Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ADAMTS14 0 genome.wustl.edu 37 10 72511877 72511877 + Missense_Mutation SNP C C T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 10 72511877 72511877 C T SNP ADAMTS14 ENST00000373208 human ensembl 69_37n +1 known missense c.2632 p.R878W 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 114 0 0.00 33 5 13.16 - - - ANP32A 0 genome.wustl.edu 37 15 69079873 69079873 + Missense_Mutation SNP A A C TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 15 69079873 69079873 A C SNP ANP32A ENST00000465139 human ensembl 69_37n -1 known missense c.206 p.L69R 1.000 NULL pfam_Leu-rich_rpt,smart_U2A'_phosphoprotein32A_C - no_errors ANP32A HGNC ENSG00000140350 58 0 0.00 28 11 28.21 - - - ARPC5 0 genome.wustl.edu 37 1 183596216 183596216 + RNA SNP G G A TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 1 183596216 183596216 G A SNP ARPC5 ENST00000462965 human ensembl 69_37n -1 known rna NULL NULL 0.990 - - - no_errors ARPC5 HGNC ENSG00000162704 41 0 0.00 26 8 23.53 - - - BAZ1A 0 genome.wustl.edu 37 14 35269544 35269544 + Missense_Mutation SNP C C A TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 14 35269544 35269544 C A SNP BAZ1A ENST00000360310 human ensembl 69_37n -1 known missense c.1014 p.K338N 0.975 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 25 0 0.00 12 6 33.33 - - - BLMH 0 genome.wustl.edu 37 17 28598355 28598355 + Silent SNP C C A TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 17 28598355 28598355 C A SNP BLMH ENST00000261714 human ensembl 69_37n -1 known silent c.1080 p.A360 0.575 pfam_Peptidase_C1B,pirsf_Peptidase_C1B pfam_Peptidase_C1B,pirsf_Peptidase_C1B - no_errors BLMH HGNC ENSG00000108578 86 0 0.00 32 8 20.00 - - - C1QTNF2 0 genome.wustl.edu 37 5 159781942 159781943 + Frame_Shift_Ins INS - - C TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 5 159781942 159781943 - C INS C1QTNF2 ENST00000393975 human ensembl 69_37n -1 known frame_shift_ins c.212_211 p.D71fs 0.993:0.994 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 51 0 0.00 13 2 13.33 - - - CA2 0 genome.wustl.edu 37 8 86392979 86392979 + Missense_Mutation SNP G G T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 8 86392979 86392979 G T SNP CA2 ENST00000285379 human ensembl 69_37n +1 known missense c.744 p.Q248H 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 58 0 0.00 50 6 10.71 - - - CCDC61 0 genome.wustl.edu 37 19 46506715 46506715 + Nonsense_Mutation SNP C C T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 19 46506715 46506715 C T SNP CCDC61 ENST00000263284 human ensembl 69_37n +1 known nonsense c.358 p.Q120* 1.000 NULL NULL - no_errors CCDC61 HGNC ENSG00000104983 52 0 0.00 25 10 28.57 - - - DMXL2 0 genome.wustl.edu 37 15 51780830 51780830 + Frame_Shift_Del DEL A A - TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 15 51780830 51780830 A - DEL DMXL2 ENST00000543779 human ensembl 69_37n -1 known frame_shift_del c.4966 p.S1656fs 0.997 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 56 0 0.00 10 2 16.67 - - - EML5 0 genome.wustl.edu 37 14 89154694 89154694 + Missense_Mutation SNP C C T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 14 89154694 89154694 C T SNP EML5 ENST00000554922 human ensembl 69_37n -1 known missense c.2663 p.C888Y 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 126 0 0.00 34 18 34.62 - - - ERBB4 0 genome.wustl.edu 37 2 212587168 212587168 + Missense_Mutation SNP T T C TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 2 212587168 212587168 T C SNP ERBB4 ENST00000342788 human ensembl 69_37n -1 known missense c.833 p.N278S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 100 0 0.00 43 21 32.81 - - - FBN3 0 genome.wustl.edu 37 19 8176940 8176940 + Silent SNP G G A TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 19 8176940 8176940 G A SNP FBN3 ENST00000270509 human ensembl 69_37n -1 known silent c.3882 p.H1294 0.566 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 61 0 0.00 25 4 13.79 - - - FLRT2 0 genome.wustl.edu 37 14 86088823 86088823 + Missense_Mutation SNP C C T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 14 86088823 86088823 C T SNP FLRT2 ENST00000330753 human ensembl 69_37n +1 known missense c.965 p.T322I 0.995 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 150 0 0.00 69 11 13.75 - - - GALNT1 0 genome.wustl.edu 37 18 33257560 33257560 + Missense_Mutation SNP A A G TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 18 33257560 33257560 A G SNP GALNT1 ENST00000269195 human ensembl 69_37n +1 known missense c.320 p.K107R 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT1 HGNC ENSG00000141429 38 0 0.00 16 5 23.81 - - - GBE1 0 genome.wustl.edu 37 3 81630320 81630320 + Missense_Mutation SNP T T A TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 3 81630320 81630320 T A SNP GBE1 ENST00000429644 human ensembl 69_37n -1 known missense c.1442 p.D481V 1.000 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 52 0 0.00 31 9 22.50 - - - HOOK2 0 genome.wustl.edu 37 19 12875997 12875997 + RNA SNP C C T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 19 12875997 12875997 C T SNP HOOK2 ENST00000589965 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors HOOK2 HGNC ENSG00000095066 34 0 0.00 11 4 26.67 - - - HRCT1 0 genome.wustl.