 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.995 0.994 1193 917 pass pass 33007 29002 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150440 FLD0258 FLD0282 intron TP53 c.97-18C>T chr17 7579608 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579608", "IGV") medium 0.644 166 no call pass 2187 TP53_25 ENSG00000141510 3 of 10 32 FFPE GAAAA G/A AGCAG CMDL150440 FLD0258 FLD0282 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 1.000 0.996 194 268 pass pass 5817 7097 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150440 FLD0258 FLD0282 nonsynonymous TP53 c.1135C>T p.R379C Cgc/Tgc chr17 7572974 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7572974", "IGV") medium 0.221 1217 pass no call 2533 TP53_3 ENSG00000141510 11 of 11 rs749061599 tolerated(0.17) benign(0.005) uncertain_significance 12 FFPE ATGGC G/A GGAGG CMDL150440 FLD0258 FLD0282 intron TP53 c.993+352C>T chr17 7576501 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576501", "IGV") high 0.967 0.598 1379 1329 pass pass 33471 16737 TP53_6 ENSG00000141510 9 of 10 rs77697176 A:0.0156 5 FFPE TAGGT G/A TATTA CMDL150440 FLD0258 FLD0282 intron TP53 c.993+271G>A chr17 7576582 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576582", "IGV") medium 0.341 1329 no call pass 7494 TP53_6 ENSG00000141510 9 of 10 25 FFPE AGTAG C/T ATCTG CMDL150441 FLD0259 FLD0283 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.446 0.631 1719 1427 pass pass 14138 21356 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150441 FLD0259 FLD0283 nonsynonymous ESR1 c.660G>A p.M220I atG/atA chr6 152201806 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152201806", "IGV") low 0.131 2240 QD no call 42 ESR1_10 ENSG00000091831 5 of 10 tolerated(1) benign(0.019) 14 FFPE TATAT G/A TGTCC CMDL150441 FLD0259 FLD0283 nonsynonymous,splice_region ESR1 c.646C>T p.H216Y Cat/Tat chr6 152201792 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152201792", "IGV") low 0.154 717 QD no call 506 ESR1_11 ENSG00000091831 5 of 10 deleterious(0) probably_damaging(0.99) 2 FFPE TAGGA C/T ATAAC CMDL150441 FLD0259 FLD0283 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 1.000 0.995 717 1002 pass pass 24884 29000 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150441 FLD0259 FLD0283 synonymous ESR1 c.810G>A c.810G>A(p.%3D) caG/caA chr6 152265357 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265357", "IGV") low 0.164 1455 no call QD 1179 ESR1_13 ENSG00000091831 6 of 10 17 FFPE CGCCA G/A AGAGA CMDL150441 FLD0259 FLD0283 synonymous ESR1 c.915C>T c.915C>T(p.%3D) agC/agT chr6 152265462 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265462", "IGV") low 0.153 1090 QD no call 242 ESR1_14 ENSG00000091831 6 of 10 12 FFPE AACAG C/T CTGGC CMDL150441 FLD0259 FLD0283 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.995 0.990 1090 907 pass pass 31301 25802 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150441 FLD0259 FLD0283 synonymous ESR1 c.105G>A c.105G>A(p.%3D) ctG/ctA chr6 152129152 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129152", "IGV") medium 0.254 873 no call pass 2618 ESR1_2 ENSG00000091831 3 of 10 55 FFPE CCCCT G/A GAGCG CMDL150441 FLD0259 FLD0283 nonsynonymous ESR1 c.124G>A p.V42M Gtg/Atg chr6 152129171 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129171", "IGV") low 0.169 873 no call QD 665 ESR1_2 ENSG00000091831 3 of 10 tolerated(1) benign(0.038) 52 FFPE GCGAG G/A TGTAC CMDL150441 FLD0259 FLD0283 synonymous ESR1 c.1386G>A c.1386G>A(p.%3D) ctG/ctA chr6 152415536 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415536", "IGV") low 0.149 1746 no call QD 797 ESR1_21 ENSG00000091831 9 of 10 52 FFPE TTTCT G/A TCCAG CMDL150441 FLD0259 FLD0283 stop_gained PIK3CA c.10C>T p.R4* Cga/Tga chr3 178916623 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916623", "IGV") low 0.173 761 QD no call 1087 PIK3CA_1 ENSG00000121879 2 of 21 rs1051397, COSM2156764 50 FFPE CTCCA C/T GACCA CMDL150441 FLD0259 FLD0283 nonsynonymous PIK3CA c.64G>A p.V22I Gta/Ata chr3 178916677 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916677", "IGV") low 0.182 761 QD no call 911 PIK3CA_1 ENSG00000121879 2 of 21 rs748316866 deleterious(0.01) possibly_damaging(0.906) 7 FFPE TCCTA G/A TAGAA CMDL150441 FLD0259 FLD0283 synonymous PIK3CA c.930C>T c.930C>T(p.%3D) cgC/cgT chr3 178921448 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178921448", "IGV") medium 0.247 1350 no call pass 3823 PIK3CA_14 ENSG00000121879 5 of 21 33 FFPE AGACG C/T ATTTC CMDL150441 FLD0259 FLD0283 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") medium 0.955 661 no call pass 15172 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 FFPE TCTTG C/A ACTAT CMDL150441 FLD0259 FLD0283 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.381 0.361 1702 1136 pass pass 10810 6819 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150441 FLD0259 FLD0283 splice_donor PIK3CA c.1145+1G>A chr3 178922377 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178922377", "IGV") medium 0.420 1946 pass no call 14412 PIK3CA_18 ENSG00000121879 6 of 20 41 FFPE CCCAG G/A TAAGG CMDL150441 FLD0259 FLD0283 nonsynonymous PIK3CA c.1385C>T p.T462I aCt/aTt chr3 178928107 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178928107", "IGV") medium 0.240 968 no call pass 2843 PIK3CA_23 ENSG00000121879 8 of 21 tolerated(0.14) benign(0.284) 14 FFPE TGTTA C/T TGGAT CMDL150441 FLD0259 FLD0283 nonsynonymous PIK3CA c.1450G>A p.V484I Gta/Ata chr3 178928264 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928264", "IGV") medium 0.216 1637 no call pass 3554 PIK3CA_27 ENSG00000121879 9 of 21 tolerated(0.33) benign(0.124) 18 FFPE GTGTG G/A TAAAG CMDL150441 FLD0259 FLD0283 splice_region,synonymous PIK3CA c.1539G>A c.1539G>A(p.%3D) ctG/ctA chr3 178928353 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178928353", "IGV") low 0.140 2397 QD no call 606 PIK3CA_28 ENSG00000121879 9 of 21 19 FFPE GGACT G/A GTAAG CMDL150441 FLD0259 FLD0283 stop_gained PIK3CA c.1722G>A p.W574* tgG/tgA chr3 178937041 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178937041", "IGV") medium 0.383 384 pass no call 2604 PIK3CA_30 ENSG00000121879 11 of 21 17 FFPE AAATG G/A AATTC CMDL150441 FLD0259 FLD0283 splice_region,synonymous PIK3CA c.1746G>A c.1746G>A(p.%3D) caG/caA chr3 178937065 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178937065", "IGV") low 0.161 688 no call QD 688 PIK3CA_30 ENSG00000121879 11 of 21 41 FFPE GCCCA G/A GTAAA CMDL150441 FLD0259 FLD0283 intron PIK3CA c.2188-28A>G chr3 178941841 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178941841", "IGV") low 0.165 1906 QD no call 1836 PIK3CA_41 ENSG00000121879 14 of 20 32 FFPE TTCTT A/G CTGTG CMDL150441 FLD0259 FLD0283 nonsynonymous PIK3CA c.2206G>A p.V736I Gtt/Att chr3 178941887 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178941887", "IGV") medium 0.269 1733 no call pass 9203 PIK3CA_41 ENSG00000121879 15 of 21 tolerated(0.39) benign(0.003) 30 FFPE TTTTA G/A TTGAG CMDL150441 FLD0259 FLD0283 synonymous PIK3CA c.2220G>A c.2220G>A(p.