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 ABCC6 0 genome.wustl.edu 37 16 16315440 16315440 + Missense_Mutation SNP G G C TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 16 16315440 16315440 G C SNP ABCC6 ENST00000575728 human ensembl 69_37n -1 putative missense c.285 p.N95K 0.005 NULL NULL - no_errors ABCC6 HGNC ENSG00000091262 77 0 0.00 11 4 26.67 - - - ACSF2 0 genome.wustl.edu 37 17 48548486 48548487 + Frame_Shift_Del DEL CT CT - TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 17 48548486 48548487 CT - DEL ACSF2 ENST00000300441 human ensembl 69_37n +1 known frame_shift_del c.1313_1314 p.T440fs 0.987:0.969 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 75 0 0.00 14 2 12.50 - - - ACTL6B 0 genome.wustl.edu 37 7 100246265 100246265 + Frame_Shift_Del DEL C C - TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 7 100246265 100246265 C - DEL ACTL6B ENST00000160382 human ensembl 69_37n -1 known frame_shift_del c.583 p.A195fs 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6B HGNC ENSG00000077080 98 0 0.00 9 2 18.18 - - - ARHGAP5 0 genome.wustl.edu 37 14 32560757 32560757 + Missense_Mutation SNP T T A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 14 32560757 32560757 T A SNP ARHGAP5 ENST00000345122 human ensembl 69_37n +1 known missense c.882 p.S294R 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 62 0 0.00 63 21 25.00 - - - BMX 0 genome.wustl.edu 37 X 15568080 15568080 + Missense_Mutation SNP C C T TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 X 15568080 15568080 C T SNP BMX ENST00000342014 human ensembl 69_37n +1 known missense c.1913 p.S638L 0.055 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom - no_errors BMX HGNC ENSG00000102010 163 0 0.00 29 6 17.14 - - - C20orf26 0 genome.wustl.edu 37 20 20269354 20269354 + Missense_Mutation SNP C C A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 20 20269354 20269354 C A SNP C20orf26 ENST00000245957 human ensembl 69_37n +1 known missense c.2898 p.N966K 0.030 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 70 0 0.00 37 16 30.19 - - - C4orf21 0 genome.wustl.edu 37 4 113539671 113539671 + Missense_Mutation SNP A A T TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 4 113539671 113539671 A T SNP C4orf21 ENST00000505019 human ensembl 69_37n -1 known missense c.1527 p.D509E 0.000 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 101 0 0.00 89 54 37.76 - - - CACNA1E 0 genome.wustl.edu 37 1 181688931 181688931 + Missense_Mutation SNP A A C TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 1 181688931 181688931 A C SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.1683 p.R561S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 191 0 0.00 107 13 10.83 - - - CD248 0 genome.wustl.edu 37 11 66082629 66082629 + Nonsense_Mutation SNP G G A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 11 66082629 66082629 G A SNP CD248 ENST00000311330 human ensembl 69_37n -1 known nonsense c.1870 p.Q624* 0.405 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 105 0 0.00 10 11 52.38 - - - CD3E 0 genome.wustl.edu 37 11 118185202 118185202 + Missense_Mutation SNP A A G TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 11 118185202 118185202 A G SNP CD3E ENST00000361763 human ensembl 69_37n +1 known missense c.560 p.D187G 1.000 pfam_Phos_immunorcpt_sig_ITAM,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3E HGNC ENSG00000198851 62 0 0.00 7 11 61.11 - - - CLASP1 0 genome.wustl.edu 37 2 122106150 122106152 + In_Frame_Del DEL CGA CGA - TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 CGA CGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 2 122106150 122106152 CGA - DEL CLASP1 ENST00000263710 human ensembl 69_37n -1 known in_frame_del c.4351_4349 p.V1450in_frame_del 1.000:0.564:0.985 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 111 0 0.00 16 2 11.11 - - - CNBD1 0 genome.wustl.edu 37 8 88249321 88249321 + Missense_Mutation SNP T T A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 8 88249321 88249321 T A SNP CNBD1 ENST00000518476 human ensembl 69_37n +1 known missense c.752 p.L251Q 0.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 88 0 0.00 46 74 61.16 - - - CNNM2 0 genome.wustl.edu 37 10 104816543 104816543 + Missense_Mutation SNP T T C TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 10 104816543 104816543 T C SNP CNNM2 ENST00000457502 human ensembl 69_37n +1 known missense c.1898 p.I633T 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 72 0 0.00 29 27 48.21 - - - COG5 0 genome.wustl.edu 37 7 106877126 106877126 + Missense_Mutation SNP T T A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 7 106877126 106877126 T A SNP COG5 ENST00000297135 human ensembl 69_37n -1 known missense c.1953 p.L651F 0.001 NULL pfam_COG_su5,pfam_Vps51 - no_errors COG5 HGNC ENSG00000164597 89 0 0.00 48 12 20.00 - - - CSNK1E 0 genome.wustl.edu 37 22 38694855 