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 ACOXL 0 genome.wustl.edu 37 2 111551702 111551703 + Frame_Shift_Ins INS - - A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 2 111551702 111551703 - A INS ACOXL ENST00000439055 human ensembl 69_37n +1 known frame_shift_ins c.296_297 p.S99fs 1.000:1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase - no_errors ACOXL HGNC ENSG00000153093 217 0 0.00 260 1150 81.56 - - - ALDH16A1 0 genome.wustl.edu 37 19 49969502 49969503 + Frame_Shift_Ins INS - - G TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 19 49969502 49969503 - G INS ALDH16A1 ENST00000293350 human ensembl 69_37n +1 known frame_shift_ins c.1900_1901 p.A636fs 0.880:0.992 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 46 0 0.00 18 2 10.00 - - - AP4B1 0 genome.wustl.edu 37 1 114445454 114445455 + Frame_Shift_Ins INS - - G TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 1 114445454 114445455 - G INS AP4B1 ENST00000256658 human ensembl 69_37n -1 known frame_shift_ins c.144_143 p.V49fs 1.000:1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu - no_errors AP4B1 HGNC ENSG00000134262 130 0 0.00 98 62 38.75 - - - ASS1 0 genome.wustl.edu 37 9 133346274 133346274 + Frame_Shift_Del DEL G G - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 9 133346274 133346274 G - DEL ASS1 ENST00000334909 human ensembl 69_37n +1 known frame_shift_del c.549 p.N184fs 1.000 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 73 0 0.00 27 45 61.64 - - - AWAT2 0 genome.wustl.edu 37 X 69262054 69262054 + Missense_Mutation SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 X 69262054 69262054 C T SNP AWAT2 ENST00000276101 human ensembl 69_37n -1 known missense c.830 p.R277Q 0.002 pfam_DAGAT pfam_DAGAT - no_errors AWAT2 HGNC ENSG00000147160 102 0 0.00 131 20 13.25 - - - BCAR3 0 genome.wustl.edu 37 1 94057926 94057926 + Missense_Mutation SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 1 94057926 94057926 C T SNP BCAR3 ENST00000260502 human ensembl 69_37n -1 known missense c.382 p.D128N 1.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 69 0 0.00 50 21 29.58 - - - BMS1P5 0 genome.wustl.edu 37 10 48941207 48941207 + RNA SNP T T C TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 10 48941207 48941207 T C SNP BMS1P5 ENST00000436180 human ensembl 69_37n -1 known rna NULL NULL 0.995 - - - no_errors RP11-508M1.3 Clone_based_vega_gene ENSG00000204164 10 0 0.00 7 8 53.33 - - - BTN3A2 0 genome.wustl.edu 37 6 26368860 26368860 + Silent SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 6 26368860 26368860 C T SNP BTN3A2 ENST00000356386 human ensembl 69_37n +1 known silent c.153 p.P51 0.681 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors BTN3A2 HGNC ENSG00000186470 229 0 0.00 254 47 15.61 - - - C14orf169 0 genome.wustl.edu 37 14 73958591 73958594 + RNA DEL CCAG CCAG - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 CCAG CCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 14 73958591 73958594 CCAG - DEL C14orf169 ENST00000531973 human ensembl 69_37n +1 known rna NULL NULL 1.000:1.000:1.000:1.000 - - - no_errors C14orf169 HGNC ENSG00000255242 11 0 0.00 4 11 73.33 - - - C19orf40 0 genome.wustl.edu 37 19 33464409 33464409 + Frame_Shift_Del DEL A A - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 19 33464409 33464409 A - DEL C19orf40 ENST00000588258 human ensembl 69_37n +1 known frame_shift_del c.184 p.T62fs 1.000 NULL superfamily_RuvA_2-like - no_errors C19orf40 HGNC ENSG00000131944 204 0 0.00 93 244 66.85 - - - CCND3 0 genome.wustl.edu 37 6 41909275 41909275 + Frame_Shift_Del DEL T T - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 6 41909275 41909275 T - DEL CCND3 ENST00000372991 human ensembl 69_37n -1 known frame_shift_del c.113 p.Y38fs 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND3 HGNC ENSG00000112576 16 0 0.00 7 5 41.67 - - - CCND3 0 genome.wustl.edu 37 6 41909280 41909281 + Frame_Shift_Ins INS - - A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 6 41909280 41909281 - A INS CCND3 ENST00000372991 human ensembl 69_37n -1 known frame_shift_ins c.108_107 p.E36fs 1.000:1.000 pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND3 HGNC ENSG00000112576 14 0 0.00 6 4 40.00 - - - CCND3 0 genome.wustl.edu 37 6 41909284 41909284 + Frame_Shift_Del DEL T T - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 6 41909284 41909284 T - DEL CCND3 ENST00000372991 human ensembl 69_37n -1 known frame_shift_del c.104 p.E35fs 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND3 HGNC ENSG00000112576 14 0 0.00 6 4 40.00 - - - CCND3 0 genome.wustl.edu 37 6 41909290 41909291 + Frame_Shift_Ins INS - - AT TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 6 41909290 41909291 - AT INS CCND3 ENST00000372991 human ensembl 69_37n -1 known frame_shift_ins c.98_97 p.R33fs 1.000:1.000 pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND3 HGNC ENSG00000112576 12 0 0.00 5 4 44.44 - - - CGNL1 0 genome.wustl.edu 37 15 57730943 57730943 + Missense_Mutation SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 15 57730943 57730943 C T SNP CGNL1 ENST00000281282 human ensembl 69_37n +1 known missense c.746 p.A249V 0.128 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 102 0 0.00 72 44 37.93 - - - CLHC1 0 genome.wustl.edu 37 2 55408757 55408757 + Missense_Mutation SNP C C A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 2 55408757 55408757 C A SNP CLHC1 ENST00000401408 human ensembl 69_37n -1 known missense c.1130 p.G377V 0.990 superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel - no_errors CLHC1 HGNC ENSG00000162994 99 0 0.00 100 29 22.31 - - - CMIP 0 genome.wustl.edu 37 16 81739192 81739193 + Frame_Shift_Del DEL GC GC - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 16 81739192 81739193 GC - DEL CMIP ENST00000537098 human ensembl 69_37n +1 known frame_shift_del c.2180_2181 p.G727fs 1.000:0.909 NULL NULL - no_errors CMIP HGNC ENSG00000153815 9 0 0.00 2 7 77.78 - - - DENND4B 0 genome.wustl.edu 37 1 153916828 153916829 + Frame_Shift_Ins INS - - G TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 1 153916828 153916829 - G INS DENND4B ENST00000361217 human ensembl 69_37n -1 known frame_shift_ins c.23_22 p.R8fs 1.000:1.000 pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 18 0 0.00 8 2 20.00 - - - DIRC2 0 genome.wustl.edu 37 3 122545885 122545885 + Missense_Mutation SNP G G A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 3 122545885 122545885 G A SNP DIRC2 ENST00000261038 human ensembl 69_37n +1 known missense c.676 p.D226N 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 110 0 0.00 178 62 25.83 - - - DNAH6 0 genome.wustl.edu 37 2 84774616 84774616 + Missense_Mutation SNP G G T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 2 84774616 84774616 G T SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.1066 p.V356L 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 273 0 0.00 170 39 18.66 - - - EPB41L2 0 genome.wustl.edu 37 6 131206388 131206389 + Frame_Shift_Ins INS - - T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 6 131206388 131206389 - T INS EPB41L2 ENST00000337057 human ensembl 69_37n -1 known frame_shift_ins c.1681_1680 p.Q560fs 1.000:1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 209 0 0.00 157 256 61.99 - - - FAM129A 0 genome.wustl.edu 37 1 184764568 184764568 + Frame_Shift_Del DEL C C - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 1 184764568 184764568 C - DEL FAM129A ENST00000367511 human ensembl 69_37n -1 known frame_shift_del c.2330 p.C777fs 0.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 135 0 0.00 89 56 37.58 - - - GAPVD1 0 genome.wustl.edu 37 9 128117999 128117999 + Missense_Mutation SNP G G A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 9 128117999 128117999 G A SNP GAPVD1 ENST00000394105 human ensembl 69_37n +1 known missense c.3915 p.M1305I 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 62 0 0.00 65 20 23.53 - - - GARNL3 0 genome.wustl.edu 37 9 130153011 130153011 + Silent SNP C C A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 9 130153011 130153011 C A SNP GARNL3 ENST00000373387 human ensembl 69_37n +1 known silent c.2835 p.P945 0.998 NULL pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP - no_errors GARNL3 HGNC