%3D) agG/agA chr3 178941901 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178941901", "IGV") medium 0.265 1733 no call pass 9018 PIK3CA_41 ENSG00000121879 15 of 21 rs755226907 16 FFPE ATGAG G/A CGACC CMDL150441 FLD0259 FLD0283 intron PIK3CA c.2416+30G>A chr3 178942639 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178942639", "IGV") low 0.192 1537 no call QD 2555 PIK3CA_44 ENSG00000121879 16 of 20 rs199546630 44 FFPE ATGAT G/A CATGA CMDL150441 FLD0259 FLD0283 intron PIK3CA c.2416+72C>T chr3 178942681 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178942681", "IGV") low 0.147 1537 no call QD 153 PIK3CA_44 ENSG00000121879 16 of 20 2 FFPE ATGAA C/T CATGA CMDL150441 FLD0259 FLD0283 synonymous PIK3CA c.2688G>A c.2688G>A(p.%3D) ctG/ctA chr3 178947813 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947813", "IGV") low 0.134 1835 QD no call 413 PIK3CA_50 ENSG00000121879 19 of 21 10 FFPE GACCT G/A TTTAC CMDL150441 FLD0259 FLD0283 nonsynonymous PIK3CA c.2743G>A p.D915N Gat/Aat chr3 178947868 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947868", "IGV") medium 0.327 1436 no call pass 7391 PIK3CA_50 ENSG00000121879 19 of 21 tolerated(0.06) possibly_damaging(0.754) 37 FFPE TTGGA G/A ATCGT CMDL150441 FLD0259 FLD0283 splice_donor PIK3CA c.2936+1G>A chr3 178948165 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948165", "IGV") low 0.215 1640 QD no call 3249 PIK3CA_54 ENSG00000121879 20 of 20 37 FFPE GAGAG G/A TGAGC CMDL150441 FLD0259 FLD0283 nonsynonymous PIK3CA c.3001C>T p.L1001F Ctt/Ttt chr3 178951946 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178951946", "IGV") low 0.162 2779 QD no call 1762 PIK3CA_55 ENSG00000121879 21 of 21 COSM29095 deleterious(0) probably_damaging(1) 30 FFPE TAAAT C/T TTTTC CMDL150441 FLD0259 FLD0283 nonsynonymous PIK3CA c.3133G>A p.D1045N Gat/Aat chr3 178952078 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178952078", "IGV") low 0.132 1954 no call QD 42 PIK3CA_57 ENSG00000121879 21 of 21 COSM25086, COSM1421002 tolerated(0.17) benign(0.287) 16 FFPE TGAAT G/A ATGCA CMDL150441 FLD0259 FLD0283 nonsynonymous PIK3CA c.521C>T p.S174L tCa/tTa chr3 178917646 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917646", "IGV") low 0.127 2226 QD no call 267 PIK3CA_9 ENSG00000121879 3 of 21 deleterious(0.01) benign(0.285) 38 FFPE ATCTT C/T ACCAG CMDL150441 FLD0259 FLD0283 intron TP53 c.782+73C>T chr17 7577426 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577426", "IGV") low 0.132 1922 no call QD 194 TP53_13 ENSG00000141510 7 of 10 20 FFPE AGGTG G/A GCCCA CMDL150441 FLD0259 FLD0283 intron TP53 c.560-35C>T chr17 7578324 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578324", "IGV") medium 0.403 963 no call pass 6660 TP53_17 ENSG00000141510 5 of 10 52 FFPE CTGGG G/A ACCCT CMDL150441 FLD0259 FLD0283 nonsynonymous TP53 c.535C>T p.H179Y Cat/Tat chr17 7578395 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578395", "IGV") low 0.174 2061 QD no call 2222 TP53_18 ENSG00000141510 5 of 11 rs587780070, CM067054, TP53_g.12523C>G, TP53_g.12523C>T, TP53_g.12523C>A, TP53_g.12523del, COSM10768, COSM45520, COSM44776, COSM44151, COSM707884, COSM326728, COSM129848, COSM129849, COSM326727, COSM707885, COSM129851, COSM707887, COSM326729, COSM3388203, COSM3958834, COSM1709730, COSM2744838, COSM129850, COSM707886, COSM326730 deleterious(0) probably_damaging(1) pathogenic 34 FFPE CTCAT G/A GTGGG CMDL150441 FLD0259 FLD0283 nonsynonymous TP53 c.497C>T p.S166L tCa/tTa chr17 7578433 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578433", "IGV") low 0.192 1461 QD no call 2089 TP53_19 ENSG00000141510 5 of 11 TP53_g.12485C>A, TP53_g.12485C>G, TP53_g.12485C>T, COSM44467, COSM11508, COSM44289, COSM369074, COSM1386809, COSM1386810, COSM369075, COSM1386812, COSM369077, COSM1649382, COSM1386811, COSM369076 tolerated(0.05) benign(0.225) 52 FFPE GCTGT G/A ACTGC CMDL150441 FLD0259 FLD0283 nonsynonymous TP53 c.269C>T p.S90F tCc/tTc chr17 7579418 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579418", "IGV") low 0.146 421 QD no call 46 TP53_23 ENSG00000141510 4 of 11 TP53_g.11500C>T, TP53_g.11500C>A, COSM46099 tolerated(0.18) possibly_damaging(0.707) 29 FFPE GCCAG G/A AGGGG CMDL150441 FLD0259 FLD0283 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.689 0.934 421 652 pass pass 6003 15727 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150441 FLD0259 FLD0283 nonsynonymous,splice_region TP53 c.98C>T p.S33F tCc/tTc chr17 7579589 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579589", "IGV") low 0.139 48 LowQual,QD no call 26 TP53_25 ENSG00000141510 4 of 11 COSM22928, COSM1172527, COSM1172528, COSM1172529 tolerated(0.18) benign(0.099) 13 FFPE AGGGG G/A ACTGT CMDL150441 FLD0259 FLD0283 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") medium 0.775 0.857 230 70 pass pass 3759 1231 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150441 FLD0259 FLD0283 nonsynonymous TP53 c.1105C>A p.L369M Ctg/Atg chr17 7573004 G T =hyperlink("http://localhost:60151/goto?locus=chr17:7573004", "IGV") medium 0.221 1091 pass no call 2453 TP53_3 ENSG00000141510 11 of 11 tolerated(0.21) probably_damaging(0.928) 42 FFPE CTTCA G/T GTGGC CMDL150441 FLD0259 FLD0283 intron TP53 c.993+284C>T chr17 7576569 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576569", "IGV") medium 0.218 1029 no call pass 2507 TP53_6 ENSG00000141510 9 of 10 rs554738122 A:0.0002 38 FFPE CCATC G/A TAAGT CMDL150441 FLD0259 FLD0283 nonsynonymous TP53 c.973G>A p.G325R Gga/Aga chr17 7576873 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576873", "IGV") low 0.164 1633 QD no call 1076 TP53_8 ENSG00000141510 9 of 11 TP53_g.14045G>T, COSM307331, COSM390782 tolerated(0.4) benign(0.108) 42 FFPE TTCTC C/T ATCCA CMDL150441 FLD0259 FLD0283 nonsynonymous TP53 c.952C>T p.P318S Cca/Tca chr17 7576894 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576894", "IGV") medium 0.436 1245 no call pass 9544 TP53_9 ENSG00000141510 9 of 11 TP53_g.14024C>T, TP53_g.14024del, TP53_g.14024C>G, COSM43887 tolerated(0.3) benign(0.021) 8 FFPE CTTTG G/A CTGGG CMDL150442 FLD0260 FLD0284 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") high 0.996 0.988 1472 798 pass pass 41850 25094 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 FFPE GCATC T/C GGGAT CMDL150442 FLD0260 FLD0284 nonsynonymous ESR1 c.667G>A p.A223T Gcc/Acc chr6 152201813 