38694855 + Missense_Mutation SNP C C T TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 22 38694855 38694855 C T SNP CSNK1E ENST00000359867 human ensembl 69_37n -1 known missense c.821 p.R274H 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1E HGNC ENSG00000213923 124 1 0.79 17 10 37.04 - - - DNAH17 0 genome.wustl.edu 37 17 76490785 76490785 + Missense_Mutation SNP A A C TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 17 76490785 76490785 A C SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.6118 p.F2040V 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 60 0 0.00 2 4 66.67 - - - EIF4ENIF1 0 genome.wustl.edu 37 22 31867874 31867874 + Silent SNP G G C TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 22 31867874 31867874 G C SNP EIF4ENIF1 ENST00000330125 human ensembl 69_37n -1 known silent c.126 p.P42 0.985 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 134 0 0.00 189 62 24.70 - - - FABP6 0 genome.wustl.edu 37 5 159656619 159656619 + Missense_Mutation SNP A A C TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 5 159656619 159656619 A C SNP FABP6 ENST00000393980 human ensembl 69_37n +1 known missense c.202 p.M68L 0.999 superfamily_Calycin-like,prints_Fatty_acid-bd superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP6 HGNC ENSG00000170231 106 0 0.00 40 9 18.37 - - - HIRA 0 genome.wustl.edu 37 22 19349295 19349295 + Silent SNP C C T TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 22 19349295 19349295 C T SNP HIRA ENST00000263208 human ensembl 69_37n -1 known silent c.1935 p.R645 0.951 NULL pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 170 0 0.00 29 13 30.95 - - - HLTF 0 genome.wustl.edu 37 3 148793804 148793806 + In_Frame_Del DEL GTT GTT - TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 3 148793804 148793806 GTT - DEL HLTF ENST00000310053 human ensembl 69_37n -1 known in_frame_del c.259_257 p.Q86in_frame_del 1.000:1.000:1.000 pfam_HIP116_Rad5p_N,smart_HIP116_Rad5p_N pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC ENSG00000071794 108 0 0.00 255 108 29.43 - - - IGSF5 0 genome.wustl.edu 37 21 41137704 41137704 + Frame_Shift_Del DEL C C - TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 21 41137704 41137704 C - DEL IGSF5 ENST00000380588 human ensembl 69_37n +1 novel frame_shift_del c.343 p.S116fs 0.002 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors IGSF5 HGNC ENSG00000183067 114 0 0.00 15 2 11.76 - - - MORC2 0 genome.wustl.edu 37 22 31336819 31336819 + Missense_Mutation SNP T T C TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 22 31336819 31336819 T C SNP MORC2 ENST00000397641 human ensembl 69_37n -1 known missense c.830 p.Y277C 1.000 superfamily_ATPase-like_ATP-bd pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC ENSG00000133422 89 0 0.00 33 8 19.51 - - - MTR 0 genome.wustl.edu 37 1 237023140 237023140 + Missense_Mutation SNP G G C TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 1 237023140 237023140 G C SNP MTR ENST00000366577 human ensembl 69_37n +1 known missense c.1961 p.G654A 0.831 pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 111 0 0.00 95 29 23.39 - - - MUC17 0 genome.wustl.edu 37 7 100686212 100686212 + Missense_Mutation SNP C C T TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 7 100686212 100686212 C T SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.11515 p.P3839S 0.029 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 94 0 0.00 45 17 27.42 - - - PALM2 0 genome.wustl.edu 37 9 112705127 112705127 + Missense_Mutation SNP G G A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 9 112705127 112705127 G A SNP PALM2 ENST00000448454 human ensembl 69_37n +1 known missense c.664 p.V222I 0.289 pfam_Paralemmin pfam_Paralemmin - no_errors PALM2 HGNC ENSG00000243444 78 0 0.00 54 19 26.03 - - - PATE4 0 genome.wustl.edu 37 11 125708299 125708299 + Missense_Mutation SNP A A G TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 11 125708299 125708299 A G SNP PATE4 ENST00000457514 human ensembl 69_37n +1 known missense c.274 p.R92G 0.040 NULL NULL - no_errors PATE4 HGNC ENSG00000237353 113 0 0.00 27 22 44.90 - - - PCDHA10 0 genome.wustl.edu 37 5 140235801 140235801 + Silent SNP G G A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 5 140235801 140235801 G A SNP PCDHA10 ENST00000307360 human ensembl 69_37n +1 known silent c.168 p.A56 0.000 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 PCDHA10 HGNC ENSG00000250120 79 0 0.00 7 10 58.82 - - - PMEL 0 genome.wustl.edu 37 12 56349080 56349080 + Frame_Shift_Del DEL C C - TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 12 56349080 56349080 C - DEL PMEL ENST00000360714 human ensembl 69_37n -1 known frame_shift_del c.1849 p.V617fs 0.972 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC ENSG00000185664 95 0 0.00 15 2 11.76 - - - POLQ 0 genome.wustl.edu 37 3 121158894 121158894 + Missense_Mutation SNP C C