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 9 35906348 35906350 CTG - DEL HRCT1 ENST00000354323 human ensembl 69_37n +1 known in_frame_del c.64_66 p.L25in_frame_del 0.168:0.493:0.516 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 34 0 0.00 19 3 13.64 - - - KLF11 0 genome.wustl.edu 37 2 10192480 10192480 + Missense_Mutation SNP G G A TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 2 10192480 10192480 G A SNP KLF11 ENST00000305883 human ensembl 69_37n +1 known missense c.1385 p.R462H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF11 HGNC ENSG00000172059 53 0 0.00 24 7 22.58 - - - LRBA 0 genome.wustl.edu 37 4 151199019 151199019 + Missense_Mutation SNP C C A TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 4 151199019 151199019 C A SNP LRBA ENST00000509835 human ensembl 69_37n -1 novel missense c.4412 p.C1471F 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LRBA HGNC ENSG00000198589 87 0 0.00 46 6 11.54 - - - LRRTM1 0 genome.wustl.edu 37 2 80530774 80530774 + Silent SNP G G A TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 2 80530774 80530774 G A SNP LRRTM1 ENST00000295057 human ensembl 69_37n -1 known silent c.171 p.L57 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 30 0 0.00 13 10 43.48 - - - MAML2 0 genome.wustl.edu 37 11 95712715 95712715 + Missense_Mutation SNP C C T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 11 95712715 95712715 C T SNP MAML2 ENST00000440572 human ensembl 69_37n -1 known missense c.2868 p.M956I 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 223 0 0.00 82 11 11.83 - - - MYO5C 0 genome.wustl.edu 37 15 52510875 52510875 + Frame_Shift_Del DEL T T - TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 15 52510875 52510875 T - DEL MYO5C ENST00000261839 human ensembl 69_37n -1 known frame_shift_del c.3795 p.A1266fs 0.210 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 53 0 0.00 13 2 13.33 - - - NAAA 0 genome.wustl.edu 37 4 76835445 76835446 + RNA DEL TT TT - TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 4 76835445 76835446 TT - DEL NAAA ENST00000511606 human ensembl 69_37n -1 known rna NULL NULL 0.000:0.001 - - - no_errors NAAA HGNC ENSG00000138744 29 0 0.00 15 2 11.76 - - - NCOA7 0 genome.wustl.edu 37 6 126243859 126243859 + Missense_Mutation SNP G G T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 6 126243859 126243859 G T SNP NCOA7 ENST00000368357 human ensembl 69_37n +1 known missense c.2402 p.G801V 1.000 smart_TLDc pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 132 0 0.00 34 4 10.53 - - - ODF3L2 0 genome.wustl.edu 37 19 474621 474621 + Missense_Mutation SNP C C T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 19 474621 474621 C T SNP ODF3L2 ENST00000315489 human ensembl 69_37n -1 known missense c.127 p.G43S 0.398 NULL pfam_SHIPPO-rpt - no_errors ODF3L2 HGNC ENSG00000181781 75 0 0.00 33 7 17.50 - - - OS9 0 genome.wustl.edu 37 12 58088018 58088018 + Missense_Mutation SNP C C G TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 12 58088018 58088018 C G SNP OS9 ENST00000315970 human ensembl 69_37n +1 known missense c.74 p.T25S 0.008 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 53 0 0.00 21 13 38.24 - - - OTUD7A 0 genome.wustl.edu 37 15 31947336 31947336 + Silent SNP C C T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 15 31947336 31947336 C T SNP OTUD7A ENST00000382902 human ensembl 69_37n -1 known silent c.114 p.T38 0.879 superfamily_UBA-like pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 90 0 0.00 42 14 25.00 - - - OXSM 0 genome.wustl.edu 37 3 25833071 25833071 + Frame_Shift_Del DEL T T - TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 3 25833071 25833071 T - DEL OXSM ENST00000280701 human ensembl 69_37n +1 known frame_shift_del c.560 p.M187fs 1.000 pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 - no_errors OXSM HGNC ENSG00000151093 55 0 0.00 29 13 30.23 - - - PCDHB16 0 genome.wustl.edu 37 5 140563853 140563853 + Silent SNP T T C TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 5 140563853 140563853 T C SNP PCDHB16 ENST00000361016 human ensembl 69_37n +1 known silent c.1719 p.T573 0.897 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 84 0 0.00 53 10 15.87 - - - PCLO 0 genome.wustl.edu 37 7 82581718 82581718 + Missense_Mutation SNP C C T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 7 82581718 82581718 C T SNP PCLO ENST00000333891 human ensembl 69_37n -1 known missense c.8551 p.A2851T 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 108 0 0.00 81 29 26.36 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 69 0 0.00 22 12 35.29 - - - RREB1 0 genome.wustl.edu 37 6 7230726 7230726 + Silent SNP G G C TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 6 7230726 7230726 G C SNP RREB1 ENST00000379938 human ensembl 69_37n +1 known silent c.2394 p.A798 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 9 0 0.00 0 5 100.00 - - - TOM1L2 0 genome.wustl.edu 37 17 17786097 17786097 + Silent SNP C C T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f4481d7e-4544-4c76-be94-4cdc1ccce963 f1b073ac-cdeb-482f-bc59-1e8376aa7cc6 17 17786097 17786097 C T SNP TOM1L2 ENST00000379504 human ensembl 69_37n -1 known silent c.582 p.S194 0.025 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 53 0 0.00 11 10 47.62 - - -