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152201813", "IGV") low 0.191 1126 QD no call 1501 ESR1_11 ENSG00000091831 5 of 10 deleterious(0.01) probably_damaging(0.913) 23 FFPE GTCCA G/A CCACC CMDL150442 FLD0260 FLD0284 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.996 0.994 1126 797 pass pass 33334 22041 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 FFPE CTCCG T/C AAATG CMDL150442 FLD0260 FLD0284 nonsynonymous ESR1 c.821G>A p.G274E gGg/gAg chr6 152265368 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265368", "IGV") low 0.127 1967 QD no call 168 ESR1_13 ENSG00000091831 6 of 10 tolerated(0.87) benign(0.001) 28 FFPE TGATG G/A GGAGG CMDL150442 FLD0260 FLD0284 nonsynonymous ESR1 c.823G>A p.E275K Gag/Aag chr6 152265370 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152265370", "IGV") medium 0.217 1539 no call pass 3600 ESR1_13 ENSG00000091831 6 of 10 rs774979604 tolerated(0.46) benign(0.007) 30 FFPE ATGGG G/A AGGGC CMDL150442 FLD0260 FLD0284 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 1.000 0.997 1216 968 pass pass 35485 28013 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 FFPE CCCCC G/C ATACT CMDL150442 FLD0260 FLD0284 intron ESR1 c.1096+17C>T chr6 152265660 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152265660", "IGV") low 0.132 2354 no call QD 222 ESR1_15 ENSG00000091831 6 of 9 16 FFPE AAGCG C/T AGCTT CMDL150442 FLD0260 FLD0284 nonsynonymous,splice_region ESR1 c.1097G>A p.G366D gGc/gAc chr6 152332791 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152332791", "IGV") low 0.158 1746 no call QD 1020 ESR1_16 ENSG00000091831 7 of 10 deleterious(0.01) probably_damaging(0.998) 49 FFPE TTCAG G/A CTTTG CMDL150442 FLD0260 FLD0284 nonsynonymous ESR1 c.1102G>A p.V368M Gtg/Atg chr6 152332796 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152332796", "IGV") low 0.157 1746 no call QD 1223 ESR1_16 ENSG00000091831 7 of 10 rs146553338 deleterious(0.01) benign(0.05) 44 FFPE GCTTT G/A TGGAT CMDL150442 FLD0260 FLD0284 stop_gained ESR1 c.1240C>T p.Q414* Cag/Tag chr6 152382130 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152382130", "IGV") low 0.154 1286 QD no call 1023 ESR1_19 ENSG00000091831 8 of 10 50 FFPE GGAAC C/T AGGGA CMDL150442 FLD0260 FLD0284 synonymous ESR1 c.69G>A c.69G>A(p.%3D) ctG/ctA chr6 152129116 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129116", "IGV") medium 0.275 755 pass no call 2740 ESR1_2 ENSG00000091831 3 of 10 19 FFPE GAGCT G/A GAGCC CMDL150442 FLD0260 FLD0284 synonymous ESR1 c.1419C>T c.1419C>T(p.%3D) gaC/gaT chr6 152415569 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415569", "IGV") medium 0.336 1903 no call pass 10398 ESR1_21 ENSG00000091831 9 of 10 31 FFPE AAGGA C/T CATAT CMDL150442 FLD0260 FLD0284 synonymous ESR1 c.249G>A c.249G>A(p.%3D) ggG/ggA chr6 152129296 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152129296", "IGV") low 0.129 1824 QD no call 106 ESR1_4 ENSG00000091831 3 of 10 26 FFPE CCCGG G/A TCTGA CMDL150442 FLD0260 FLD0284 synonymous ESR1 c.261G>C c.261G>C(p.%3D) gcG/gcC chr6 152129308 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152129308", "IGV") high 0.999 0.998 1824 2012 pass pass 55866 57427 ESR1_4 18449864, 17268813, 19654868, 20616674, 23805288 ENSG00000091831 3 of 10 rs746432, COSM3761555 C:0.0387 38 FFPE GCTGC G/C GCGTT CMDL150442 FLD0260 FLD0284 synonymous ESR1 c.372C>T c.372C>T(p.%3D) caC/caT chr6 152129419 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129419", "IGV") low 0.148 641 QD no call 377 ESR1_5 ENSG00000091831 3 of 10 18 FFPE CCCCA C/T GGCCA CMDL150442 FLD0260 FLD0284 nonsynonymous,splice_region ESR1 c.455C>T p.P152L cCa/cTa chr6 152163734 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152163734", "IGV") medium 0.339 1857 no call pass 10070 ESR1_7 ENSG00000091831 4 of 10 deleterious(0.02) possibly_damaging(0.551) 53 FFPE CAGGC C/T AAATT CMDL150442 FLD0260 FLD0284 nonsynonymous ESR1 c.508G>A p.D170N Gac/Aac chr6 152163787 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152163787", "IGV") low 0.169 1974 QD no call 2164 ESR1_8 ENSG00000091831 4 of 10 tolerated(0.17) benign(0.207) 39 FFPE CCAAT G/A ACAAG CMDL150442 FLD0260 FLD0284 nonsynonymous PIK3CA c.50C>T p.P17L cCc/cTc chr3 178916663 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178916663", "IGV") medium 0.248 1409 pass no call 4427 PIK3CA_1 ENSG00000121879 2 of 21 COSM1566584, COSM1566583 deleterious(0.01) probably_damaging(0.989) 21 FFPE GATGC C/T CCCAA CMDL150442 FLD0260 FLD0284 nonsynonymous PIK3CA c.775G>A p.E259K Gaa/Aaa chr3 178919290 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178919290", "IGV") low 0.135 1540 no call QD 296 PIK3CA_12 ENSG00000121879 4 of 21 deleterious(0.03) possibly_damaging(0.883) 28 FFPE GTGAT G/A AATAC CMDL150442 FLD0260 FLD0284 stop_gained PIK3CA c.886C>T p.Q296* Caa/Taa chr3 178921404 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178921404", "IGV") medium 0.249 2174 no call pass 6333 PIK3CA_13 ENSG00000121879 5 of 21 COSM1537054, COSM1537053 22 FFPE ATTCT C/T AACTG CMDL150442 FLD0260 FLD0284 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") medium 0.915 0.947 836 37 pass pass 18495 829 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 FFPE TCTTG C/A ACTAT CMDL150442 FLD0260 FLD0284 intron PIK3CA c.1059+94T>C chr3 178921671 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178921671", "IGV") low 0.316 37 no call pass 158 PIK3CA_16 ENSG00000121879 5 of 20 18 FFPE GTATG T/C TTTCA CMDL150442 FLD0260 FLD0284 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.559 0.308 2251 1825 pass pass 25780 7945 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 FFPE TATAC C/A TACTT CMDL150442 FLD0260 FLD0284 nonsynonymous PIK3CA c.56G>A p.R19K aGa/aAa chr3 178916669 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916669", "IGV") medium 0.238 2412 no call pass 5393 PIK3CA_2 ENSG00000121879 2 of 21 COSM249774 tolerated(0.84) benign(0) 30 FFPE CCCAA G/A AATCC CMDL150442 FLD0260 FLD0284 nonsynonymous PIK3CA c.90G>A p.M30I atG/atA chr3 178916703 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916703", "IGV") low 0.118 2412 no call QD 4719 PIK3CA_2 ENSG00000121879 2 of 21 rs372968114 tolerated(1) benign(0) 47 FFPE GGAAT G/A ATAGT CMDL150442 FLD0260 FLD0284 nonsynonymous PIK3CA c.113G>A p.R38H cGt/cAt chr3 178916726 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178916726", "IGV") low 0.117 2412 no call QD 4719 PIK3CA_2 ENSG00000121879 2 of 21 rs772110575, COSM745, COSM729834, COSM1041449, COSM729833 deleterious(0.01) probably_damaging(0.999) 24 FFPE CCTCC G/A TGAGG CMDL150442 FLD0260 FLD0284 nonsynonymous PIK3CA c.1385C>T p.T462I aCt/aTt chr3 178928107 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178928107", "IGV") low 0.143 1181 QD no call 351 PIK3CA_23 ENSG00000121879 8 of 21 tolerated(0.14) benign(0.284) 14 FFPE TGTTA C/T TGGAT CMDL150442 FLD0260 FLD0284 intron PIK3CA c.1746+35G>A chr3 178937100 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178937100", "IGV") low 0.157 1360 no call QD 943 PIK3CA_30 ENSG00000121879 11 of 20 35 FFPE CTGTT G/A TACAA CMDL150442 FLD0260 FLD0284 intron PIK3CA c.1746+49G>A chr3 178937114 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178937114", "IGV") low 0.164 1200 QD no call 1213 PIK3CA_30 ENSG00000121879 11 of 20 21 FFPE GGTAT G/A TCACT CMDL150442 FLD0260 FLD0284 synonymous PIK3CA c.2104C>T c.2104C>T(p.