A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 3 121158894 121158894 C A SNP POLQ ENST00000264233 human ensembl 69_37n -1 known missense c.7334 p.G2445V 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 216 0 0.00 193 82 29.71 - - - ROBO2 0 genome.wustl.edu 37 3 77612343 77612343 + Silent SNP C C T TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 3 77612343 77612343 C T SNP ROBO2 ENST00000461745 human ensembl 69_37n +1 known silent c.1545 p.N515 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 72 0 0.00 45 25 35.71 - - - SAGE1 0 genome.wustl.edu 37 X 134986704 134986704 + Silent SNP T T C TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 X 134986704 134986704 T C SNP SAGE1 ENST00000324447 human ensembl 69_37n +1 known silent c.289 p.L97 0.023 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 121 0 0.00 45 20 30.77 - - - SLC25A13 0 genome.wustl.edu 37 7 95751180 95751180 + Frame_Shift_Del DEL C C - TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 7 95751180 95751180 C - DEL SLC25A13 ENST00000416240 human ensembl 69_37n -1 known frame_shift_del c.1724 p.G575fs 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A13 HGNC ENSG00000004864 122 0 0.00 93 32 25.40 - - - SPICE1 0 genome.wustl.edu 37 3 113166914 113166914 + Missense_Mutation SNP G G T TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 3 113166914 113166914 G T SNP SPICE1 ENST00000467618 human ensembl 69_37n -1 putative missense c.398 p.S133Y 0.995 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SPICE1 HGNC ENSG00000163611 271 0 0.00 204 47 18.73 - - - TACC2 0 genome.wustl.edu 37 10 123988915 123988915 + Missense_Mutation SNP C C T TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 10 123988915 123988915 C T SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known missense c.7951 p.H2651Y 0.852 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 146 0 0.00 23 19 45.24 - - - TEX14 0 genome.wustl.edu 37 17 56679891 56679891 + Missense_Mutation SNP T T A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 17 56679891 56679891 T A SNP TEX14 ENST00000240361 human ensembl 69_37n -1 known missense c.1415 p.N472I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC ENSG00000121101 95 0 0.00 44 30 40.54 - - - THOC3 0 genome.wustl.edu 37 5 175388335 175388335 + Missense_Mutation SNP T T C TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 5 175388335 175388335 T C SNP THOC3 ENST00000505969 human ensembl 69_37n -1 putative missense c.82 p.R28G 0.366 pfam_WD40_repeat,superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region THOC3 HGNC ENSG00000051596 8 0 0.00 0 3 100.00 - - - TP53 0 genome.wustl.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 17 7578263 7578263 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.586 p.R196* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 142 0 0.00 37 28 43.08 - - - TSC22D3 0 genome.wustl.edu 37 X 106959960 106959960 + Silent SNP G G A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 X 106959960 106959960 G A SNP TSC22D3 ENST00000372397 human ensembl 69_37n -1 known silent c.82 p.L28 0.999 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 108 0 0.00 31 19 38.00 - - - TTC4 0 genome.wustl.edu 37 1 55188450 55188450 + Missense_Mutation SNP G G C TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 1 55188450 55188450 G C SNP TTC4 ENST00000371281 human ensembl 69_37n +1 known missense c.572 p.R191T 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC4 HGNC ENSG00000243725 94 0 0.00 52 8 13.33 - - - UNC5D 0 genome.wustl.edu 37 8 35608151 35608151 + Missense_Mutation SNP C C A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 8 35608151 35608151 C A SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known missense c.1987 p.P663T 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 168 0 0.00 49 31 38.75 - - - UTRN 0 genome.wustl.edu 37 6 144768443 144768443 + Nonsense_Mutation SNP C C T TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 6 144768443 144768443 C T SNP UTRN ENST00000367545 human ensembl 69_37n +1 known nonsense c.1711 p.R571* 0.999 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 207 0 0.00 78 71 47.65 - - - VPS11 0 genome.wustl.edu 37 11 118948934 118948934 + RNA DEL A A - TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 11 118948934 118948934 A - DEL VPS11 ENST00000300793 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors VPS11 HGNC ENSG00000160695 111 0 0.00 12 2 14.29 - - - ZNF781 0 genome.wustl.edu 37 19 38160608 38160608 + Nonsense_Mutation SNP G G A TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 251371ac-ef46-4e11-b45e-a2aaa986a2d2 5a22cccd-1c8a-425c-bc7c-3043bf4d8d15 19 38160608 38160608 G A SNP ZNF781 ENST00000358582 human ensembl 69_37n -1 known nonsense c.442 p.Q148* 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF781 HGNC ENSG00000196381 124 0 0.00 166 68 28.94 - - -