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 ADAMTS15 0 genome.wustl.edu 37 11 130343335 130343335 + Silent SNP C C T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 11 130343335 130343335 C T SNP ADAMTS15 ENST00000299164 human ensembl 69_37n +1 known silent c.2472 p.S824 0.920 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 28 0 0.00 16 7 30.43 - - - ARID1A 0 genome.wustl.edu 37 1 27094455 27094456 + Frame_Shift_Del DEL TA TA - TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 1 27094455 27094456 TA - DEL ARID1A ENST00000324856 human ensembl 69_37n +1 known frame_shift_del c.3163_3164 p.Y1055fs 1.000:1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 123 0 0.00 101 43 29.86 - - - C17orf76-AS1 0 genome.wustl.edu 37 17 16344474 16344475 + RNA INS - - T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 17 16344474 16344475 - T INS C17orf76-AS1 ENST00000460249 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 84 0 0.00 70 33 32.04 - - - CADPS 0 genome.wustl.edu 37 3 62578366 62578366 + Silent SNP C C T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 3 62578366 62578366 C T SNP CADPS ENST00000383710 human ensembl 69_37n -1 known silent c.1383 p.K461 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 220 0 0.00 90 42 31.82 - - - CCDC108 0 genome.wustl.edu 37 2 219892686 219892687 + Frame_Shift_Ins INS - - G TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 2 219892686 219892687 - G INS CCDC108 ENST00000341552 human ensembl 69_37n -1 known frame_shift_ins c.1897_1896 p.M632fs 1.000:1.000 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 48 0 0.00 26 4 13.33 - - - CCNL2 0 genome.wustl.edu 37 1 1325651 1325652 + Frame_Shift_Ins INS - - G TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 1 1325651 1325652 - G INS CCNL2 ENST00000400809 human ensembl 69_37n -1 known frame_shift_ins c.965_964 p.V322fs 0.000:0.000 pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 54 0 0.00 58 37 38.95 - - - CCR10 0 genome.wustl.edu 37 17 40832609 40832609 + Frame_Shift_Del DEL A A - TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 17 40832609 40832609 A - DEL CCR10 ENST00000332438 human ensembl 69_37n -1 known frame_shift_del c.51 p.D17fs 0.000 prints_Chemokine_CCR10 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR10,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CCR10 HGNC ENSG00000184451 17 0 0.00 3 56 93.33 - - - CRTC2 0 genome.wustl.edu 37 1 153927365 153927365 + Missense_Mutation SNP C C T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 1 153927365 153927365 C T SNP CRTC2 ENST00000368633 human ensembl 69_37n -1 known missense c.356 p.R119H 1.000 NULL NULL - no_errors CRTC2 HGNC ENSG00000160741 72 0 0.00 59 23 27.71 - - - DHX32 0 genome.wustl.edu 37 10 127529507 127529509 + In_Frame_Del DEL CCA CCA - TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 10 127529507 127529509 CCA - DEL DHX32 ENST00000284690 human ensembl 69_37n -1 known in_frame_del c.1602_1600 p.W534in_frame_del 0.612:0.621:0.423 pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 114 0 0.00 125 30 18.99 - - - DOCK8 0 genome.wustl.edu 37 9 377063 377063 + Silent SNP C C T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 9 377063 377063 C T SNP DOCK8 ENST00000453981 human ensembl 69_37n +1 known silent c.2292 p.I764 1.000 NULL pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 29 0 0.00 51 11 17.74 - - - FRG1B 0 genome.wustl.edu 37 20 29612263 29612263 + RNA SNP G G A TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 20 29612263 29612263 G A SNP FRG1B ENST00000482423 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FRG1B HGNC ENSG00000149531 8 0 0.00 1 4 80.00 - - - FRY 0 genome.wustl.edu 37 13 32783135 32783135 + Silent SNP C C G TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 13 32783135 32783135 C G SNP FRY ENST00000380250 human ensembl 69_37n +1 known silent c.4164 p.V1388 0.712 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 