%3D) Ctg/Ttg chr3 178938862 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178938862", "IGV") low 0.158 231 QD no call 276 PIK3CA_38 ENSG00000121879 14 of 21 18 FFPE AGCAC C/T TGAAT CMDL150442 FLD0260 FLD0284 intron PIK3CA c.2187+55G>A chr3 178939000 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178939000", "IGV") low 0.134 994 no call QD 81 PIK3CA_40 ENSG00000121879 14 of 20 45 FFPE GAGTT G/A TTTAG CMDL150442 FLD0260 FLD0284 intron PIK3CA c.2666+57G>A chr3 178947287 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947287", "IGV") low 0.164 2704 no call QD 1998 PIK3CA_48 ENSG00000121879 18 of 20 21 FFPE AGTCT G/A TCGGT CMDL150442 FLD0260 FLD0284 nonsynonymous PIK3CA c.2894G>A p.S965N aGt/aAt chr3 178948122 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948122", "IGV") low 0.208 2222 QD no call 4388 PIK3CA_53 ENSG00000121879 20 of 21 deleterious(0.04) benign(0.195) 27 FFPE GATTA G/A TAAAG CMDL150442 FLD0260 FLD0284 nonsynonymous PIK3CA c.2870C>T p.T957I aCa/aTa chr3 178948098 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178948098", "IGV") low 0.205 1677 no call QD 2462 PIK3CA_54 ENSG00000121879 20 of 21 deleterious(0.01) probably_damaging(0.998) 9 FFPE TTTGA C/T ACAGG CMDL150442 FLD0260 FLD0284 splice_donor PIK3CA c.2936+1G>A chr3 178948165 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178948165", "IGV") low 0.185 1737 QD no call 2239 PIK3CA_54 ENSG00000121879 20 of 20 37 FFPE GAGAG G/A TGAGC CMDL150442 FLD0260 FLD0284 nonsynonymous PIK3CA c.428T>C p.I143T aTt/aCt chr3 178917553 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178917553", "IGV") low 0.133 1680 QD no call 79 PIK3CA_7 ENSG00000121879 3 of 21 deleterious(0.01) possibly_damaging(0.717) 8 FFPE AAATA T/C TCTGA CMDL150442 FLD0260 FLD0284 synonymous TP53 c.882G>A c.882G>A(p.%3D) gaG/gaA chr17 7577056 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577056", "IGV") low 0.147 2042 no call QD 853 TP53_11 ENSG00000141510 8 of 11 TP53_g.13862G>T, TP53_g.13862G>A, COSM45534, COSM44412 39 FFPE TGAGG C/T TCCCC CMDL150442 FLD0260 FLD0284 nonsynonymous TP53 c.853G>A p.E285K Gag/Aag chr17 7577085 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7577085", "IGV") medium 0.220 2042 no call pass 4324 TP53_11 ENSG00000141510 8 of 11 CM995136, rs112431538, TP53_g.13833G>A, TP53_g.13833del, TP53_g.13833G>C, TP53_g.13833G>T, COSM44388, COSM10722, COSM45138, COSM45600, COSM137087, COSM254990, COSM3717625, COSM3932742, COSM1649345, COSM1649344 deleterious(0) probably_damaging(0.985) 43 FFPE TTCCT C/T TGTGC CMDL150442 FLD0260 FLD0284 synonymous TP53 c.790C>T c.790C>T(p.%3D) Cta/Tta chr17 7577148 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577148", "IGV") medium 0.847 865 no call pass 17160 TP53_12 ENSG00000141510 8 of 11 TP53_g.13770C>G, TP53_g.13770del, TP53_g.13770C>A, TP53_g.13770C>T, COSM43959, COSM45189, COSM44951, COSM45704 49 FFPE CAGTA G/A ATTAC CMDL150442 FLD0260 FLD0284 intron TP53 c.783-28C>T chr17 7577183 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577183", "IGV") medium 0.844 865 no call pass 17074 TP53_12 ENSG00000141510 7 of 10 14 FFPE AGCAA G/A AGGCA CMDL150442 FLD0260 FLD0284 synonymous TP53 c.612G>A c.612G>A(p.%3D) gaG/gaA chr17 7578237 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578237", "IGV") low 0.178 707 no call QD 963 TP53_15 ENSG00000141510 6 of 11 rs749629973, TP53_g.12681G>T, TP53_g.12681G>C, TP53_g.12681G>A, COSM46471, COSM43761, COSM984938, COSM984942, COSM984941 likely_benign 8 FFPE AAATA C/T TCCAC CMDL150442 FLD0260 FLD0284 nonsynonymous TP53 c.622G>A p.D208N Gac/Aac chr17 7578227 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578227", "IGV") low 0.163 1799 QD no call 1581 TP53_16 ENSG00000141510 6 of 11 TP53_g.12691G>C, TP53_g.12691G>T, TP53_g.12691G>A, COSM44716, COSM43987, COSM45734 deleterious(0.03) probably_damaging(1) 47 FFPE TCTGT C/T ATCCA CMDL150442 FLD0260 FLD0284 synonymous TP53 c.609G>A c.609G>A(p.%3D) gtG/gtA chr17 7578240 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578240", "IGV") low 0.202 1488 no call QD 2405 TP53_16 ENSG00000141510 6 of 11 TP53_g.12678G>C, TP53_g.12678G>T, TP53_g.12678G>A, COSM44707, COSM46319, COSM1386711, COSM1386712, COSM1386714, COSM4139868, COSM2744764, COSM1386713 60 FFPE TACTC C/T ACACG CMDL150442 FLD0260 FLD0284 nonsynonymous TP53 c.554G>A p.S185N aGc/aAc chr17 7578376 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578376", "IGV") medium 0.723 1366 pass no call 22503 TP53_18 ENSG00000141510 5 of 11 rs150607408, TP53_g.12542del, TP53_g.12542G>A, TP53_g.12542G>T, COSM46036, COSM46034, COSM45698 tolerated(0.56) benign(0.004) uncertain_significance 53 FFPE CATCG C/T TATCT CMDL150442 FLD0260 FLD0284 synonymous TP53 c.459C>T c.459C>T(p.%3D) ccC/ccT chr17 7578471 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578471", "IGV") medium 0.412 1467 pass no call 10627 TP53_19 ENSG00000141510 5 of 11 rs72661116, TP53_g.12447C>T, TP53_g.12447C>A, COSM404850, COSM43964, COSM44416, COSM404851, COSM1386817, COSM1386818, COSM404852, COSM1386820, COSM404854, COSM404853, COSM1386819 A:0.0002 14 FFPE GTGCC G/A GGCGG CMDL150442 FLD0260 FLD0284 nonsynonymous TP53 c.469G>A p.V157I Gtc/Atc chr17 7578461 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578461", "IGV") low 0.131 951 no call QD 106 TP53_20 ENSG00000141510 5 of 11 rs121912654, TP53_g.12457del, TP53_g.12457G>A, TP53_g.12457G>C, TP53_g.12457G>T, COSM10670, COSM43625, COSM45120, COSM131480, COSM131481, COSM131483, COSM3388217, COSM1679513, COSM131482 tolerated(0.25) benign(0.362) uncertain_significance,pathogenic 27 FFPE GCGGA C/T GCGGG CMDL150442 FLD0260 FLD0284 nonsynonymous TP53 c.302A>G p.K101R aAa/aGa chr17 7579385 T C =hyperlink("http://localhost:60151/goto?locus=chr17:7579385", "IGV") low 0.241 493 QD no call 884 TP53_22 ENSG00000141510 4 of 11 TP53_g.11533A>G, COSM44986 tolerated(0.07) possibly_damaging(0.551) 11 FFPE AGGTT T/C TCTGG CMDL150442 FLD0260 FLD0284 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.998 0.365 604 351 pass pass 17097 2056 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 FFPE CCACG G/C GGGGA CMDL150442 FLD0260 FLD0284 intron TP53 c.97-43C>T chr17 7579633 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579633", "IGV") medium 0.866 261 pass no call 4870 TP53_25 ENSG00000141510 3 of 10 57 FFPE CCTCA G/A CCCCC CMDL150442 FLD0260 FLD0284 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") medium 0.950 1.000 233 2 pass LowQual 5250 22 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 FFPE GGGGT G/C GGGGT CMDL150442 FLD0260 FLD0284 intron TP53 c.