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 AHCTF1 0 genome.wustl.edu 37 1 247027259 247027259 + Silent SNP T T C TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 1 247027259 247027259 T C SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known silent c.3534 p.E1178 0.981 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 53 0 0.00 17 14 45.16 - - - BOD1L1 0 genome.wustl.edu 37 4 13604573 13604573 + Silent SNP G G T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 4 13604573 13604573 G T SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known silent c.3951 p.T1317 0.011 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 46 0 0.00 16 35 68.63 - - - C14orf102 0 genome.wustl.edu 37 14 90764685 90764685 + Missense_Mutation SNP G G A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 14 90764685 90764685 G A SNP C14orf102 ENST00000354366 human ensembl 69_37n -1 known missense c.1585 p.R529W 1.000 pfam_NRDE-2 pfam_NRDE-2 - no_errors C14orf102 HGNC ENSG00000119720 42 0 0.00 9 8 47.06 - - - COL27A1 0 genome.wustl.edu 37 9 116930643 116930643 + Missense_Mutation SNP G G A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 9 116930643 116930643 G A SNP COL27A1 ENST00000356083 human ensembl 69_37n +1 known missense c.808 p.E270K 0.679 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 45 0 0.00 20 3 13.04 - - - CS 0 genome.wustl.edu 37 12 56676232 56676232 + Missense_Mutation SNP T T C TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 12 56676232 56676232 T C SNP CS ENST00000351328 human ensembl 69_37n -1 known missense c.560 p.Q187R 1.000 pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,tigrfam_Citrate_synthase_euk pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,prints_Citrate_synthase-like,tigrfam_Citrate_synthase_euk - no_errors CS HGNC ENSG00000062485 110 1 0.90 45 5 10.00 - - - CS 0 genome.wustl.edu 37 12 56676244 56676244 + Missense_Mutation SNP C C T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 12 56676244 56676244 C T SNP CS ENST00000351328 human ensembl 69_37n -1 known missense c.548 p.R183Q 1.000 pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,tigrfam_Citrate_synthase_euk pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,prints_Citrate_synthase-like,tigrfam_Citrate_synthase_euk - no_errors CS HGNC ENSG00000062485 104 1 0.95 40 6 13.04 - - - CTBP1-AS1 0 genome.wustl.edu 37 4 1245889 1245889 + RNA SNP C C A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 4 1245889 1245889 C A SNP CTBP1-AS1 ENST00000581398 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors CTBP1-AS1 HGNC ENSG00000196810 24 0 0.00 12 12 50.00 - - - DST 0 genome.wustl.edu 37 6 56323823 56323823 + Missense_Mutation SNP C C G TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 6 56323823 56323823 C G SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.23233 p.D7745H 1.000 NULL pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 90 0 0.00 39 22 36.07 - - - DST 0 genome.wustl.edu 37 6 56323940 56323940 + Missense_Mutation SNP C C T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 6 56323940 56323940 C T SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.23116 p.D7706N 1.000 NULL pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 39 0 0.00 23 20 46.51 - - - DST 0 genome.wustl.edu 37 6 56324027 56324027 + Nonsense_Mutation SNP C C A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 6 56324027 56324027 C A SNP DST ENST00000370754 human ensembl 69_37n -1 known nonsense c.23029 p.G7677* 1.000 NULL pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 40 0 0.00 9 8 47.06 - - - FAM123C 0 genome.wustl.edu 37 2 131521307 131521308 + Frame_Shift_Ins INS - - G TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 2 131521307 131521308 - G INS FAM123C ENST00000321420 human ensembl 69_37n +1 known frame_shift_ins c.1662_1663 p.A556fs 0.000:0.000 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123C HGNC ENSG00000178171 14 0 0.00 10 4 28.57 - - - FCGBP 0 genome.wustl.edu 37 19 40433370 40433370 + Missense_Mutation SNP C C A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 19 40433370 40433370 C A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known missense c.899 p.R300L 0.023 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 36 0 0.00 13 5 27.78 - - - GATA3 0 genome.wustl.edu 37 10 8115861 8115862 + Frame_Shift_Ins INS - - T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 10 8115861 8115862 - T INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1210_1211 p.S405fs 0.998:1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 52 0 0.00 10 