ENSG00000136895 134 0 0.00 163 32 16.33 - - - GPHN 0 genome.wustl.edu 37 14 67555794 67555794 + Splice_Site DEL T T - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 14 67555794 67555794 T - DEL GPHN ENST00000478722 human ensembl 69_37n +1 known splice_site_del c.1237+2 e12+2 1.000 - - - no_errors GPHN HGNC ENSG00000171723 104 0 0.00 71 76 49.67 - - - HECTD4 0 genome.wustl.edu 37 12 112623045 112623046 + Frame_Shift_Ins INS - - C TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 12 112623045 112623046 - C INS HECTD4 ENST00000377560 human ensembl 69_37n -1 known frame_shift_ins c.9209_9208 p.A3070fs 0.000:0.001 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 25 0 0.00 16 6 27.27 - - - HERC2 0 genome.wustl.edu 37 15 28389827 28389828 + Frame_Shift_Del DEL GG GG - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 15 28389827 28389828 GG - DEL HERC2 ENST00000261609 human ensembl 69_37n -1 known frame_shift_del c.11132_11131 p.P3711fs 1.000:1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 97 0 0.00 101 65 39.16 - - - HERC2 0 genome.wustl.edu 37 15 28389831 28389834 + Frame_Shift_Del DEL TGAT TGAT - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 TGAT TGAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 15 28389831 28389834 TGAT - DEL HERC2 ENST00000261609 human ensembl 69_37n -1 known frame_shift_del c.11128_11125 p.I3709fs 1.000:1.000:1.000:1.000 superfamily_CUB pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 101 0 0.00 98 65 39.88 - - - HSPA2 0 genome.wustl.edu 37 14 65008807 65008807 + Frame_Shift_Del DEL A A - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 14 65008807 65008807 A - DEL HSPA2 ENST00000247207 human ensembl 69_37n +1 known frame_shift_del c.1240 p.T414fs 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 22 0 0.00 16 9 36.00 - - - IQSEC1 0 genome.wustl.edu 37 3 12950804 12950804 + Frame_Shift_Del DEL T T - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 3 12950804 12950804 T - DEL IQSEC1 ENST00000273221 human ensembl 69_37n -1 known frame_shift_del c.2589 p.V864fs 1.000 smart_Pleckstrin_homology pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC1 HGNC ENSG00000144711 64 0 0.00 14 2 12.50 - - - KATNAL2 0 genome.wustl.edu 37 18 44595970 44595973 + Frame_Shift_Del DEL GGGT GGGT - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 GGGT GGGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 18 44595970 44595973 GGGT - DEL KATNAL2 ENST00000245121 human ensembl 69_37n +1 known frame_shift_del c.791_792 p.L266fs 1.000:1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors KATNAL2 HGNC ENSG00000167216 207 0 0.00 193 146 42.94 - - - KAZN 0 genome.wustl.edu 37 1 15392250 15392250 + Splice_Site SNP G G A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 1 15392250 15392250 G A SNP KAZN ENST00000376030 human ensembl 69_37n +1 known splice_site c.1222+1 e8+1 1.000 - - - no_errors KAZN HGNC ENSG00000189337 60 0 0.00 26 19 42.22 - - - KRT8 0 genome.wustl.edu 37 12 53295661 53295662 + Frame_Shift_Ins INS - - T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 12 53295661 53295662 - T INS KRT8 ENST00000293308 human ensembl 69_37n -1 known frame_shift_ins c.520_519 p.D173fs 1.000:1.000 pfam_F,prints_Keratin_II,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 158 0 0.00 55 48 46.60 - - - KRT8 0 genome.wustl.edu 37 12 53295662 53295663 + Frame_Shift_Ins INS - - T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 12 53295662 53295663 - T INS KRT8 ENST00000293308 human ensembl 69_37n -1 known frame_shift_ins c.519_518 p.D174fs 1.000:1.000 pfam_F,prints_Keratin_II,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 156 0 0.00 50 48 48.98 - - - KRTAP4-9 0 genome.wustl.edu 37 17 39262140 39262140 + Missense_Mutation SNP C C A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 17 39262140 39262140 C A SNP KRTAP4-9 ENST00000391415 human ensembl 69_37n +1 known missense c.500 p.S167Y 0.896 NULL pfam_Keratin-assoc - no_errors KRTAP4-9 HGNC ENSG00000212722 139 0 0.00 95 26 21.49 - - - LCMT2 0 genome.wustl.edu 37 15 43621743 43621743 + Frame_Shift_Del DEL G G - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 