103 0 0.00 65 16 19.75 - - - FTSJD2 0 genome.wustl.edu 37 6 37427448 37427448 + Silent SNP G G A TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 6 37427448 37427448 G A SNP FTSJD2 ENST00000373451 human ensembl 69_37n +1 known silent c.1083 p.L361 1.000 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom - no_errors FTSJD2 HGNC ENSG00000137200 634 0 0.00 404 128 24.06 - - - GNB3 0 genome.wustl.edu 37 12 6952645 6952645 + Missense_Mutation SNP G G A TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 12 6952645 6952645 G A SNP GNB3 ENST00000229264 human ensembl 69_37n +1 known missense c.386 p.R129H 0.996 superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB3 HGNC ENSG00000111664 115 0 0.00 78 11 12.36 - - - HCCS 0 genome.wustl.edu 37 X 11136711 11136711 + Silent SNP G G A TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 X 11136711 11136711 G A SNP HCCS ENST00000321143 human ensembl 69_37n +1 known silent c.492 p.E164 1.000 pfam_Cyt_C/C1_haem_lyase pfam_Cyt_C/C1_haem_lyase - no_errors HCCS HGNC ENSG00000004961 313 0 0.00 201 36 15.19 - - - HEATR3 0 genome.wustl.edu 37 16 50102690 50102690 + Splice_Site SNP G G T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 16 50102690 50102690 G T SNP HEATR3 ENST00000299192 human ensembl 69_37n +1 known splice_site c.312-1 e3-1 1.000 - - - no_errors HEATR3 HGNC ENSG00000155393 216 0 0.00 128 15 10.49 - - - HUWE1 0 genome.wustl.edu 37 X 53579640 53579640 + Frame_Shift_Del DEL C C - TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 X 53579640 53579640 C - DEL HUWE1 ENST00000262854 human ensembl 69_37n -1 known frame_shift_del c.8709 p.S2904fs 0.018 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 184 0 0.00 223 159 41.41 - - - HUWE1 0 genome.wustl.edu 37 X 53579644 53579645 + Frame_Shift_Del DEL CC CC - TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 X 53579644 53579645 CC - DEL HUWE1 ENST00000262854 human ensembl 69_37n -1 known frame_shift_del c.8705_8704 p.G2902fs 0.708:0.481 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 175 0 0.00 214 159 42.63 - - - HUWE1 0 genome.wustl.edu 37 X 53579648 53579649 + Frame_Shift_Ins INS - - C TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 X 53579648 53579649 - C INS HUWE1 ENST00000262854 human ensembl 69_37n -1 known frame_shift_ins c.8701_8700 p.Q2900fs 0.854:0.001 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 161 0 0.00 216 162 42.86 - - - INTS5 0 genome.wustl.edu 37 11 62414499 62414499 + Missense_Mutation SNP C C T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 11 62414499 62414499 C T SNP INTS5 ENST00000330574 human ensembl 69_37n -1 known missense c.3053 p.G1018E 1.000 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 85 0 0.00 18 9 33.33 - - - ITGA11 0 genome.wustl.edu 37 15 68654007 68654007 + Missense_Mutation SNP G G T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 15 68654007 68654007 G T SNP ITGA11 ENST00000315757 human ensembl 69_37n -1 known missense c.393 p.S131R 0.999 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 21 0 0.00 13 6 31.58 - - - KIF13B 0 genome.wustl.edu 37 8 29006116 29006117 + Frame_Shift_Ins INS - - C TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 8 29006116 29006117 - C INS KIF13B ENST00000524189 human ensembl 69_37n -1 known frame_shift_ins c.1791_1790 p.M598fs 1.000:1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 54 0 0.00 69 10 12.66 - - - KIF3C 0 genome.wustl.edu 37 2 26203790 26203791 + Frame_Shift_Ins INS - - C TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 2 26203790 26203791 - C INS KIF3C ENST00000264712 human ensembl 69_37n -1 known frame_shift_ins c.997_996 p.N332fs 0.997:0.009 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 30 0 0.00 18 2 10.00 - - - KIFAP3 0 genome.wustl.edu 37 1 170004659 170004659 + Missense_Mutation SNP C C T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 1 170004659 170004659 C T SNP KIFAP3 ENST00000361580 human