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 ADAT3 0 genome.wustl.edu 37 19 1912236 1912236 + Missense_Mutation SNP G G T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 19 1912236 1912236 G T SNP ADAT3 ENST00000329478 human ensembl 69_37n +1 known missense c.142 p.A48S 0.675 NULL pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors ADAT3 HGNC ENSG00000213638 13 0 0.00 5 7 58.33 - - - ALPPL2 0 genome.wustl.edu 37 2 233274416 233274416 + Missense_Mutation SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 2 233274416 233274416 C T SNP ALPPL2 ENST00000295453 human ensembl 69_37n +1 known missense c.1433 p.A478V 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPPL2 HGNC ENSG00000163286 39 0 0.00 15 16 51.61 - - - AMPD1 0 genome.wustl.edu 37 1 115221144 115221144 + Missense_Mutation SNP T T C TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 1 115221144 115221144 T C SNP AMPD1 ENST00000520113 human ensembl 69_37n -1 known missense c.1001 p.D334G 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 48 0 0.00 43 6 12.00 - - - ASB10 0 genome.wustl.edu 37 7 150884267 150884268 + Frame_Shift_Del DEL AG AG - TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 7 150884267 150884268 AG - DEL ASB10 ENST00000422024 human ensembl 69_37n -1 known frame_shift_del c.86_85 p.L29fs 0.003:0.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB10 HGNC ENSG00000146926 32 0 0.00 41 7 14.58 - - - CACNA1H 0 genome.wustl.edu 37 16 1252141 1252141 + Missense_Mutation SNP G G A TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 16 1252141 1252141 G A SNP CACNA1H ENST00000348261 human ensembl 69_37n +1 known missense c.1691 p.R564H 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 12 0 0.00 11 4 26.67 - - - CIZ1 0 genome.wustl.edu 37 9 130940822 130940822 + RNA SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 9 130940822 130940822 C T SNP CIZ1 ENST00000475471 human ensembl 69_37n -1 known rna NULL NULL 0.021 - - - no_errors CIZ1 HGNC ENSG00000148337 34 0 0.00 25 4 13.79 - - - ELN 0 genome.wustl.edu 37 7 73457489 73457489 + Missense_Mutation SNP A A G TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 7 73457489 73457489 A G SNP ELN ENST00000358929 human ensembl 69_37n +1 known missense c.418 p.K140E 1.000 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 38 0 0.00 23 17 42.50 - - - F8 0 genome.wustl.edu 37 X 154156942 154156942 + Missense_Mutation SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a X 154156942 154156942 C T SNP F8 ENST00000360256 human ensembl 69_37n -1 known missense c.5123 p.R1708H 1.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 50 0 0.00 71 9 11.25 - - - FABP5P3 0 genome.wustl.edu 37 7 152139854 152139854 + RNA SNP A A C TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 7 152139854 152139854 A C SNP FABP5P3 ENST00000477993 human ensembl 69_37n +1 known rna NULL NULL 0.998 - - - no_errors FABP5P3 HGNC ENSG00000241735 35 0 0.00 48 8 14.29 - - - FARP1 0 genome.wustl.edu 37 13 99088137 99088137 + Missense_Mutation SNP G G A TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 13 99088137 99088137 G A SNP FARP1 ENST00000423063 human ensembl 69_37n +1 known missense c.359 p.R120Q 0.000 NULL superfamily_DH-domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FARP1 HGNC ENSG00000152767 115 0 0.00 184 32 14.81 - - - FASN 0 genome.wustl.edu 37 17 80047015 80047015 + Missense_Mutation SNP A A T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 17 80047015 80047015 A T SNP FASN ENST00000306749 human ensembl 69_37n -1 known missense c.2134 p.W712R 1.000 pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 139 0 0.00 52 85 62.04 - - - FLJ37453 0 genome.wustl.edu 37 1 16161867 16161867 + RNA SNP A A G TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 1 16161867 16161867 A G SNP FLJ37453 ENST00000317122 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RP11-169K16.9 Clone_based_vega_gene ENSG00000179743 71 0 0.00 50 7 12.28 - - - GRID2 0 genome.wustl.edu 37 4 94138242 94138242 + RNA SNP A A T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 4 94138242 94138242 A T SNP GRID2 ENST00000505687 human ensembl 69_37n +1 known rna NULL NULL 0.036 - - - no_errors GRID2 HGNC ENSG00000152208 8 0 0.00 4 4 50.00 - - - HEATR7B1 0 genome.wustl.edu 37 2 234716426 234716426 + Silent SNP G G A TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 2 234716426 234716426 G A SNP HEATR7B1 ENST00000389758 human ensembl 69_37n +1 novel silent c.2220 p.T740 0.818 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B1 HGNC ENSG00000185038 88 0 0.00 62 7 10.14 - - - ITPR1 0 genome.wustl.edu 37 3 4821278 4821278 + Silent SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 3 4821278 4821278 C T SNP ITPR1 ENST00000302640 human ensembl 69_37n +1 known silent c.6291 p.H2097 0.986 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 59 0 0.00 64 11 14.47 - - - KAT2B 0 genome.wustl.edu 37 3 20167543 20167543 + Silent SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 3 20167543 20167543 C T SNP KAT2B ENST00000263754 human ensembl 69_37n +1 known silent c.1560 p.N520 0.918 pirsf_Hist_acetylase_PCAF,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2B HGNC ENSG00000114166 81 0 0.00 78 13 14.29 - - - KLC3 0 genome.wustl.edu 37 19 45848849 45848849 + Missense_Mutation SNP G G A TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 19 45848849 45848849 G A SNP KLC3 ENST00000470402 human ensembl 69_37n +1 known missense c.92 p.R31H 0.999 