15 43621743 43621743 G - DEL LCMT2 ENST00000305641 human ensembl 69_37n -1 known frame_shift_del c.945 p.D315fs 0.001 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 31 0 0.00 16 52 76.47 - - - LCMT2 0 genome.wustl.edu 37 15 43621750 43621751 + Frame_Shift_Del DEL CT CT - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 15 43621750 43621751 CT - DEL LCMT2 ENST00000305641 human ensembl 69_37n -1 known frame_shift_del c.938_937 p.R313fs 0.000:0.001 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 32 0 0.00 16 44 72.13 - - - LCMT2 0 genome.wustl.edu 37 15 43621756 43621759 + Frame_Shift_Del DEL GCTG GCTG - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 GCTG GCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 15 43621756 43621759 GCTG - DEL LCMT2 ENST00000305641 human ensembl 69_37n -1 known frame_shift_del c.932_929 p.A310fs 0.998:0.999:0.995:1.000 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 31 0 0.00 12 44 78.57 - - - MAP3K1 0 genome.wustl.edu 37 5 56161284 56161284 + Splice_Site SNP G G T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 5 56161284 56161284 G T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel splice_site c.1152+1 e5+1 1.000 - - - no_errors MAP3K1 HGNC ENSG00000095015 51 0 0.00 41 7 14.58 - - - MAP3K1 0 genome.wustl.edu 37 5 56170973 56170973 + Nonsense_Mutation SNP G G T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 5 56170973 56170973 G T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel nonsense c.1801 p.E601* 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 199 0 0.00 190 69 26.64 - - - MEIS2 0 genome.wustl.edu 37 15 37186997 37186997 + Missense_Mutation SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 15 37186997 37186997 C T SNP MEIS2 ENST00000424352 human ensembl 69_37n -1 known missense c.1164 p.M388I 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS2 HGNC ENSG00000134138 140 0 0.00 152 96 38.71 - - - METTL7A 0 genome.wustl.edu 37 12 51323842 51323842 + Missense_Mutation SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 12 51323842 51323842 C T SNP METTL7A ENST00000332160 human ensembl 69_37n +1 known missense c.644 p.A215V 0.791 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel,pfam_SAM-MeTfrase_NodS-related - no_errors METTL7A HGNC ENSG00000185432 114 0 0.00 96 23 19.33 - - - MRFAP1L1 0 genome.wustl.edu 37 4 6711224 6711224 + Missense_Mutation SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 4 6711224 6711224 C T SNP MRFAP1L1 ENST00000320848 human ensembl 69_37n -1 known missense c.133 p.E45K 0.245 NULL NULL - no_errors MRFAP1L1 HGNC ENSG00000178988 60 0 0.00 63 43 40.57 - - - MSL3 0 genome.wustl.edu 37 X 11783689 11783689 + Missense_Mutation SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 X 11783689 11783689 C T SNP MSL3 ENST00000312196 human ensembl 69_37n +1 known missense c.1012 p.R338C 1.000 pfam_MRG pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 136 0 0.00 122 26 17.57 - - - MYH10 0 genome.wustl.edu 37 17 8409779 8409780 + Frame_Shift_Ins INS - - AG TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 17 8409779 8409780 - AG INS MYH10 ENST00000396239 human ensembl 69_37n -1 known frame_shift_ins c.3213_3212 p.Q1072fs 0.795:1.000 superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 211 0 0.00 116 145 55.56 - - - MYH2 0 genome.wustl.edu 37 17 10436912 10436912 + Frame_Shift_Del DEL G G - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 17 10436912 10436912 G - DEL MYH2 ENST00000245503 human ensembl 69_37n -1 known frame_shift_del c.2218 p.Q740fs 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 135 0 0.00 129 213 59.66 - - - MYH9 0 genome.wustl.edu 37 22 36702609 36702610 + Frame_Shift_Ins INS - - A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 22 36702609 36702610 - A INS MYH9 ENST00000216181 human ensembl 69_37n -1 known frame_shift_ins c.1888_1887 p.T629fs 0.996:0.985 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 24 0 0.00 19 7 26.92 - - - MYO10 0 genome.wustl.edu 37 5 16935911 16935912 + Frame_Shift_Ins INS - - G TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 