ensembl 69_37n -1 known missense c.553 p.E185K 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 137 0 0.00 55 24 30.38 - - - MARCKS 0 genome.wustl.edu 37 6 114181729 114181730 + Frame_Shift_Ins INS - - C TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 6 114181729 114181730 - C INS MARCKS ENST00000368635 human ensembl 69_37n +1 known frame_shift_ins c.973_974 p.A328fs 1.000:0.999 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 32 0 0.00 14 2 12.50 - - - MED23 0 genome.wustl.edu 37 6 131911508 131911508 + Missense_Mutation SNP G G A TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 6 131911508 131911508 G A SNP MED23 ENST00000368058 human ensembl 69_37n -1 known missense c.3779 p.P1260L 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 134 0 0.00 36 13 26.53 - - - MED26 0 genome.wustl.edu 37 19 16687548 16687548 + Missense_Mutation SNP G G T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 19 16687548 16687548 G T SNP MED26 ENST00000263390 human ensembl 69_37n -1 known missense c.1093 p.P365T 0.097 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 10 0 0.00 7 16 69.57 - - - MEGF11 0 genome.wustl.edu 37 15 66273125 66273126 + Frame_Shift_Ins INS - - G TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 15 66273125 66273126 - G INS MEGF11 ENST00000409699 human ensembl 69_37n -1 known frame_shift_ins c.753_752 p.G252fs 0.995:1.000 pfam_EGF_extracell,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 12 0 0.00 4 3 42.86 - - - MEPCE 0 genome.wustl.edu 37 7 100029247 100029248 + Frame_Shift_Ins INS - - C TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 7 100029247 100029248 - C INS MEPCE ENST00000310512 human ensembl 69_37n +1 known frame_shift_ins c.1606_1607 p.Q538fs 1.000:1.000 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 11 0 0.00 4 2 33.33 - - - MUC16 0 genome.wustl.edu 37 19 8993436 8993436 + Missense_Mutation SNP G G T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 19 8993436 8993436 G T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.41653 p.L13885M 0.000 pfam_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 380 1 0.26 419 154 26.88 - - - OR2A1 0 genome.wustl.edu 37 7 144015841 144015841 + Silent SNP G G A TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 7 144015841 144015841 G A SNP OR2A1 ENST00000408951 human ensembl 69_37n +1 known silent c.624 p.G208 0.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2A1 HGNC ENSG00000221970 14 0 0.00 13 5 27.78 - - - PCDH9 0 genome.wustl.edu 37 13 67802470 67802470 + Missense_Mutation SNP G G C TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 13 67802470 67802470 G C SNP PCDH9 ENST00000377865 human ensembl 69_37n -1 known missense c.103 p.P35A 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 118 0 0.00 81 18 18.18 - - - PCDHGB3 0 genome.wustl.edu 37 5 140750139 140750139 + Missense_Mutation SNP G G T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 5 140750139 140750139 G T SNP PCDHGB3 ENST00000576222 human ensembl 69_37n +1 known missense c.178 p.D60Y 0.007 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 104 0 0.00 44 9 16.98 - - - PREB 0 genome.wustl.edu 37 2 27356186 27356186 + Frame_Shift_Del DEL A A - TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 2 27356186 27356186 A - DEL PREB ENST00000260643 human ensembl 69_37n -1 known frame_shift_del c.345 p.R116fs 0.918 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PREB HGNC ENSG00000138073 87 0 0.00 58 36 37.11 - - - RAB15 0 genome.wustl.edu 37 14 65417692 65417695 + Frame_Shift_Del DEL AAAG AAAG - TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 AAAG AAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 14 65417692 65417695 AAAG - DEL RAB15 ENST00000267512 human ensembl 69_37n -1 known frame_shift_del c.424_421 p.L141fs 0.000:0.001:0.000:0.000 smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB15 HGNC ENSG00000139998 21 0 0.00 28 13 30.95 - - - RIMBP3 0 genome.wustl.edu 