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 ADAM21 0 genome.wustl.edu 37 14 70924294 70924294 + Silent SNP C C T TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 14 70924294 70924294 C T SNP ADAM21 ENST00000267499 human ensembl 69_37n +1 known silent c.78 p.S26 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 138 0 0.00 244 38 13.48 - - - AKAP14 0 genome.wustl.edu 37 X 119037537 119037537 + Silent SNP C C T TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 X 119037537 119037537 C T SNP AKAP14 ENST00000371431 human ensembl 69_37n +1 known silent c.249 p.D83 0.000 NULL NULL - no_errors AKAP14 HGNC ENSG00000186471 36 0 0.00 82 23 21.90 - - - ANKRD36BP2 0 genome.wustl.edu 37 2 89100821 89100824 + Splice_Site DEL AAGT AAGT - TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 2 89100821 89100824 AAGT - DEL ANKRD36BP2 ENST00000393515 human ensembl 69_37n +1 known splice_site_del c.NULL NULL 0.865:0.869:0.868:0.860 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 26 0 0.00 41 6 12.77 - - - CORIN 0 genome.wustl.edu 37 4 47839941 47839941 + Missense_Mutation SNP G G A TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 4 47839941 47839941 G A SNP CORIN ENST00000273857 human ensembl 69_37n -1 known missense c.26 p.P9L 0.004 pirsf_Peptidase_S1A_corin pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC ENSG00000145244 56 0 0.00 48 22 31.43 - - - CREB5 0 genome.wustl.edu 37 7 28848830 28848830 + Silent SNP G G A TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 7 28848830 28848830 G A SNP CREB5 ENST00000357727 human ensembl 69_37n +1 known silent c.1053 p.Q351 1.000 pirsf_TF_cAMP-dep pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 55 0 0.00 66 10 13.16 - - - DCLRE1C 0 genome.wustl.edu 37 10 14961809 14961809 + Missense_Mutation SNP A A G TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 10 14961809 14961809 A G SNP DCLRE1C ENST00000378278 human ensembl 69_37n -1 known missense c.1084 p.S362P 0.915 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 99 0 0.00 121 27 18.24 - - - DDB1 0 genome.wustl.edu 37 11 61093159 61093160 + Frame_Shift_Ins INS - - C TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 11 61093159 61093160 - C INS DDB1 ENST00000301764 human ensembl 69_37n -1 known frame_shift_ins c.686_685 p.A229fs 1.000:1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 14 0 0.00 34 5 12.82 - - - DNAH1 0 genome.wustl.edu 37 3 52417430 52417430 + Missense_Mutation SNP T T A TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 3 52417430 52417430 T A SNP DNAH1 ENST00000420323 human ensembl 69_37n +1 known missense c.7970 p.I2657N 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 18 0 0.00 13 19 59.38 - - - EHMT2 0 genome.wustl.edu 37 6 31864886 31864887 + Frame_Shift_Ins INS - - C TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 6 31864886 31864887 - C INS EHMT2 ENST00000395728 human ensembl 69_37n -1 known frame_shift_ins c.94_93 p.P31fs 0.000:0.001 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 13 0 0.00 17 4 19.05 - - - ELAVL3 0 genome.wustl.edu 37 19 11577604 11577605 + Frame_Shift_Ins INS - - C TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 19 11577604 11577605 - C INS ELAVL3 ENST00000359227 human ensembl 69_37n -1 known frame_shift_ins c.48_47 p.A18fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 8 0 0.00 33 11 25.00 - - - ESR1 0 genome.wustl.edu 37 6 152201810 152201810 + Missense_Mutation SNP C C T TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 6 152201810 152201810 C T SNP ESR1 ENST00000206249 human ensembl 69_37n +1 known missense c.664 p.P222S 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 68 0 0.00 83 44 34.65 - - - GGPS1 0 genome.wustl.edu 37 1 235505826 235505826 + Silent SNP A A G TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 1 235505826 235505826 A G SNP GGPS1 ENST00000282841 human ensembl 69_37n +1 known silent c.642 p.S214 0.976 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors GGPS1 HGNC ENSG00000152904 106 0 0.00 358 46 11.39 - - - HIST1H2BB 0 genome.wustl.edu 37 6 26043672 26043672 + Missense_Mutation SNP C C T TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 6 26043672 26043672 C T SNP HIST1H2BB ENST00000357905 human ensembl 69_37n -1 known missense c.214 p.E72K 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BB HGNC ENSG00000196226 83 0 0.00 80 47 37.01 - - - HNF4A 0 genome.wustl.edu 37 20 43031282 43031282 + Silent SNP G G A TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 20 43031282 43031282 G A SNP HNF4A ENST00000372920 human ensembl 69_37n +1 known silent c.204 p.G68 0.000 NULL NULL - no_errors HNF4A HGNC ENSG00000101076 11 0 0.00 17 9 34.62 - - - HOXB3 0 genome.wustl.edu 37 17 46629736 46629737 + Frame_Shift_Ins INS - - G TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 17 46629736 46629737 - G INS HOXB3 ENST00000311626 human ensembl 69_37n -1 known frame_shift_ins c.101_100 p.Q34fs 1.000:1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 17 0 0.00 13 3 18.75 - - - IGHV4-28 0 genome.wustl.edu 37 14 106780691 106780691 + Missense_Mutation SNP C C T TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 14 106780691 106780691 C T SNP IGHV4-28 ENST00000390612 human ensembl 69_37n -1 known missense c.173 p.R58Q 0.694 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV4-28 HGNC ENSG00000211952 275 0 0.00 356 63 15.00 - - - IQCF1 0 genome.wustl.edu 37 3 51929268 51929268 + Missense_Mutation SNP G G A TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 3 51929268 51929268 G A SNP IQCF1 ENST00000310914 human ensembl 69_37n -1 known missense c.256 p.R86W 0.067 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF1 HGNC ENSG00000173389 95 0 0.00 83 67 44.67 - - - LINC00516 0 genome.wustl.edu 37 14 19904366 19904366 + RNA SNP C C T TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 14 19904366 19904366 C T SNP LINC00516 ENST00000549877 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors LINC00516 HGNC ENSG00000215394 12 0 0.00 37 15 28.85 - - - LRIT1 0 genome.wustl.edu 37 10 85991725 85991725 + Silent SNP A A G TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 10 85991725 85991725 A G SNP LRIT1 ENST00000372105 human ensembl 69_37n -1 known silent c.1830 p.F610 0.003 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRIT1 HGNC ENSG00000148602 10 0 0.00 14 7 33.33 - - - MIA3 0 genome.wustl.edu 37 1 222803199 222803199 + Missense_Mutation SNP C C T TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 1 222803199 222803199 C T SNP MIA3 ENST00000354906 human ensembl 69_37n +1 known missense c.1384 p.P462S 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon MIA3 HGNC ENSG00000154305 45 0 0.00 190 35 15.56 - - - MYH14 0 genome.wustl.edu 37 19 50753926 50753926 + Missense_Mutation SNP T T C TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 19 50753926 50753926 T C SNP MYH14 ENST00000262269 human ensembl 69_37n +1 known missense c.1811 p.V604A 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 13 0 0.00 24 10 29.41 - - - NCKAP1L 0 genome.wustl.edu 37 12 54925050 54925050 + Missense_Mutation SNP G G A TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 12 54925050 54925050 G A SNP NCKAP1L ENST00000293373 human ensembl 69_37n +1 known missense c.2513 p.R838Q 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 163 0 0.00 219 29 11.69 - - - PCDH1 0 genome.wustl.edu 37 5 141242814 141242815 + Frame_Shift_Ins INS - - G TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 5 141242814 141242815 - G INS PCDH1 ENST00000287008 human ensembl 69_37n -1 known frame_shift_ins c.3082_3081 p.K1027fs 1.000:1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 18 0 0.00 24 3 11.11 - - - PIK3C2B 0 genome.wustl.edu 37 1 204394861 204394861 + Silent SNP G G A TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 1 204394861 204394861 G A SNP PIK3C2B ENST00000367187 human ensembl 69_37n -1 known silent c.4596 p.L1532 0.998 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 78 0 0.00 175 43 19.72 - - - PTCH1 0 genome.wustl.edu 37 9 98218641 