-28-9C>T chr17 7579949 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7579949", "IGV") medium 0.515 1697 pass no call 16745 TP53_28 ENSG00000141510 1 of 10 16 FFPE CAAGA G/A GAAAA CMDL150442 FLD0260 FLD0284 intron TP53 c.1101-49C>T chr17 7573057 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7573057", "IGV") high 0.724 0.725 559 1091 pass pass 9052 18090 TP53_3 ENSG00000141510 10 of 10 rs17881850 A:0.0076 26 FFPE TGAGA G/A GGTCT CMDL150442 FLD0260 FLD0284 intron TP53 c.993+342G>A chr17 7576511 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576511", "IGV") medium 0.326 1205 no call pass 5997 TP53_6 ENSG00000141510 9 of 10 15 FFPE AAATC C/T ATTTT CMDL150442 FLD0260 FLD0284 intron TP53 c.993+10C>T chr17 7576843 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7576843", "IGV") medium 0.252 1694 no call pass 4725 TP53_8 ENSG00000141510 9 of 10 12 FFPE CCCAA G/A ACTTA CMDL150442 FLD0260 FLD0284 synonymous TP53 c.945T>C c.945T>C(p.%3D) tcT/tcC chr17 7576901 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7576901", "IGV") low 0.150 1465 QD no call 1126 TP53_8 ENSG00000141510 9 of 11 TP53_g.14017T>G, COSM46475 45 FFPE TGGGG A/G GAGGA CMDL150442 FLD0260 FLD0284 synonymous TP53 c.924G>A c.924G>A(p.%3D) ctG/ctA chr17 7576922 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7576922", "IGV") medium 0.378 1465 pass no call 9569 TP53_8 ENSG00000141510 9 of 11 TP53_g.13996G>A, TP53_g.13996G>C, TP53_g.13996G>T, COSM45097, COSM45099 24 FFPE TTGGG C/T AGTGC STD1_019 FLD0261 FLD0285 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.998 0.999 2137 1800 pass pass 64219 51939 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 Control CTCCG T/C AAATG STD1_019 FLD0261 FLD0285 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.655 0.662 1273 1232 pass pass 17621 18050 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 Control CCCCC G/C ATACT STD1_019 FLD0261 FLD0285 synonymous ESR1 c.414C>T c.414C>T(p.%3D) ggC/ggT chr6 152129461 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129461", "IGV") low 0.500 4 pass no call 50 ESR1_6 ENSG00000091831 3 of 10 11 Control AGCGG C/T TACAC STD1_019 FLD0261 FLD0285 synonymous ESR1 c.435C>T c.435C>T(p.%3D) ggC/ggT chr6 152129482 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152129482", "IGV") low 0.500 4 pass no call 50 ESR1_6 ENSG00000091831 3 of 10 3 Control GCCGG C/T CCGCC STD1_019 FLD0261 FLD0285 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") high 0.816 0.784 2329 2177 pass pass 46838 40191 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 Control TCTTG C/A ACTAT STD1_019 FLD0261 FLD0285 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.837 0.791 2116 1845 pass pass 41543 34039 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 Control TATAC C/A TACTT STD1_019 FLD0261 FLD0285 nonsynonymous PIK3CA c.2740G>A p.G914R Gga/Aga chr3 178947865 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947865", "IGV") medium 0.148 0.248 2216 1894 QD pass 457 4820 PIK3CA_50 ENSG00000121879 19 of 21 COSM3846792, COSM3846791 deleterious(0) possibly_damaging(0.641) 40 Control GAATT G/A GAGAT STD1_019 FLD0261 FLD0285 nonsynonymous PIK3CA c.3140A>G p.H1047R cAt/cGt chr3 178952085 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178952085", "IGV") high 0.272 0.234 2506 2596 pass pass 8814 6212 PIK3CA_57 25710561 ENSG00000121879 21 of 21 rs121913279, COSM776, COSM775, COSM249874, COSM94987, COSM94986 tolerated(0.11) possibly_damaging(0.529) pathogenic 23 Control TGCAC A/G TCATG STD1_019 FLD0261 FLD0285 intron TP53 c.782+72C>T chr17 7577427 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577427", "IGV") medium 0.198 0.298 2779 2625 QD pass 3019 7800 TP53_13 20436704, 19224585, 23161286, 20377871, 17449902, 19423538, 20110284, 23435014, 22962577, 21514219 ENSG00000141510 7 of 10 rs12947788 A:0.1783 21 Control GGTGG G/A CCCAG STD1_019 FLD0261 FLD0285 splice_acceptor TP53 c.1101-2A>C chr17 7573010 T G =hyperlink("http://localhost:60151/goto?locus=chr17:7573010", "IGV") low 0.182 2081 no call QD 2174 TP53_2 ENSG00000141510 10 of 10 rs587781664, CS111031, TP53_g.17908A>G, TP53_g.17908A>T, TP53_g.17908A>C, COSM1191161, COSM12663, COSM45409, COSM1386548, COSM1679487 1 Control GTGGC T/G GTAGG STD1_019 FLD0261 FLD0285 splice_region,intron TP53 c.376-7C>T chr17 7578561 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578561", "IGV") medium 0.265 0.184 2328 2038 pass QD 8681 2955 TP53_21 ENSG00000141510 4 of 10 26 Control TGTAG G/A AAGAG STD1_019 FLD0261 FLD0285 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.985 0.955 1508 1398 pass pass 42187 37023 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 Control CCACG G/C GGGGA STD1_019 FLD0261 FLD0285 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 0.960 0.902 1158 1059 pass pass 34346 24613 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 Control GGGGT G/C GGGGT STD5_019 FLD0262 FLD0286 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") medium 0.247 1415 pass no call 4100 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 Control GCATC T/C GGGAT STD5_019 FLD0262 FLD0286 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.997 0.999 1843 1718 pass pass 53768 50975 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 Control CTCCG T/C AAATG STD5_019 FLD0262 FLD0286 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.710 0.680 975 1045 pass pass 16407 15582 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 Control CCCCC G/C ATACT STD5_019 FLD0262 FLD0286 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") high 0.678 0.605 2095 2065 pass pass 31724 26664 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 Control TCTTG C/A ACTAT STD5_019 FLD0262 FLD0286 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.731 0.760 1898 1914 pass pass 31765 32364 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 Control TATAC C/A TACTT STD5_019 FLD0262 FLD0286 nonsynonymous PIK3CA c.2155C>G p.L719V Ctc/Gtc chr3 178938913 C G =hyperlink("http://localhost:60151/goto?locus=chr3:178938913", "IGV") low 0.190 2118 MQRankSum,QD no call 3105 PIK3CA_39 ENSG00000121879 14 of 21 tolerated(0.24) benign(0.308) 33 Control ACATT C/G TCAAA STD5_019 