4 28.57 - - - GFPT2 0 genome.wustl.edu 37 5 179740926 179740927 + Frame_Shift_Ins INS - - A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 5 179740926 179740927 - A INS GFPT2 ENST00000253778 human ensembl 69_37n -1 known frame_shift_ins c.1312_1311 p.K437fs 1.000:0.889 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 51 0 0.00 20 10 33.33 - - - HDAC5 0 genome.wustl.edu 37 17 42161001 42161001 + Nonsense_Mutation SNP C C T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 17 42161001 42161001 C T SNP HDAC5 ENST00000225983 human ensembl 69_37n -1 known nonsense c.2378 p.W793* 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 44 0 0.00 17 17 50.00 - - - HRNR 0 genome.wustl.edu 37 1 152186614 152186614 + Silent SNP C C G TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 1 152186614 152186614 C G SNP HRNR ENST00000368801 human ensembl 69_37n -1 known silent c.7491 p.S2497 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 37 0 0.00 32 5 13.51 - - - HTRA3 0 genome.wustl.edu 37 4 8305971 8305971 + Nonsense_Mutation SNP T T A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 4 8305971 8305971 T A SNP HTRA3 ENST00000307358 human ensembl 69_37n +1 known nonsense c.1161 p.Y387* 0.454 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Peptidase_S1_S6,pfam_Kazal-type_dom,pfam_PDZ,pfam_Prot_inh_Kazal,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,prints_Peptidase_S1C,pfscan_PDZ - no_errors HTRA3 HGNC ENSG00000170801 99 0 0.00 28 22 44.00 - - - ITCH 0 genome.wustl.edu 37 20 33077728 33077728 + Missense_Mutation SNP G G T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 20 33077728 33077728 G T SNP ITCH ENST00000262650 human ensembl 69_37n +1 known missense c.2439 p.W813C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors ITCH HGNC ENSG00000078747 57 0 0.00 19 8 29.63 - - - JRK 0 genome.wustl.edu 37 8 143745924 143745924 + RNA SNP G G A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 8 143745924 143745924 G A SNP JRK ENST00000422119 human ensembl 69_37n -1 known rna NULL NULL 0.065 - - - no_errors JRK HGNC ENSG00000234616 35 0 0.00 11 6 35.29 - - - KDM2A 0 genome.wustl.edu 37 11 67012699 67012699 + Missense_Mutation SNP A A G TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 11 67012699 67012699 A G SNP KDM2A ENST00000529006 human ensembl 69_37n +1 known missense c.1603 p.I535V 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 70 0 0.00 19 19 50.00 - - - KIAA0430 0 genome.wustl.edu 37 16 15725261 15725261 + Missense_Mutation SNP G G T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 16 15725261 15725261 G T SNP KIAA0430 ENST00000396368 human ensembl 69_37n -1 known missense c.1328 p.P443Q 1.000 pfam_NYN_limkain-b1 pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 47 0 0.00 35 4 10.26 - - - KIAA0895 0 genome.wustl.edu 37 7 36423487 36423487 + Missense_Mutation SNP T T A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 7 36423487 36423487 T A SNP KIAA0895 ENST00000297063 human ensembl 69_37n -1 known missense c.159 p.K53N 0.338 NULL pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 51 0 0.00 16 3 15.79 - - - KRT86 0 genome.wustl.edu 37 12 52695896 52695896 + Missense_Mutation SNP C C T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 12 52695896 52695896 C T SNP KRT86 ENST00000293525 human ensembl 69_37n +1 known missense c.196 p.R66C 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors AC021066.1 Clone_based_ensembl_gene ENSG00000170442 14 0 0.00 7 5 41.67 - - - LINC00618 0 genome.wustl.edu 37 14 97411646 97411646 + RNA SNP C C T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 14 97411646 97411646 C T SNP LINC00618 ENST00000435624 human ensembl 69_37n +1 known rna NULL NULL 0.011 - - - no_errors LINC00618 HGNC ENSG00000225163 33 0 0.00 19 17 47.22 - - - MLL5 0 genome.wustl.edu 37 7 104703871 104703871 + Missense_Mutation SNP A A G TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 7 104703871 104703871 A G SNP MLL5 ENST00000257745 human ensembl 69_37n +1 known missense c.260 p.N87S 1.000 superfamily_Znf_FYVE_PHD pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC ENSG00000005483 46 0 0.00 25 14 35.00 - - - MUC5B 0 genome.wustl.edu 37 11 1263006 1263006 + Missense_Mutation SNP G G C TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 11 1263006 1263006 G C SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.4905 p.Q1635H 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 23 0 0.00 2 7 77.78 - - - NOTCH1 0 genome.wustl.edu 37 9 139400222 139400222 + Missense_Mutation SNP C C T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 9 