5 16935911 16935912 - G INS MYO10 ENST00000513610 human ensembl 69_37n -1 known frame_shift_ins c.7_6 p.N2fs 1.000:0.999 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 36 0 0.00 9 5 35.71 - - - MYRIP 0 genome.wustl.edu 37 3 40275393 40275393 + Missense_Mutation SNP T T C TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 3 40275393 40275393 T C SNP MYRIP ENST00000302541 human ensembl 69_37n +1 known missense c.1949 p.L650P 1.000 pfam_Myelin-assoc_OBP pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC ENSG00000170011 92 0 0.00 71 17 19.32 - - - NFRKB 0 genome.wustl.edu 37 11 129752350 129752350 + Missense_Mutation SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 11 129752350 129752350 C T SNP NFRKB ENST00000524794 human ensembl 69_37n -1 known missense c.1153 p.E385K 1.000 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 193 0 0.00 138 29 17.37 - - - NID1 0 genome.wustl.edu 37 1 236201470 236201470 + Missense_Mutation SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 1 236201470 236201470 C T SNP NID1 ENST00000264187 human ensembl 69_37n -1 known missense c.1219 p.A407T 0.000 smart_EGF-like_Ca-bd,smart_EGF-like pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 100 0 0.00 105 32 23.19 - - - PCDHB8 0 genome.wustl.edu 37 5 140558352 140558352 + Missense_Mutation SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 5 140558352 140558352 C T SNP PCDHB8 ENST00000239444 human ensembl 69_37n +1 known missense c.737 p.P246L 0.036 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 78 0 0.00 36 33 47.83 - - - PCDHGA2 0 genome.wustl.edu 37 5 140718636 140718636 + Frame_Shift_Del DEL A A - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 5 140718636 140718636 A - DEL PCDHGA2 ENST00000394576 human ensembl 69_37n +1 known frame_shift_del c.98 p.Y33fs 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 92 0 0.00 63 30 31.58 - - - PDE12 0 genome.wustl.edu 37 3 57542741 57542741 + Frame_Shift_Del DEL T T - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 3 57542741 57542741 T - DEL PDE12 ENST00000311180 human ensembl 69_37n +1 known frame_shift_del c.635 p.V212fs 0.544 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC ENSG00000174840 47 0 0.00 44 13 20.97 - - - PFKFB4 0 genome.wustl.edu 37 3 48561136 48561136 + Missense_Mutation SNP G G T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 3 48561136 48561136 G T SNP PFKFB4 ENST00000232375 human ensembl 69_37n -1 known missense c.1220 p.A407E 1.000 pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB4 HGNC ENSG00000114268 57 0 0.00 95 17 15.18 - - - PHF23 0 genome.wustl.edu 37 17 7139066 7139066 + Frame_Shift_Del DEL T T - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 17 7139066 7139066 T - DEL PHF23 ENST00000320316 human ensembl 69_37n -1 known frame_shift_del c.1091 p.H364fs 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 70 0 0.00 46 67 57.76 - - - PIGM 0 genome.wustl.edu 37 1 160000642 160000643 + Frame_Shift_Ins INS - - A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 1 160000642 160000643 - A INS PIGM ENST00000368090 human ensembl 69_37n -1 known frame_shift_ins c.888_887 p.P297fs 0.948:1.000 pfam_Mannosyltransferase_DXD pfam_Mannosyltransferase_DXD - no_errors PIGM HGNC ENSG00000143315 353 0 0.00 202 48 19.20 - - - PIK3CA 0 genome.wustl.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 3 178938934 178938934 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.2176 p.E726K 1.000 superfamily_Kinase-like_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 64 0 0.00 95 21 18.10 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 83 0 0.00 64 31 32.63 - - - PKP1 0 genome.wustl.edu 37 1 201287868 201287868 + Frame_Shift_Del DEL A A - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 1 201287868 201287868 A - DEL PKP1 ENST00000263946 human ensembl 69_37n +1 known frame_shift_del c.1177 p.M393fs 0.994 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 97 0 0.00 84 129 57.33 - - - PLCB2 0 genome.wustl.edu 37 15 40580976 40580977 + Frame_Shift_Ins INS - - G TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 15 40580976 