37 22 20457060 20457060 + Silent SNP C C G TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 22 20457060 20457060 C G SNP RIMBP3 ENST00000426804 human ensembl 69_37n -1 known silent c.4242 p.V1414 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 8 0 0.00 2 7 77.78 - - - SLC7A14 0 genome.wustl.edu 37 3 170201117 170201117 + Silent SNP G G A TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 3 170201117 170201117 G A SNP SLC7A14 ENST00000231706 human ensembl 69_37n -1 known silent c.1101 p.D367 1.000 pfam_AA-permease_dom pfam_AA-permease_dom - no_errors SLC7A14 HGNC ENSG00000013293 91 0 0.00 121 25 17.01 - - - SON 0 genome.wustl.edu 37 21 34925625 34925627 + In_Frame_Del DEL CGG CGG - TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 CGG CGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 21 34925625 34925627 CGG - DEL SON ENST00000356577 human ensembl 69_37n +1 known in_frame_del c.4088_4090 p.A1364in_frame_del 0.001:0.000:0.002 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC ENSG00000159140 33 0 0.00 28 28 50.00 - - - SPATC1 0 genome.wustl.edu 37 8 145095485 145095486 + Frame_Shift_Ins INS - - C TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 8 145095485 145095486 - C INS SPATC1 ENST00000377470 human ensembl 69_37n +1 known frame_shift_ins c.783_784 p.Q263fs 0.013:0.003 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 17 0 0.00 19 3 13.64 - - - SPTBN4 0 genome.wustl.edu 37 19 41021284 41021284 + Silent SNP C C T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 19 41021284 41021284 C T SNP SPTBN4 ENST00000352632 human ensembl 69_37n +1 known silent c.2832 p.V944 0.815 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,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 SPTBN4 HGNC ENSG00000160460 19 0 0.00 10 7 41.18 - - - SSRP1 0 genome.wustl.edu 37 11 57099870 57099870 + Missense_Mutation SNP G G T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 11 57099870 57099870 G T SNP SSRP1 ENST00000278412 human ensembl 69_37n -1 known missense c.859 p.L287M 1.000 pfam_SSRP1_dom pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 55 0 0.00 236 34 12.59 - - - TMEM151A 0 genome.wustl.edu 37 11 66061808 66061809 + Frame_Shift_Ins INS - - TG TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 11 66061808 66061809 - TG INS TMEM151A ENST00000327259 human ensembl 69_37n +1 known frame_shift_ins c.91_92 p.Q31fs 1.000:1.000 NULL NULL - no_errors TMEM151A HGNC ENSG00000179292 15 0 0.00 13 5 27.78 - - - TMEM71 0 genome.wustl.edu 37 8 133764157 133764157 + Missense_Mutation SNP C C T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 8 133764157 133764157 C T SNP TMEM71 ENST00000356838 human ensembl 69_37n -1 known missense c.188 p.R63Q 1.000 NULL NULL - no_errors TMEM71 HGNC ENSG00000165071 248 0 0.00 269 111 28.98 - - - UBAP1 0 genome.wustl.edu 37 9 34251528 34251529 + In_Frame_Ins INS - - CTA TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 9 34251528 34251529 - CTA INS UBAP1 ENST00000545103 human ensembl 69_37n +1 known in_frame_ins c.1699_1700 p.*567in_frame_insSR 1.000:1.000 NULL superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC ENSG00000165006 12 0 0.00 15 10 40.00 - - - UMODL1 0 genome.wustl.edu 37 21 43505492 43505492 + Missense_Mutation SNP C C T TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 21 43505492 43505492 C T SNP UMODL1 ENST00000400421 human ensembl 69_37n +1 known missense c.80 p.S27F 0.752 NULL pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UMODL1 HGNC ENSG00000177398 126 0 0.00 64 16 20.00 - - - WDTC1 0 genome.wustl.edu 37 1 27621107 27621108 + Frame_Shift_Ins INS - - G TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8eac36c-c3a7-4c88-b928-832ab279045b 2dae6992-3060-4e22-9383-698c791cd3b1 1 27621107 27621108 - G INS WDTC1 ENST00000319394 human ensembl 69_37n +1 known frame_shift_ins c.860_861 p.E290fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 35 0 0.00 38 5 11.63 - - -