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 SPG11 0 genome.wustl.edu 37 15 44876519 44876519 + Missense_Mutation SNP C C A TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 15 44876519 44876519 C A SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.5359 p.D1787Y 0.009 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 tier1 - - 67 0 0.00 39 25 39.06 30 0 0.00 36 11 23.40 TBC1D12 0 genome.wustl.edu 37 10 96292870 96292870 + R SNP A A T TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 10 96292870 96292870 A T SNP TBC1D12 ENST00000485048 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors TBC1D12 HGNC ENSG00000108239 tier1 - - 65 0 0.00 43 27 38.57 136 0 0.00 72 52 41.94 TUBGCP5 0 genome.wustl.edu 37 15 22853761 22853761 + Missense_Mutation SNP G G C TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 15 22853761 22853761 G C SNP TUBGCP5 ENST00000283645 human ensembl 74_37 +1 known missense c.1399 p.E467Q 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP5 HGNC ENSG00000153575 tier1 - - 99 0 0.00 55 31 36.05 82 0 0.00 39 24 38.10 ATM 0 genome.wustl.edu 37 11 108119792 108119792 + Missense_Mutation SNP C C A TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 11 108119792 108119792 C A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.1198 p.L400I 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 72 0 0.00 66 27 29.03 104 0 0.00 66 26 28.26 SYT2 0 genome.wustl.edu 37 1 202571629 202571629 + Missense_Mutation SNP G G C TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 1 202571629 202571629 G C SNP SYT2 ENST00000367267 human ensembl 74_37 -1 known missense c.510 p.D170E 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT2 HGNC ENSG00000143858 tier1 - - 71 0 0.00 35 24 40.00 34 0 0.00 11 9 45.00 SLC27A6 0 genome.wustl.edu 37 5 128302184 128302184 + Silent SNP C C T TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 5 128302184 128302184 C T SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known silent c.354 p.F118 0.886 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 tier1 - - 126 0 0.00 93 38 29.01 96 0 0.00 55 28 33.73 STMND1 0 genome.wustl.edu 37 6 17120900 17120900 + Missense_Mutation SNP T T A TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 6 17120900 17120900 T A SNP STMND1 ENST00000536551 human ensembl 74_37 +1 known missense c.322 p.S108T 1.000 NULL pfam_Stathmin_fam,superfamily_Stathmin_fam - no_errors STMND1 HGNC ENSG00000230873 tier1 - - 55 0 0.00 43 22 33.85 84 0 0.00 50 32 39.02 OR6C76 0 genome.wustl.edu 37 12 55820132 55820132 + Missense_Mutation SNP C C T TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 12 55820132 55820132 C T SNP OR6C76 ENST00000328314 human ensembl 74_37 +1 known missense c.95 p.T32M 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 tier1 - - 147 0 0.00 96 40 29.41 77 0 0.00 61 32 34.41 ABCC6 0 genome.wustl.edu 37 16 16248796 16248796 + Silent SNP G G A TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 16 16248796 16248796 G A SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known silent c.3975 p.I1325 0.995 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 tier1 - - 149 0 0.00 111 47 29.75 20 0 0.00 15 5 25.00 KRTAP22-2 0 genome.wustl.edu 37 21 31962669 31962669 + Missense_Mutation SNP C C A TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 21 31962669 31962669 C A SNP KRTAP22-2 ENST00000382830 human ensembl 74_37 -1 known missense c.25 p.G9C 0.022 NULL NULL - no_errors KRTAP22-2 HGNC ENSG00000206106 tier1 - - 133 0 0.00 102 57 35.85 105 0 0.00 57 38 39.58 ENSG00000258704 0 genome.wustl.edu 37 14 35390827 35390827 + R SNP C C A TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 14 35390827 35390827 