40580977 - G INS PLCB2 ENST00000260402 human ensembl 69_37n -1 known frame_shift_ins c.3498_3497 p.E1167fs 0.029:0.000 NULL pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 74 0 0.00 20 3 13.04 - - - PLEKHG4 0 genome.wustl.edu 37 16 67314191 67314191 + Frame_Shift_Del DEL G G - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 16 67314191 67314191 G - DEL PLEKHG4 ENST00000360461 human ensembl 69_37n +1 known frame_shift_del c.244 p.A82fs 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 41 0 0.00 10 12 52.17 - - - PLXNA3 0 genome.wustl.edu 37 X 153692649 153692650 + Frame_Shift_Ins INS - - A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 X 153692649 153692650 - A INS PLXNA3 ENST00000369682 human ensembl 69_37n +1 known frame_shift_ins c.1821_1822 p.G607fs 0.342:0.461 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 18 0 0.00 5 7 58.33 - - - PLXNB3 0 genome.wustl.edu 37 X 153037690 153037691 + Frame_Shift_Ins INS - - AAGC TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 X 153037690 153037691 - AAGC INS PLXNB3 ENST00000538966 human ensembl 69_37n +1 known frame_shift_ins c.2792_2793 p.A932fs 0.987:0.958 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB3 HGNC ENSG00000198753 14 0 0.00 4 2 33.33 - - - PLXND1 0 genome.wustl.edu 37 3 129281687 129281687 + Frame_Shift_Del DEL C C - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 3 129281687 129281687 C - DEL PLXND1 ENST00000324093 human ensembl 69_37n -1 known frame_shift_del c.4768 p.A1590fs 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXND1 HGNC ENSG00000004399 88 0 0.00 29 26 46.43 - - - PLXND1 0 genome.wustl.edu 37 3 129282067 129282067 + Frame_Shift_Del DEL G G - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 3 129282067 129282067 G - DEL PLXND1 ENST00000324093 human ensembl 69_37n -1 known frame_shift_del c.4538 p.P1513fs 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXND1 HGNC ENSG00000004399 54 0 0.00 37 34 47.89 - - - PMS2CL 0 genome.wustl.edu 37 7 6777566 6777568 + Splice_Site DEL AGG AGG - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 7 6777566 6777568 AGG - DEL PMS2CL ENST00000431453 human ensembl 69_37n +1 known splice_site_del c.NULL NULL 1.000:1.000:1.000 - - - no_errors PMS2CL HGNC ENSG00000187953 45 0 0.00 95 172 61.43 - - - POLR1C 0 genome.wustl.edu 37 6 43484915 43484915 + Missense_Mutation SNP A A G TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 6 43484915 43484915 A G SNP POLR1C ENST00000372389 human ensembl 69_37n +1 known missense c.68 p.N23S 1.000 NULL pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 195 0 0.00 134 35 20.71 - - - RGPD4 0 genome.wustl.edu 37 2 108479275 108479275 + Silent SNP A A G TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 2 108479275 108479275 A G SNP RGPD4 ENST00000354986 human ensembl 69_37n +1 known silent c.2343 p.P781 0.994 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 27 0 0.00 21 4 16.00 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037843 10037843 + RNA SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 Y 10037843 10037843 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 13 0 0.00 10 6 37.50 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037883 10037883 + RNA SNP G G A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 Y 10037883 10037883 G A SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 10 0 0.00 10 6 37.50 - - - SAPCD2 0 genome.wustl.edu 37 9 139960101 139960101 + Frame_Shift_Del DEL A A - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 9 139960101 139960101 A - DEL SAPCD2 ENST00000409687 human ensembl 69_37n -1 known frame_shift_del c.704 p.L235fs 1.000 NULL NULL - no_errors SAPCD2 HGNC ENSG00000186193 25 0 0.00 13 271 89.74 - - - SF3B14 0 genome.wustl.edu 37 2 24291262 24291262 + Frame_Shift_Del DEL C C - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 2 24291262 24291262 C - DEL SF3B14 ENST00000233468 human ensembl 69_37n -1 known frame_shift_del c.217 p.A73fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors AC008073.5 Clone_based_vega_gene ENSG00000115128 176 0 0.00 68 38 35.51 - - - SF3B14 0 genome.wustl.edu 