FLD0262 FLD0286 nonsynonymous PIK3CA c.2740G>A p.G914R Gga/Aga chr3 178947865 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947865", "IGV") high 0.233 0.231 1796 1750 pass pass 4075 4212 PIK3CA_50 ENSG00000121879 19 of 21 COSM3846792, COSM3846791 deleterious(0) possibly_damaging(0.641) 40 Control GAATT G/A GAGAT STD5_019 FLD0262 FLD0286 nonsynonymous PIK3CA c.3140A>G p.H1047R cAt/cGt chr3 178952085 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178952085", "IGV") high 0.401 0.309 2392 2200 pass pass 15826 10670 PIK3CA_57 25710561 ENSG00000121879 21 of 21 rs121913279, COSM776, COSM775, COSM249874, COSM94987, COSM94986 tolerated(0.11) possibly_damaging(0.529) pathogenic 23 Control TGCAC A/G TCATG STD5_019 FLD0262 FLD0286 intron TP53 c.782+72C>T chr17 7577427 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577427", "IGV") medium 0.225 0.266 2544 2459 QD pass 4129 5981 TP53_13 20436704, 19224585, 23161286, 20377871, 17449902, 19423538, 20110284, 23435014, 22962577, 21514219 ENSG00000141510 7 of 10 rs12947788 A:0.1783 21 Control GGTGG G/A CCCAG STD5_019 FLD0262 FLD0286 splice_acceptor TP53 c.1101-2A>C chr17 7573010 T G =hyperlink("http://localhost:60151/goto?locus=chr17:7573010", "IGV") low 0.203 1809 no call QD 2970 TP53_2 ENSG00000141510 10 of 10 rs587781664, CS111031, TP53_g.17908A>G, TP53_g.17908A>T, TP53_g.17908A>C, COSM1191161, COSM12663, COSM45409, COSM1386548, COSM1679487 1 Control GTGGC T/G GTAGG STD5_019 FLD0262 FLD0286 splice_region,intron TP53 c.376-7C>T chr17 7578561 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578561", "IGV") high 0.329 0.218 1891 1787 pass pass 10048 3924 TP53_21 ENSG00000141510 4 of 10 26 Control TGTAG G/A AAGAG STD5_019 FLD0262 FLD0286 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.956 0.985 1116 1204 pass pass 29488 33299 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 Control CCACG G/C GGGGA STD5_019 FLD0262 FLD0286 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 0.979 0.982 953 802 pass pass 26987 23400 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 Control GGGGT G/C GGGGT STD7_019 FLD0263 FLD0287 synonymous ESR1 c.30T>C c.30T>C(p.%3D) tcT/tcC chr6 152129077 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152129077", "IGV") medium 0.857 1306 no call pass 31907 ESR1_1 18628428, 19194457, 18980759, 15113403, 15157284, 19952760, 22580635, 18449864, 25323936, 18445666, 18305958, 19654868, 20304699, 15268889, 19884274, 22549291, 19760036, 16280269, 20383761, 24395301, 25200861, 16144952, 16935316, 17372038, 18385916, 18408366, 21837769, 22328322, 20729390, 23382403, 20616674, 16199553, 20615892, 21992066, 23805288, 21092186, 24218030, 23917948, 21760950, 25499601, 23731620, 22727021, 25469118, 16762623, 16213680, 18164902 ENSG00000091831 3 of 10 rs2077647, COSM3761554 C:0.4665 22 Control GCATC T/C GGGAT STD7_019 FLD0263 FLD0287 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") high 0.999 0.999 1913 1522 pass pass 54059 45441 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 Control CTCCG T/C AAATG STD7_019 FLD0263 FLD0287 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") high 0.703 0.760 1149 1026 pass pass 19260 18434 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 Control CCCCC G/C ATACT STD7_019 FLD0263 FLD0287 nonsynonymous ESR1 c.80A>G p.N27S aAc/aGc chr6 152129127 A G =hyperlink("http://localhost:60151/goto?locus=chr6:152129127", "IGV") low 0.181 327 QD no call 460 ESR1_2 ENSG00000091831 3 of 10 tolerated(0.58) benign(0.002) 30 Control CCTGA A/G CCGTC STD7_019 FLD0263 FLD0287 intron PIK3CA c.1059+62C>A chr3 178921639 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178921639", "IGV") high 0.715 0.657 2280 1946 pass pass 37987 27512 PIK3CA_16 ENSG00000121879 5 of 20 rs2699895 C:0.4820 50 Control TCTTG C/A ACTAT STD7_019 FLD0263 FLD0287 intron PIK3CA c.1060-17C>A chr3 178922274 C A =hyperlink("http://localhost:60151/goto?locus=chr3:178922274", "IGV") high 0.783 0.859 2011 1820 pass pass 36444 38891 PIK3CA_17 ENSG00000121879 5 of 20 rs2699896 C:0.4153 18 Control TATAC C/A TACTT STD7_019 FLD0263 FLD0287 nonsynonymous PIK3CA c.2155C>G p.L719V Ctc/Gtc chr3 178938913 C G =hyperlink("http://localhost:60151/goto?locus=chr3:178938913", "IGV") low 0.137 0.150 2480 2002 MQRankSum,QD MQRankSum,QD 239 727 PIK3CA_39 ENSG00000121879 14 of 21 tolerated(0.24) benign(0.308) 33 Control ACATT C/G TCAAA STD7_019 FLD0263 FLD0287 nonsynonymous PIK3CA c.2740G>A p.G914R Gga/Aga chr3 178947865 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947865", "IGV") medium 0.168 0.230 1946 1643 QD pass 1865 4314 PIK3CA_50 ENSG00000121879 19 of 21 COSM3846792, COSM3846791 deleterious(0) possibly_damaging(0.641) 40 Control GAATT G/A GAGAT STD7_019 FLD0263 FLD0287 nonsynonymous PIK3CA c.3140A>G p.H1047R cAt/cGt chr3 178952085 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178952085", "IGV") high 0.343 0.257 2467 2080 pass pass 13355 6917 PIK3CA_57 25710561 ENSG00000121879 21 of 21 rs121913279, COSM776, COSM775, COSM249874, COSM94987, COSM94986 tolerated(0.11) possibly_damaging(0.529) pathogenic 23 Control TGCAC A/G TCATG STD7_019 FLD0263 FLD0287 intron TP53 c.782+72C>T chr17 7577427 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7577427", "IGV") medium 0.306 0.206 2749 2361 pass QD 9039 3027 TP53_13 20436704, 19224585, 23161286, 20377871, 17449902, 19423538, 20110284, 23435014, 22962577, 21514219 ENSG00000141510 7 of 10 rs12947788 A:0.1783 21 Control GGTGG G/A CCCAG STD7_019 FLD0263 FLD0287 splice_region,intron TP53 c.376-7C>T chr17 7578561 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578561", "IGV") low 0.196 2198 QD no call 3615 TP53_21 ENSG00000141510 4 of 10 26 Control TGTAG G/A AAGAG STD7_019 FLD0263 FLD0287 nonsynonymous TP53 c.215C>G p.P72R cCc/cGc chr17 7579472 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579472", "IGV") high 0.944 0.987 1343 1054 pass pass 34117 29838 TP53_23 18805939, 24944790, 18547414, 22076708, 18191955, 18854777, 24084248, 20436704, 18715757, 18820009, 19911060, 24728327, 18678618, 21283750, 19237173, 20587610, 16465622, 19750108, 23311506, 21790896, 19224585, 20455025, 24586820, 24944814, 18990748, 19822020, 16857995, 23906684, 15564288, 19367277, 20232390, 18978339, 18298806, 20452958, 17428325, 20003265, 25412941, 24654968, 24820515, 19286843, 24818791, 19482343, 18798306, 21437228, 19470478, 22773013, 23837945, 23034890, 15450681, 16287156, 17096406, 17301252, 17449902, 17537232, 17624591, 18433491, 18640487, 19193430, 19276375, 19423538, 19426493, 19471604, 19505915, 19521721, 19542078, 19625214, 19657586, 19707196, 19784392, 19834951, 19837266, 20110284, 20127253, 20357201, 20512840, 20593380, 20935061, 21029772, 21115003, 21146886, 