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 rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val DDX26B 0 genome.wustl.edu 37 X 134713737 134713737 + Missense_Mutation SNP A A G TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af X 134713737 134713737 A G SNP DDX26B ENST00000370752 human ensembl 74_37 1 known missense c.2033 p.H678R 0.656 NULL pfscan_VWF_A 0 no_errors 0 0 0 29 0 0 19 7 26.92 68 0 0.00 31 17 35.42 HMCN1 0 genome.wustl.edu 37 1 186052062 186052062 + Silent SNP T T C TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af 1 186052062 186052062 T C SNP HMCN1 ENST00000271588 human ensembl 74_37 1 known silent c.8853 p.S2951 1 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom 0 no_errors 0 0 0 94 0 0 98 20 16.95 283 0 0.00 247 57 18.75 DYSF 0 genome.wustl.edu 37 2 71738996 71738996 + Silent SNP G G A TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af 2 71738996 71738996 G A SNP DYSF ENST00000413539 human ensembl 74_37 1 known silent c.402 p.P134 0.01 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom 0 no_errors 0 0 0 52 0 0 37 14 26.42 69 0 0.00 71 7 8.86 MUC4 0 genome.wustl.edu 37 3 195507011 195507011 + Missense_Mutation SNP G G A TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af 3 195507011 195507011 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.11440 p.L3814F 0.781 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom 0 no_errors rs367569617 G->A 0 40 0 0 60 13 16.67 23 0 0.00 28 5 14.71 RWDD4 0 genome.wustl.edu 37 4 184577088 184577088 + Silent SNP A A T TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af 4 184577088 184577088 A T SNP RWDD4 ENST00000326397 human ensembl 74_37 -1 known silent c.51 p.I17 1 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain 0 no_errors 0 0 0 33 0 0 41 15 26.79 120 0 0.00 98 32 24.62 GTF2I 0 genome.wustl.edu 37 7 74146970 74146970 + Missense_Mutation SNP T T A TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af 7 74146970 74146970 T A SNP GTF2I ENST00000324896 human ensembl 74_37 1 known missense c.1271 p.L424H 1 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I 0 no_errors 0 0 0 266 0 0 317 64 16.8 126 0 0.00 103 27 20.77 PCLO 0 genome.wustl.edu 37 7 82578982 82578982 + Missense_Mutation SNP A A T TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af 7 82578982 82578982 A T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.10922 p.V3641E 1 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ 0 no_errors 0 0 0 75 1 1.3 87 24 21.62 160 0 0.00 157 55 25.82 ATP12A 0 genome.wustl.edu 37 13 25274967 25274967 + Silent SNP C C A TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af 13 25274967 25274967 C A SNP ATP12A ENST00000218548 human ensembl 74_37 1 known silent c.1806 p.S602 0.504 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase 0 no_errors 0 0 0 41 0 0 52 15 22.39 243 0 0.00 178 51 22.17 MYO1E 0 genome.wustl.edu 37 15 59523988 59523988 + Missense_Mutation SNP G G A TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af 15 59523988 59523988 G A SNP MYO1E ENST00000558571 human ensembl 74_37 -1 known missense c.335 p.T112M 0.982 prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,prints_Myosin_head_motor_dom 0 no_errors 0 0 0 54 0 0 48 13 21.31 175 0 0.00 122 48 28.24 TSC2 0 genome.wustl.edu 37 16 2126081 2126081 + Nonsense_Mutation SNP C C G TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af 16 2126081 2126081 C G SNP TSC2 ENST00000219476 human ensembl 74_37 1 known nonsense c.2652 p.Y884* 1 pfam_Tuberin-type_domain,prints_Tuberin pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin 0 no_errors 0 0 0 71 0 0 60 5 7.69 201 0 0.00 170 11 6.08 MYH13 0 genome.wustl.edu 37 17 10248531 10248531 + Silent SNP C C T TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af 17 10248531 10248531 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.1572 p.E524 1 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom 0 no_errors 0 0 0 85 0 0 82 23 21.9 68 0 0.00 62 24 27.91 IRX6 0 genome.wustl.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 GAG GAG GAG - GAG GAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af 16 55362674 55362676 GAG 0 DEL IRX6 ENST00000290552 human ensembl 74_37 1 known in_frame_del c.784_786 p.E265in_frame_del 0.987:0.988:0.993 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom 0 no_errors 0 0 0 39 0 0 47 4 7.84 61 1 1.61 80 4 4.76 HLA-DRB1 0 genome.wustl.edu 37 6 32551958 32551959 + Frame_Shift_Ins INS - - TT TCGA-X7-A8M1-01A-11D-A423-09 TCGA-X7-A8M1-10A-01D-A426-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205b2fb9-9ae3-4bb5-88a3-572f6d748640 af3ecfe9-d472-4379-8b78-2d057a1867af 6 32551958 32551959 0 TT INS HLA-DRB1 ENST00000360004 human ensembl 74_37 -1 known frame_shift_ins c.298_297 p.A99fs 0.000:0.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N 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 0 no_errors rs200320734 C->CTT 0 12 0 0 9 6 40 2 0 0.00 3 0 0.00