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC3 HGNC ENSG00000104892 23 0 0.00 10 7 41.18 - - - LMX1B 0 genome.wustl.edu 37 9 129458653 129458653 + Missense_Mutation SNP G G C TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 9 129458653 129458653 G C SNP LMX1B ENST00000355497 human ensembl 69_37n +1 known missense c.1144 p.V382L 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LMX1B HGNC ENSG00000136944 39 0 0.00 21 27 56.25 - - - LRRC32 0 genome.wustl.edu 37 11 76377014 76377014 + RNA SNP G G A TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 11 76377014 76377014 G A SNP LRRC32 ENST00000464145 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors LRRC32 HGNC ENSG00000137507 50 0 0.00 22 17 43.59 - - - NAA11 0 genome.wustl.edu 37 4 80246828 80246828 + Silent SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 4 80246828 80246828 C T SNP NAA11 ENST00000286794 human ensembl 69_37n -1 known silent c.204 p.P68 0.615 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA11 HGNC ENSG00000156269 34 0 0.00 34 8 19.05 - - - NDUFS6 0 genome.wustl.edu 37 5 1814783 1814783 + Nonstop_Mutation SNP T T C TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 5 1814783 1814783 T C SNP NDUFS6 ENST00000469176 human ensembl 69_37n +1 putative nonstop c.517 p.*173R 0.001 NULL pfam_Znf_CHCC - no_errors NDUFS6 HGNC ENSG00000145494 18 0 0.00 14 4 22.22 - - - NRXN1 0 genome.wustl.edu 37 2 51255149 51255149 + Missense_Mutation SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 2 51255149 51255149 C T SNP NRXN1 ENST00000402717 human ensembl 69_37n -1 known missense c.263 p.R88H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 13 0 0.00 16 5 23.81 - - - PCDH20 0 genome.wustl.edu 37 13 61987039 61987039 + Missense_Mutation SNP A A G TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 13 61987039 61987039 A G SNP PCDH20 ENST00000409186 human ensembl 69_37n -1 known missense c.1193 p.I398T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 37 0 0.00 15 18 54.55 - - - PROS1 0 genome.wustl.edu 37 3 93619729 93619729 + Missense_Mutation SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 3 93619729 93619729 C T SNP PROS1 ENST00000394236 human ensembl 69_37n -1 known missense c.646 p.V216M 0.998 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 76 0 0.00 38 39 50.65 - - - PTK2B 0 genome.wustl.edu 37 8 27287611 27287611 + Missense_Mutation SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 8 27287611 27287611 C T SNP PTK2B ENST00000346049 human ensembl 69_37n +1 known missense c.553 p.R185W 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 127 0 0.00 84 20 19.23 - - - RB1 0 genome.wustl.edu 37 13 48947596 48947597 + Frame_Shift_Ins INS - - AA TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 13 48947596 48947597 - AA INS RB1 ENST00000267163 human ensembl 69_37n +1 known frame_shift_ins c.1183_1184 p.P396fs 1.000:1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 27 0 0.00 32 17 34.69 - - - RB1 0 genome.wustl.edu 37 13 48947599 48947599 + Missense_Mutation SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 13 48947599 48947599 C T SNP RB1 ENST00000267163 human ensembl 69_37n +1 known missense c.1186 p.P396S 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 27 0 0.00 30 19 38.00 - - - RPS25 0 genome.wustl.edu 37 11 118888095 118888095 + Missense_Mutation SNP G G C TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 11 118888095 118888095 G C SNP RPS25 ENST00000527673 human ensembl 69_37n -1 known missense c.260 p.A87G 1.000 pfam_Ribosomal_S25 pfam_Ribosomal_S25 - no_errors RPS25 HGNC ENSG00000118181 48 0 0.00 35 11 23.91 - - - SPTA1 0 genome.wustl.edu 37 1 158650380 158650380 + Missense_Mutation SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 1 158650380 158650380 C T SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.671 p.C224Y 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 105 0 0.00 104 13 11.11 - - - TP53 0 genome.wustl.edu 37 17 7577558 7577558 + Frame_Shift_Del DEL G G - TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 17 7577558 7577558 G - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.723 p.C242fs 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 112 0 0.00 64 46 41.07 - - - TUBB3 0 genome.wustl.edu 37 16 90001580 90001580 + Missense_Mutation SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 16 90001580 90001580 C T SNP TUBB3 ENST00000315491 human ensembl 69_37n +1 known missense c.721 p.R241C 1.000 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Clone_based_vega_gene ENSG00000258947 142 0 0.00 113 27 19.29 - - - WHAMMP2 0 genome.wustl.edu 37 15 28991148 28991148 + RNA SNP G G C TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 15 28991148 28991148 G C SNP WHAMMP2 ENST00000508764 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors WHAMMP2 HGNC ENSG00000248334 67 0 0.00 40 5 11.11 - - - XIST 0 genome.wustl.edu 37 X 73042610 73042610 + RNA SNP G G A TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a X 73042610 73042610 G A SNP XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 65 0 0.00 39 39 50.00 - - - ZNF613 0 genome.wustl.edu 37 19 52443551 52443551 + Silent SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbed906d-982b-4040-8850-7d7bacf798b7 5ac31689-63f4-49e4-8a06-a822d0ff828a 19 52443551 52443551 C T SNP ZNF613 ENST00000293471 human ensembl 69_37n +1 known silent c.105 p.D35 0.958 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 112 0 0.00 104 26 20.00 - - -