C A SNP ENSG00000258704 ENST00000555015 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-85K15.2 Clone_based_vega_gene ENSG00000258704 tier1 - - 30 0 0.00 14 11 44.00 25 0 0.00 16 13 44.83 RPL36A 0 genome.wustl.edu 37 X 100646748 100646748 + Missense_Mutation SNP C C T TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 X 100646748 100646748 C T SNP RPL36A ENST00000427805 human ensembl 74_37 +1 known missense c.223 p.R75W 1.000 pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd - no_errors RPL36A HGNC ENSG00000241343 tier1 - - 148 0 0.00 113 53 31.93 103 0 0.00 78 42 35.00 CARD11 0 genome.wustl.edu 37 7 2953040 2953040 + Missense_Mutation SNP C C T TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 7 2953040 2953040 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.2900 p.R967H 0.963 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 tier1 rs141751925 GMAF=0.0005 212 0 0.00 137 71 34.13 27 0 0.00 11 11 50.00 ISM1 0 genome.wustl.edu 37 20 13279761 13279761 + Silent SNP C C T TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 20 13279761 13279761 C T SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known silent c.1050 p.D350 0.980 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 tier1 - - 59 0 0.00 37 22 37.29 18 0 0.00 12 8 40.00 ROBO3 0 genome.wustl.edu 37 11 124751212 124751212 + R SNP C C T TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 11 124751212 124751212 C T SNP ROBO3 ENST00000525482 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ROBO3 HGNC ENSG00000154134 tier1 - - 69 0 0.00 64 22 25.58 65 0 0.00 51 25 32.89 ANKLE1 0 genome.wustl.edu 37 19 17397486 17397501 + Frame_Shift_Del DEL TGTGTGTGTGTGTGTT TGTGTGTGTGTGTGTT - TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 TGTGTGTGTGTGTGTT TGTGTGTGTGTGTGTT TGTGTGTGTGTGTGTT - TGTGTGTGTGTGTGTT TGTGTGTGTGTGTGTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 19 17397486 17397501 TGTGTGTGTGTGTGTT - DEL ANKLE1 ENST00000598347 human ensembl 74_37 +1 putative frame_shift_del c.1756_1771 p.C590fs 0.820:0.697:0.344:0.098:0.082:0.071:0.072:0.077:0.073:0.072:0.083:0.085:0.079:0.064:0.026:0.004 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ENSG00000160117 tier1 18 0 0.00 11 2 15.38 18 0 0.00 11 2 15.38 LOC644794 0 genome.wustl.edu 37 7 66369212 66369213 + R INS - - GGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 7 66369212 66369213 - GGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC INS LOC644794 ENST00000610177 human ensembl 74_37 +1 known rna NULL NULL 0.293:0.454 - - - no_errors RP11-458F8.4 Clone_based_vega_gene ENSG00000273142 tier1 1 0 0.00 1 0 0.00 1 0 0.00 1 0 0.00 PIPSL 0 genome.wustl.edu 37 10 95718377 95718378 + R INS - - T TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 10 95718377 95718378 - T INS PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.070:0.069 - - - no_errors PIPSL HGNC ENSG00000180764 tier1 25 0 0.00 13 3 18.75 0 0 0.00 0 0 0.00 TTC3 0 genome.wustl.edu 37 21 38463868 38463869 + R INS - - TTATTTAT TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 21 38463868 38463869 - TTATTTAT INS TTC3 ENST00000484047 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors TTC3 HGNC ENSG00000182670 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 JAM3 0 genome.wustl.edu 37 11 133938975 133938975 + Silent SNP C C T TCGA-MJ-A68J-01A-11D-A307-09 TCGA-MJ-A68J-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a 8d0ec126-55e3-413c-bf42-fbaf91347ed4 11 133938975 133938975 C T SNP JAM3 ENST00000529443 human ensembl 74_37 +1 known silent c.132 p.L44 0.947 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors JAM3 HGNC ENSG00000166086 tier1 - - 56 0 0.00 49 26 34.67 0 0 0.00 2 2 50.00