98218641 + Missense_Mutation SNP C C T TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 9 98218641 98218641 C T SNP PTCH1 ENST00000331920 human ensembl 69_37n -1 known missense c.3223 p.G1075R 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 21 0 0.00 21 12 36.36 - - - RIMS2 0 genome.wustl.edu 37 8 104933950 104933950 + Missense_Mutation SNP A A G TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 8 104933950 104933950 A G SNP RIMS2 ENST00000406091 human ensembl 69_37n +1 known missense c.2134 p.T712A 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 100 0 0.00 321 66 17.05 - - - ROR2 0 genome.wustl.edu 37 9 94493291 94493292 + Frame_Shift_Ins INS - - C TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 9 94493291 94493292 - C INS ROR2 ENST00000375708 human ensembl 69_37n -1 known frame_shift_ins c.1084_1083 p.H361fs 1.000:0.825 pirsf_Tyr_kinase_rcpt_ROR,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors ROR2 HGNC ENSG00000169071 26 0 0.00 26 3 10.34 - - - SH2B3 0 genome.wustl.edu 37 12 111885304 111885304 + Missense_Mutation SNP C C T TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 12 111885304 111885304 C T SNP SH2B3 ENST00000538307 human ensembl 69_37n +1 known missense c.586 p.R196C 0.984 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B3 HGNC ENSG00000111252 53 0 0.00 51 25 32.89 - - - SMCHD1 0 genome.wustl.edu 37 18 2722567 2722567 + Missense_Mutation SNP G G T TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 18 2722567 2722567 G T SNP SMCHD1 ENST00000320876 human ensembl 69_37n +1 known missense c.2509 p.V837F 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 125 0 0.00 179 30 14.29 - - - SNORD115-29 0 genome.wustl.edu 37 15 25468428 25468428 + RNA SNP G G A TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 15 25468428 25468428 G A SNP SNORD115-29 ENST00000362834 human ensembl 69_37n +1 known rna NULL NULL 0.428 - - - no_errors SNORD115-29 HGNC ENSG00000199704 48 0 0.00 78 17 17.89 - - - STAU2 0 genome.wustl.edu 37 8 74585370 74585370 + Frame_Shift_Del DEL A A - TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 8 74585370 74585370 A - DEL STAU2 ENST00000524300 human ensembl 69_37n -1 known frame_shift_del c.382 p.Y128fs 1.000 smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STAU2 HGNC ENSG00000040341 143 0 0.00 446 134 22.87 - - - TMEM132D 0 genome.wustl.edu 37 12 130184704 130184705 + Frame_Shift_Ins INS - - G TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 12 130184704 130184705 - G INS TMEM132D ENST00000422113 human ensembl 69_37n -1 known frame_shift_ins c.619_618 p.T206fs 0.073:0.027 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 17 0 0.00 16 2 11.11 - - - TRPM8 0 genome.wustl.edu 37 2 234878392 234878392 + Nonsense_Mutation SNP G G A TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 2 234878392 234878392 G A SNP TRPM8 ENST00000324695 human ensembl 69_37n +1 known nonsense c.2079 p.W693* 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 42 0 0.00 55 36 39.56 - - - TTLL5 0 genome.wustl.edu 37 14 76232419 76232419 + Missense_Mutation SNP G G A TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 14 76232419 76232419 G A SNP TTLL5 ENST00000298832 human ensembl 69_37n +1 known missense c.1723 p.A575T 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC ENSG00000119685 90 0 0.00 91 85 48.30 - - - UNC79 0 genome.wustl.edu 37 14 94088208 94088208 + Silent SNP C C T TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 14 94088208 94088208 C T SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known silent c.4695 p.N1565 0.001 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 245 0 0.00 318 72 18.46 - - - ZNF644 0 genome.wustl.edu 37 1 91405737 91405737 + Nonsense_Mutation SNP C C A TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee fb5e6f04-b651-434e-901a-11d84eb99da7 1 91405737 91405737 C A SNP ZNF644 ENST00000337393 human ensembl 69_37n -1 known nonsense c.1174 p.E392* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 136 0 0.00 147 83 36.09 - - -