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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val MYO3A 0 genome.wustl.edu 37 10 26310463 26310463 + Missense_Mutation SNP C C T TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 10 26310463 26310463 C T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.617 p.T206I 1.000 pfam_Prot_kinase_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_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 tier1 - - 43 0 0.00 18 32 64.00 136 0 0.00 91 51 35.92 DH3 0 genome.wustl.edu 37 16 21108691 21108691 + Missense_Mutation SNP C C G TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 16 21108691 21108691 C G SNP DH3 ENST00000261383 human ensembl 74_37 -1 known missense c.2650 p.E884Q 0.999 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DH3 HGNC ENSG00000158486 tier1 - - 37 0 0.00 24 14 36.84 97 0 0.00 57 34 37.36 RASAL2 0 genome.wustl.edu 37 1 178063820 178063820 + Missense_Mutation SNP C C T TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 1 178063820 178063820 C T SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.193 p.R65W 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 tier1 - - 34 0 0.00 13 13 50.00 72 0 0.00 60 41 40.59 TMEM132D 0 genome.wustl.edu 37 12 129694177 129694177 + Missense_Mutation SNP G G A TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 12 129694177 129694177 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1331 p.T444M 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 49 0 0.00 26 17 39.53 59 0 0.00 42 24 36.36 GSTA4 0 genome.wustl.edu 37 6 52849261 52849261 + Splice_Site SNP C C A TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 6 52849261 52849261 C A SNP GSTA4 ENST00000370959 human ensembl 74_37 -1 known splice_site c.414+1 e4+1 1.000 - - - no_errors GSTA4 HGNC ENSG00000170899 tier1 - - 208 0 0.00 20 90 81.82 173 0 0.00 27 99 78.57 F5 0 genome.wustl.edu 37 1 169510957 169510957 + Missense_Mutation SNP T T C TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 1 169510957 169510957 T C SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.3371 p.E1124G 0.277 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 tier1 - - 105 0 0.00 65 44 40.37 124 0 0.00 86 37 30.08 SPPL2C 0 genome.wustl.edu 37 17 43924079 43924079 + Missense_Mutation SNP G G A TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 17 43924079 43924079 G A SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.1807 p.G603S 1.000 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 tier1 - - 32 0 0.00 21 7 25.00 71 0 0.00 66 31 31.63 C10orf68 0 genome.wustl.edu 37 10 33140795 33140795 + Missense_Mutation SNP C C T TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 10 33140795 33140795 C T SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.1877 p.T626I 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 tier1 - - 43 0 0.00 44 6 12.00 154 1 0.64 132 23 14.84 FAM134A 0 genome.wustl.edu 37 2 220045810 220045810 + Missense_Mutation SNP G G T TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 2 220045810 220045810 G T SNP FAM134A ENST00000430297 human ensembl 74_37 +1 known missense c.667 p.V223L 1.000 pfam_Reticulon pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 tier1 - - 85 0 0.00 38 30 44.12 124 0 0.00 74 50 40.32 MIR200A 0 genome.wustl.edu 37 1 1103249 1103249 + R SNP C C T TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 1 1103249 1103249 C T SNP MIR200A ENST00000384875 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR200A HGNC ENSG00000207607 tier1 - - 111 0 0.00 9 60 86.96 44 0 0.00 2 20 90.91 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934578 - 30 0 0.00 2 17 89.47 47 0 0.00 8 31 79.49 FAM196B 0 genome.wustl.edu 37 5 169309787 169309787 + Silent SNP A A G TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 5 169309787 169309787 A G SNP FAM196B ENST00000377365 human ensembl 74_37 -1 known silent c.1116 p.N372 0.000 NULL NULL - no_errors FAM196B HGNC ENSG00000204767 tier1 - - 55 0 0.00 61 7 10.29 70 0 0.00 79 7 8.14 SEH1L 0 genome.wustl.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 TCC TCC TCC - TCC TCC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 18 12986927 12986929 TCC - DEL SEH1L ENST00000399892 human ensembl 74_37 +1 known in_frame_del c.1137_1139 p.P383in_frame_del 0.997:1.000:1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SEH1L HGNC ENSG00000085415 tier1 25 0 0.00 25 4 13.79 59 0 0.00 50 4 7.41 TMED10 0 genome.wustl.edu 37 14 75601711 75601712 + Splice_Site INS - - A TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 14 75601711 75601712 - A INS TMED10 ENST00000303575 human ensembl 74_37 -1 known splice_site_ins c.539-3_539-2 e5-2 1.000:0.961 - - - no_errors TMED10 HGNC ENSG00000170348 tier1 38 0 0.00 27 3 10.00 70 1 1.41 80 4 4.76 TTLL5 0 genome.wustl.edu 37 14 76420882 76420882 + R DEL T T - TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 14 76420882 76420882 T - DEL TTLL5 ENST00000554972 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TTLL5 HGNC ENSG00000119685 tier1 25 0 0.00 33 4 10.81 45 1 2.17 55 11 16.67 HLA-DRB1 0 genome.wustl.edu 37 6 32548628 32548628 + Missense_Mutation SNP G G A TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 6 32548628 32548628 G A SNP HLA-DRB1 ENST00000360004 human ensembl 74_37 -1 known missense c.658 p.R220W 0.988 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DRB1 HGNC ENSG00000196126 tier1 rs34624872 - 133 1 0.75 35 9 20.45 49 0 0.00 9 0 0.00 CES1P1 0 genome.wustl.edu 37 16 55803899 55803899 + R SNP G G A TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 16 55803899 55803899 G A SNP CES1P1 ENST00000571348 human ensembl 74_37 +1 known rna NULL NULL 0.860 - - - no_errors CES1P1 HGNC ENSG00000228695 tier1 - - 14 0 0.00 11 4 26.67 0 0 0.00 0 0 0.00 ENSG00000235704 0 genome.wustl.edu 37 22 20378616 20378628 + R DEL GGGATCCGGGGGT GGGATCCGGGGGT - TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 GGGATCCGGGGGT GGGATCCGGGGGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 22 20378616 20378628 GGGATCCGGGGGT - DEL ENSG00000235704 ENST00000426653 human ensembl 74_37 +1 known rna NULL NULL 0.009:0.014:0.006:0.004:0.011:0.028:0.217:0.219:0.178:0.177:0.193:0.194:0.213 - - - no_errors AC023490.2 Clone_based_vega_gene ENSG00000235704 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 HES3 0 genome.wustl.edu 37 1 6305511 6305511 + Missense_Mutation SNP G G T TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 1 6305511 6305511 G T SNP HES3 ENST00000377898 human ensembl 74_37 +1 known missense c.505 p.G169W 0.007 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HES3 HGNC ENSG00000173673 tier1 - - 80 0 0.00 29 4 12.12 3 0 0.00 2 0 0.00 SDHAP1 0 genome.wustl.edu 37 3 195687221 195687221 + R SNP A A G TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 3 195687221 195687221 A G SNP SDHAP1 ENST00000427149 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors SDHAP1 HGNC ENSG00000185485 tier1 rs62282781 - 14 0 0.00 8 5 38.46 3 0 0.00 6 0 0.00 TELO2 0 genome.wustl.edu 37 16 1550652 1550652 + Missense_Mutation SNP G G T TCGA-DX-A48J-01A-21D-A307-09 TCGA-DX-A48J-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31d841a-1b54-4e64-bde0-e458668a7f88 130d56bf-7533-4fbc-bea1-bc8973a3b123 16 1550652 1550652 G T SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.1233 p.E411D 0.755 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 tier1 - - 32 0 0.00 22 4 15.38 25 0 0.00 34 2 5.56