21252575, 21708280, 21741128, 21810023, 21838531, 21841506, 21897271, 22178231, 22189267, 22251423, 22294769, 22336942, 22417303, 22892830, 23124483, 23125046, 23192612, 23207172, 23210739, 23360829, 23423487, 23632240, 23653000, 23729685, 23744327, 24115240, 24266512, 24369748, 24370206, 24435975, 24534481, 24632578, 24710610, 2486394 ENSG00000141510 4 of 11 rs1042522, CM961374, TP53_g.11446del, COSM250061, COSM45985, COSM3766190, COSM3766193, COSM3766192, COSM3766191 tolerated(0.57) benign(0.143) uncertain_significance,benign G:0.4571 30 Control CCACG G/C GGGGA STD7_019 FLD0263 FLD0287 intron TP53 c.74+38C>G chr17 7579801 G C =hyperlink("http://localhost:60151/goto?locus=chr17:7579801", "IGV") high 0.871 0.964 1054 789 pass pass 23224 20707 TP53_27 18798306, 21437228, 17096406, 19276375, 19423538, 21115003, 25269805, 24336192, 24936644, 21402718, 23570263, 22962577, 22829934, 18248785, 17133269 ENSG00000141510 2 of 10 rs1642785 benign G:0.4151 48 Control GGGGT G/C GGGGT NTC_019 FLD0264 FLD0288 synonymous ESR1 c.729T>C c.729T>C(p.%3D) cgT/cgC chr6 152201875 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152201875", "IGV") low 1.000 2 no call LowQual 22 ESR1_11 19319135, 15217512, 18271972, 18990228, 23593326 ENSG00000091831 5 of 10 rs4986934 T:0.0144 34 Blank CTCCG T/C AAATG NTC_019 FLD0264 FLD0288 synonymous ESR1 c.798A>G c.798A>G(p.%3D) aaA/aaG chr6 152265345 A G =hyperlink("http://localhost:60151/goto?locus=chr6:152265345", "IGV") low 1.000 2 no call LowQual 22 ESR1_13 ENSG00000091831 6 of 10 5 Blank TTGAA A/G CACAA NTC_019 FLD0264 FLD0288 synonymous ESR1 c.975G>C c.975G>C(p.%3D) ccG/ccC chr6 152265522 G C =hyperlink("http://localhost:60151/goto?locus=chr6:152265522", "IGV") low 0.600 0.875 10 16 pass pass 90 313 ESR1_14 18787887, 19693267, 19194457, 25315199, 18980759, 21429951, 15113403, 15157284, 19941161, 18053221, 18445666, 18450649, 19319135, 18511131, 18680103, 18350145, 19218192, 17268813, 19654868, 20304699, 15268889, 16292600, 23567436, 19884274, 18678289, 21528353, 17609999, 19673915, 19760036, 16280269, 20172949, 22324545, 18062975, 15217512, 16504171, 17116097, 18271972, 18636479, 18990228, 19175383, 19375130, 20046055, 20109228, 20383761, 22011627, 24395301, 25200861, 25228414, 23577061, 20616674, 22222969, 16199553, 23574728, 17599809, 25116933, 22808109, 23805288, 21514219, 24218030, 23917948, 21760950, 23593326, 16762623, 16213680, 18164902, 16005459 ENSG00000091831 6 of 10 rs1801132, CM016108, COSM4003740, COSM4003741 G:0.2823 50 Blank CCCCC G/C ATACT NTC_019 FLD0264 FLD0288 nonsynonymous ESR1 c.1432G>A p.V478I Gtc/Atc chr6 152415582 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415582", "IGV") low 0.200 10 no call pass 32 ESR1_22 ENSG00000091831 9 of 10 tolerated(0.3) benign(0.004) 6 Blank ACCGA G/A TCCTG NTC_019 FLD0264 FLD0288 nonsynonymous ESR1 c.1438G>A p.D480N Gac/Aac chr6 152415588 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152415588", "IGV") low 0.200 10 no call pass 32 ESR1_22 ENSG00000091831 9 of 10 tolerated(0.32) possibly_damaging(0.813) 12 Blank TCCTG G/A ACAAG NTC_019 FLD0264 FLD0288 nonsynonymous ESR1 c.1520T>C p.L507P cTc/cCc chr6 152415670 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152415670", "IGV") low 0.200 10 no call pass 32 ESR1_22 ENSG00000091831 9 of 10 deleterious(0) probably_damaging(0.999) 26 Blank CCAGC T/C CCTCC NTC_019 FLD0264 FLD0288 nonsynonymous ESR1 c.1522C>T p.L508F Ctc/Ttc chr6 152415672 C T =hyperlink("http://localhost:60151/goto?locus=chr6:152415672", "IGV") low 0.200 10 no call pass 32 ESR1_22 ENSG00000091831 9 of 10 deleterious(0) probably_damaging(0.999) 24 Blank AGCTC C/T TCCTC NTC_019 FLD0264 FLD0288 nonsynonymous ESR1 c.1532T>A p.L511H cTc/cAc chr6 152415682 T A =hyperlink("http://localhost:60151/goto?locus=chr6:152415682", "IGV") low 0.200 10 no call pass 32 ESR1_22 ENSG00000091831 9 of 10 deleterious(0) probably_damaging(1) 14 Blank CATCC T/A CTCCC NTC_019 FLD0264 FLD0288 intron ESR1 c.1553+45A>G chr6 152415748 A G =hyperlink("http://localhost:60151/goto?locus=chr6:152415748", "IGV") low 1.000 2 no call LowQual 22 ESR1_23 ENSG00000091831 9 of 9 rs773290817 53 Blank AAAAC A/G TGCCC NTC_019 FLD0264 FLD0288 intron ESR1 c.1553+64A>G chr6 152415767 A G =hyperlink("http://localhost:60151/goto?locus=chr6:152415767", "IGV") low 1.000 2 no call LowQual 22 ESR1_23 ENSG00000091831 9 of 9 47 Blank ATGTG A/G CAGCT NTC_019 FLD0264 FLD0288 intron ESR1 c.1554-17T>C chr6 152419850 T C =hyperlink("http://localhost:60151/goto?locus=chr6:152419850", "IGV") low 1.000 2 LowQual no call 22 ESR1_24 ENSG00000091831 9 of 9 rs763900064 46 Blank TTCTG T/C GTCTT NTC_019 FLD0264 FLD0288 synonymous ESR1 c.1695A>G c.1695A>G(p.%3D) caA/caG chr6 152420008 A G =hyperlink("http://localhost:60151/goto?locus=chr6:152420008", "IGV") low 1.000 2 no call LowQual 22 ESR1_25 ENSG00000091831 10 of 10 20 Blank GACCA A/G AGCCA NTC_019 FLD0264 FLD0288 synonymous ESR1 c.1782G>A c.1782G>A(p.%3D) acG/acA chr6 152420095 G A =hyperlink("http://localhost:60151/goto?locus=chr6:152420095", "IGV") low 1.000 2 LowQual no call 22 ESR1_26 20734064, 19693267, 18980759, 21429951, 15113403, 15157284, 19941161, 19094228, 19319135, 20375995, 19654868, 20304699, 24587880, 15268889, 17609999, 19760036, 18627768, 20172949, 24721264, 16504171, 18636479, 19175383, 20046055, 20383761, 24395301, 18385916, 19636371, 18424448, 19519176, 19860576, 19926619, 20128071, 20729390, 16199553, 23574728, 22224819, 25116933, 23805288, 24403849, 21092186, 24052609, 17498544, 16213680, 19036616, 18164902, 17509487 ENSG00000091831 10 of 10 rs2228480, CM056948, COSM3761556 A:0.1887 36 Blank GCCAC G/A GTCTG NTC_019 FLD0264 FLD0288 nonsynonymous PIK3CA c.679A>G p.K227E Aaa/Gaa chr3 178919194 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178919194", "IGV") low 1.000 2 no call LowQual 22 PIK3CA_11 ENSG00000121879 4 of 21 deleterious(0.01) possibly_damaging(0.844) 28 Blank TCAGG A/G AAAAA NTC_019 FLD0264 FLD0288 splice_region,intron PIK3CA c.1405-4T>C chr3 178928215 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178928215", "IGV") low 1.000 2 no call LowQual 22 PIK3CA_24 ENSG00000121879 8 of 20 35 Blank ATCTC T/C TAGGA NTC_019 FLD0264 FLD0288 synonymous PIK3CA c.1566A>G c.1566A>G(p.%3D) gaA/gaG chr3 178936024 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178936024", "IGV") low 1.000 2 MQ no call 63 PIK3CA_25 ENSG00000121879 10 of 21 COSM1420849, COSM1420848 5 Blank AATGA A/G TTAAG NTC_019 FLD0264 FLD0288 synonymous PIK3CA c.1605T>C c.1605T>C(p.