139400222 139400222 C T SNP NOTCH1 ENST00000277541 human ensembl 69_37n -1 known missense c.4126 p.G1376S 0.674 pirsf_Notch,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_1,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 39 0 0.00 25 22 46.81 - - - NRIP1 0 genome.wustl.edu 37 21 16340003 16340004 + Frame_Shift_Ins INS - - TT TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 21 16340003 16340004 - TT INS NRIP1 ENST00000318948 human ensembl 69_37n -1 known frame_shift_ins c.511_510 p.V170fs 1.000:0.999 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 61 0 0.00 24 10 29.41 - - - PIGA 0 genome.wustl.edu 37 X 15342880 15342880 + Missense_Mutation SNP T T A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 X 15342880 15342880 T A SNP PIGA ENST00000333590 human ensembl 69_37n -1 known missense c.1095 p.Q365H 0.089 NULL pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 47 0 0.00 11 3 20.00 - - - PPP1R37 0 genome.wustl.edu 37 19 45649032 45649032 + Missense_Mutation SNP G G A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 19 45649032 45649032 G A SNP PPP1R37 ENST00000221462 human ensembl 69_37n +1 known missense c.1718 p.R573Q 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC ENSG00000104866 24 0 0.00 10 4 26.67 - - - PRICKLE2 0 genome.wustl.edu 37 3 64084954 64084954 + Missense_Mutation SNP C C T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 3 64084954 64084954 C T SNP PRICKLE2 ENST00000295902 human ensembl 69_37n -1 known missense c.2308 p.A770T 0.186 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 30 0 0.00 20 13 39.39 - - - PTP4A2 0 genome.wustl.edu 37 1 32384789 32384792 + RNA DEL ATCA ATCA - TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 ATCA ATCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 1 32384789 32384792 ATCA - DEL PTP4A2 ENST00000526960 human ensembl 69_37n -1 putative rna NULL NULL 0.940:0.897:0.372:0.298 - - - no_errors PTP4A2 HGNC ENSG00000184007 13 0 0.00 7 7 50.00 - - - RALYL 0 genome.wustl.edu 37 8 85785620 85785620 + Frame_Shift_Del DEL A A - TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 8 85785620 85785620 A - DEL RALYL ENST00000521268 human ensembl 69_37n +1 known frame_shift_del c.673 p.K225fs 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 28 0 0.00 9 2 18.18 - - - SLC16A5 0 genome.wustl.edu 37 17 73100170 73100172 + In_Frame_Del DEL AGA AGA - TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 17 73100170 73100172 AGA - DEL SLC16A5 ENST00000329783 human ensembl 69_37n +1 known in_frame_del c.1259_1261 p.K422in_frame_del 0.922:0.979:0.996 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 45 0 0.00 12 29 69.05 - - - SLCO1B3 0 genome.wustl.edu 37 12 21220258 21220258 + Frame_Shift_Del DEL T T - TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 12 21220258 21220258 T - DEL SLCO1B3 ENST00000553473 human ensembl 69_37n +1 known frame_shift_del c.1871 p.Q625fs 0.184 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 51 0 0.00 16 2 11.11 - - - SLTM 0 genome.wustl.edu 37 15 59179738 59179738 + Missense_Mutation SNP G G A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 15 59179738 59179738 G A SNP SLTM ENST00000380516 human ensembl 69_37n -1 known missense c.2377 p.R793W 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 65 0 0.00 43 14 24.56 - - - WDR13 0 genome.wustl.edu 37 X 48458086 48458086 + Silent SNP C C T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 X 48458086 48458086 C T SNP WDR13 ENST00000218056 human ensembl 69_37n +1 known silent c.504 p.D168 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 32 0 0.00 3 10 76.92 - - - ZNF385D 0 genome.wustl.edu 37 3 21478513 21478513 + Silent SNP G G A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 3 21478513 21478513 G A SNP ZNF385D ENST00000281523 human ensembl 69_37n -1 known silent c.622 p.L208 0.954 smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 181 0 0.00 69 62 47.33 - - - ZNF518B 0 genome.wustl.edu 37 4 10445820 10445820 + Silent SNP G G A TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 4 10445820 10445820 G A SNP ZNF518B ENST00000326756 human ensembl 69_37n -1 known silent c.2133 p.N711 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 35 0 0.00 12 14 53.85 - - - ZNF707 0 genome.wustl.edu 37 8 144773090 144773090 + RNA SNP C C T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dc23e9b3-7347-405e-8a21-72955541757e ff54d8e4-64f8-48eb-8b2e-314142645eb6 8 144773090 144773090 C T SNP ZNF707 ENST00000530341 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors ZNF707 HGNC ENSG00000181135 15 0 0.00 8 11 57.89 - - -