37 2 24291264 24291264 + Frame_Shift_Del DEL T T - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 2 24291264 24291264 T - DEL SF3B14 ENST00000233468 human ensembl 69_37n -1 known frame_shift_del c.215 p.N72fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors AC008073.5 Clone_based_vega_gene ENSG00000115128 174 0 0.00 68 38 35.85 - - - SNRNP200 0 genome.wustl.edu 37 2 96949670 96949671 + Frame_Shift_Ins INS - - A TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 2 96949670 96949671 - A INS SNRNP200 ENST00000323853 human ensembl 69_37n -1 known frame_shift_ins c.4465_4464 p.A1488fs 1.000:1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 58 0 0.00 57 37 39.36 - - - SNTG1 0 genome.wustl.edu 37 8 51449300 51449300 + Silent SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 8 51449300 51449300 C T SNP SNTG1 ENST00000518864 human ensembl 69_37n +1 known silent c.612 p.C204 1.000 smart_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 137 0 0.00 122 22 15.28 - - - SPAG6 0 genome.wustl.edu 37 10 22634774 22634775 + Frame_Shift_Ins INS - - C TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 10 22634774 22634775 - C INS SPAG6 ENST00000376603 human ensembl 69_37n +1 known frame_shift_ins c.148_149 p.R52fs 0.000:0.000 NULL pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 27 0 0.00 16 2 11.11 - - - SPTB 0 genome.wustl.edu 37 14 65262236 65262237 + Frame_Shift_Ins INS - - G TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 14 65262236 65262237 - G INS SPTB ENST00000389722 human ensembl 69_37n -1 known frame_shift_ins c.1463_1462 p.L488fs 1.000:1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 69 0 0.00 55 37 40.22 - - - TAGAP 0 genome.wustl.edu 37 6 159457074 159457075 + Frame_Shift_Ins INS - - T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 6 159457074 159457075 - T INS TAGAP ENST00000367066 human ensembl 69_37n -1 known frame_shift_ins c.1981_1980 p.S660fs 0.000:0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 89 0 0.00 40 20 33.33 - - - TBC1D9B 0 genome.wustl.edu 37 5 179302103 179302104 + Frame_Shift_Ins INS - - C TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 5 179302103 179302104 - C INS TBC1D9B ENST00000356834 human ensembl 69_37n -1 known frame_shift_ins c.1985_1984 p.V662fs 1.000:1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 45 0 0.00 15 2 11.76 - - - TCP11 0 genome.wustl.edu 37 6 35108559 35108560 + Frame_Shift_Ins INS - - G TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 6 35108559 35108560 - G INS TCP11 ENST00000311875 human ensembl 69_37n -1 known frame_shift_ins c.128_127 p.Q43fs 0.000:0.004 NULL pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 34 0 0.00 17 3 15.00 - - - TUBA3C 0 genome.wustl.edu 37 13 19752393 19752393 + Missense_Mutation SNP C C T TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 13 19752393 19752393 C T SNP TUBA3C ENST00000400113 human ensembl 69_37n -1 known missense c.368 p.R123H 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 134 0 0.00 60 16 21.05 - - - ZNF48 0 genome.wustl.edu 37 16 30409493 30409494 + Frame_Shift_Ins INS - - C TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 16 30409493 30409494 - C INS ZNF48 ENST00000320159 human ensembl 69_37n +1 known frame_shift_ins c.922_923 p.C308fs 1.000:1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 57 0 0.00 56 42 42.86 - - - ZNF646 0 genome.wustl.edu 37 16 31088769 31088769 + Frame_Shift_Del DEL G G - TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 16 31088769 31088769 G - DEL ZNF646 ENST00000300850 human ensembl 69_37n +1 known frame_shift_del c.1124 p.R375fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 20 0 0.00 8 5 38.46 - - - ZNF878 0 genome.wustl.edu 37 19 12154864 12154864 + Missense_Mutation SNP T T G TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a776e274-fe9f-49a9-83ab-95ca6819c96b a1bb0524-fef9-405d-8e55-4c8ab74efb16 19 12154864 12154864 T G SNP ZNF878 ENST00000547628 human ensembl 69_37n -1 novel missense c.1352 p.Y451S 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF878 HGNC ENSG00000257446 108 0 0.00 109 20 15.50 - - -