%3D) tcT/tcC chr3 178936063 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178936063", "IGV") low 1.000 2 no call LowQual,MQ 22 PIK3CA_25 ENSG00000121879 10 of 21 36 Blank ATTTC T/C ACACG NTC_019 FLD0264 FLD0288 intron PIK3CA c.1747-49C>T chr3 178937310 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178937310", "IGV") low 1.000 2 no call LowQual 22 PIK3CA_31 ENSG00000121879 11 of 20 9 Blank ATTCA C/T AACTA NTC_019 FLD0264 FLD0288 nonsynonymous PIK3CA c.1780A>G p.K594E Aaa/Gaa chr3 178937392 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178937392", "IGV") low 0.500 2 no call LowQual,MQ 22 PIK3CA_32 ENSG00000121879 12 of 21 COSM87304, COSM1220597 tolerated(0.7) benign(0.002) 15 Blank CAATC A/G AACCT NTC_019 FLD0264 FLD0288 intron PIK3CA c.2187+85G>A chr3 178939030 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178939030", "IGV") low 1.000 2 no call LowQual,MQ 22 PIK3CA_40 ENSG00000121879 14 of 20 15 Blank ATCAT G/A GTCCT NTC_019 FLD0264 FLD0288 nonsynonymous,splice_region PIK3CA c.2188G>A p.V730I Gta/Ata chr3 178941869 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178941869", "IGV") low 1.000 2 no call LowQual 22 PIK3CA_41 ENSG00000121879 15 of 21 tolerated(0.45) benign(0.005) 48 Blank ATCAG G/A TACAG NTC_019 FLD0264 FLD0288 synonymous PIK3CA c.2274T>G c.2274T>G(p.%3D) gcT/gcG chr3 178941955 T G =hyperlink("http://localhost:60151/goto?locus=chr3:178941955", "IGV") low 0.125 16 LowQual,QD no call 14 PIK3CA_42 ENSG00000121879 15 of 21 rs757160501 44 Blank CCTGC T/G CATCA NTC_019 FLD0264 FLD0288 stop_gained PIK3CA c.2278C>T p.Q760* Caa/Taa chr3 178941959 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178941959", "IGV") low 0.125 16 LowQual,QD no call 14 PIK3CA_42 ENSG00000121879 15 of 21 48 Blank CTCAT C/T AACTA NTC_019 FLD0264 FLD0288 synonymous PIK3CA c.2547G>A c.2547G>A(p.%3D) gaG/gaA chr3 178947111 G A =hyperlink("http://localhost:60151/goto?locus=chr3:178947111", "IGV") low 1.000 2 no call LowQual 22 PIK3CA_46 ENSG00000121879 18 of 21 1 Blank ATTGA G/A GTGGT NTC_019 FLD0264 FLD0288 intron PIK3CA c.2666+27T>C chr3 178947257 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178947257", "IGV") low 1.000 2 no call LowQual 22 PIK3CA_48 ENSG00000121879 18 of 20 rs202098684 51 Blank TCCTA T/C GTTAA NTC_019 FLD0264 FLD0288 intron PIK3CA c.352+40A>G chr3 178917005 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178917005", "IGV") low 1.000 2 LowQual no call 22 PIK3CA_5 ENSG00000121879 2 of 20 rs3729674 G:0.2734 3 Blank ACCAT A/G AAGCT NTC_019 FLD0264 FLD0288 intron PIK3CA c.2785-31A>T chr3 178947982 A T =hyperlink("http://localhost:60151/goto?locus=chr3:178947982", "IGV") low 1.000 2 LowQual no call 22 PIK3CA_51 ENSG00000121879 19 of 20 32 Blank ATATC A/T AACTA NTC_019 FLD0264 FLD0288 splice_region,intron PIK3CA c.2785-4A>G chr3 178948009 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178948009", "IGV") low 1.000 2 no call LowQual 22 PIK3CA_52 ENSG00000121879 19 of 20 46 Blank TTTTG A/G AAGCT NTC_019 FLD0264 FLD0288 nonsynonymous PIK3CA c.3151T>C p.W1051R Tgg/Cgg chr3 178952096 T C =hyperlink("http://localhost:60151/goto?locus=chr3:178952096", "IGV") low 1.000 2 LowQual no call 22 PIK3CA_57 ENSG00000121879 21 of 21 COSM1421017, COSM1421016 deleterious(0) probably_damaging(0.985) 34 Blank GTGGC T/C GGACA NTC_019 FLD0264 FLD0288 3_prime_UTR PIK3CA c.*15A>G chr3 178952167 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178952167", "IGV") low 1.000 2 LowQual no call 22 PIK3CA_57 ENSG00000121879 21 of 21 14 Blank TGAGA A/G AATGA NTC_019 FLD0264 FLD0288 nonsynonymous PIK3CA c.415T>A p.F139I Ttc/Atc chr3 178917540 T A =hyperlink("http://localhost:60151/goto?locus=chr3:178917540", "IGV") low 1.000 2 LowQual no call 22 PIK3CA_8 ENSG00000121879 3 of 21 deleterious(0) probably_damaging(0.992) 3 Blank AGGAC T/A TCCGA NTC_019 FLD0264 FLD0288 synonymous PIK3CA c.516A>G c.516A>G(p.%3D) gaA/gaG chr3 178917641 A G =hyperlink("http://localhost:60151/goto?locus=chr3:178917641", "IGV") low 1.000 2 LowQual no call 22 PIK3CA_8 ENSG00000121879 3 of 21 9 Blank GTAGA A/G TCTTC NTC_019 FLD0264 FLD0288 nonsynonymous PIK3CA c.521C>T p.S174L tCa/tTa chr3 178917646 C T =hyperlink("http://localhost:60151/goto?locus=chr3:178917646", "IGV") low 1.000 2 no call LowQual 22 PIK3CA_8 ENSG00000121879 3 of 21 deleterious(0.01) benign(0.285) 4 Blank ATCTT C/T ACCAG NTC_019 FLD0264 FLD0288 intron TP53 c.672+16G>A chr17 7578161 C T =hyperlink("http://localhost:60151/goto?locus=chr17:7578161", "IGV") low 1.000 2 no call LowQual 22 TP53_15 ENSG00000141510 6 of 10 21 Blank GACCC C/T AGTTG NTC_019 FLD0264 FLD0288 synonymous TP53 c.567C>T c.567C>T(p.%3D) gcC/gcT chr17 7578282 G A =hyperlink("http://localhost:60151/goto?locus=chr17:7578282", "IGV") low 1.000 2 LowQual no call 22 TP53_16 ENSG00000141510 6 of 11 rs55764374, TP53_g.12636C>T, COSM45440, COSM1564179, COSM1564180, COSM1564181, COSM1564183, COSM1564182 21 Blank GGAGG G/A GCCAG NTC_019 FLD0264 FLD0288 nonsynonymous,splice_region TP53 c.562C>A p.L188M Ctg/Atg chr17 7578287 G T =hyperlink("http://localhost:60151/goto?locus=chr17:7578287", "IGV") low 1.000 2 LowQual no call 22 TP53_17 ENSG00000141510 6 of 11 TP53_g.12631C>G, TP53_g.12631C>T, TP53_g.12631del, COSM3727816, COSM44602 deleterious(0.02) probably_damaging(0.993) 33 Blank GGCCA G/T ACCTA NTC_019 FLD0264 FLD0288 synonymous TP53 c.537T>C c.537T>C(p.%3D) caT/caC chr17 7578393 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7578393", "IGV") low 1.000 2 no call LowQual 22 TP53_19 ENSG00000141510 5 of 11 CM0910925, TP53_g.12525T>G, TP53_g.12525T>C, TP53_g.12525T>A, COSM44214, COSM44793, COSM11249, COSM307264, COSM1158094, COSM307263, COSM1158095, COSM307265, COSM1158097, COSM3820720, COSM3388355, COSM1649385, COSM2744837, COSM307266, COSM1158096 14 Blank CGCTC A/G TGGTG NTC_019 FLD0264 FLD0288 stop_lost TP53 c.1180T>C p.*394RextTer9 Tga/Cga chr17 7572929 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7572929", "IGV") low 1.000 2 no call LowQual 22 TP53_2 ENSG00000141510 11 of 11 1 Blank ATGTC A/G GTCTG NTC_019 FLD0264 FLD0288 splice_acceptor TP53 c.1101-2A>C chr17 7573010 T G =hyperlink("http://localhost:60151/goto?locus=chr17:7573010", "IGV") low 1.000 2 no call LowQual 22 TP53_2 ENSG00000141510 10 of 10 rs587781664, CS111031, TP53_g.17908A>G, TP53_g.17908A>T, TP53_g.17908A>C, COSM1191161, COSM12663, COSM45409, COSM1386548, COSM1679487 1 Blank GTGGC T/G GTAGG NTC_019 FLD0264 FLD0288 intron TP53 c.1100+23T>C chr17 7573904 A G =hyperlink("http://localhost:60151/goto?locus=chr17:7573904", "IGV") low 1.000 2 no call LowQual 22 TP53_4 ENSG00000141510 10 of 10 rs747858937 17 Blank GGGCC A/G GGAAG NTC_019 FLD0264 FLD0288 nonsynonymous TP53 c.1069A>G p.K357E Aag/Gag chr17 7573958 T C =hyperlink("http://localhost:60151/goto?locus=chr17:7573958", "IGV") low 1.000 2 no call LowQual 22 TP53_4 ENSG00000141510 10 of 11 tolerated(0.36) benign(0.042) 26 Blank CTCCT T/C CCCAG