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 STAB1 0 genome.wustl.edu 37 3 52547961 52547961 + Missense_Mutation SNP G G T TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 3 52547961 52547961 G T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.3411 p.L1137F 0.000 superfamily_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 38 0 0.00 41 20 32.79 31 0 0.00 13 5 27.78 SMARCC2 0 genome.wustl.edu 37 12 56567544 56567544 + Missense_Mutation SNP G G C TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 12 56567544 56567544 G C SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.1586 p.S529C 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 tier1 - - 39 0 0.00 264 246 48.24 59 0 0.00 235 195 45.35 SLC4A7 0 genome.wustl.edu 37 3 27472860 27472860 + Missense_Mutation SNP G G A TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 3 27472860 27472860 G A SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.1079 p.P360L 0.999 pfam_Band3_cytoplasmic_dom pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 tier1 - - 60 0 0.00 42 18 30.00 55 0 0.00 41 7 14.58 CRP 0 genome.wustl.edu 37 1 159683597 159683597 + Silent SNP C C T TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 1 159683597 159683597 C T SNP CRP ENST00000255030 human ensembl 74_37 -1 known silent c.393 p.G131 0.266 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 tier1 - - 33 0 0.00 686 108 13.60 63 0 0.00 1051 178 14.48 ZFYVE26 0 genome.wustl.edu 37 14 68229454 68229454 + Missense_Mutation SNP G G T TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 14 68229454 68229454 G T SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.6094 p.P2032T 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 tier1 - - 50 0 0.00 64 25 28.09 67 0 0.00 59 16 21.33 MED13 0 genome.wustl.edu 37 17 60042707 60042707 + Missense_Mutation SNP G G C TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 17 60042707 60042707 G C SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.4504 p.P1502A 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 tier1 - - 22 0 0.00 16 15 48.39 82 0 0.00 21 15 41.67 ATP6V0A4 0 genome.wustl.edu 37 7 138447177 138447177 + Silent SNP C C T TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 7 138447177 138447177 C T SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known silent c.420 p.T140 0.796 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 tier1 rs61747679 - 37 0 0.00 47 12 20.34 99 0 0.00 72 38 34.55 DMD 0 genome.wustl.edu 37 X 31462736 31462736 + Silent SNP T T C TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 X 31462736 31462736 T C SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.8946 p.R2982 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 31 0 0.00 274 74 21.26 52 1 1.89 332 87 20.71 PLCH2 0 genome.wustl.edu 37 1 2411240 2411240 + Silent SNP C C T TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 1 2411240 2411240 C T SNP PLCH2 ENST00000378486 human ensembl 74_37 +1 known silent c.339 p.D113 0.232 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 tier1 - - 9 0 0.00 11 10 47.62 30 0 0.00 15 8 34.78 TMEM132B 0 genome.wustl.edu 37 12 126004115 126004115 + Missense_Mutation SNP G G A TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 12 126004115 126004115 G A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.1222 p.V408I 0.991 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 79 0 0.00 84 20 19.23 60 0 0.00 41 9 18.00 CHL1 0 genome.wustl.edu 37 3 370047 370047 + R SNP A A G TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 3 370047 370047 A G SNP CHL1 ENST00000461289 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 25 0 0.00 20 15 42.86 113 0 0.00 51 29 36.25 METTL13 0 genome.wustl.edu 37 1 171765642 171765642 + Missense_Mutation SNP G G C TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 1 171765642 171765642 G C SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.1846 p.V616L 1.000 NULL pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 tier1 - - 87 0 0.00 332 55 14.21 99 0 0.00 233 29 11.07 SMARCC2 0 genome.wustl.edu 37 12 56565571 56565571 + Nonsense_Mutation SNP G G A TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 12 56565571 56565571 G A SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known nonsense c.1984 p.Q662* 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 tier1 - - 26 0 0.00 147 133 47.50 45 0 0.00 206 210 50.48 ATAD5 0 genome.wustl.edu 37 17 29220695 29220695 + Silent SNP C C T TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 17 29220695 29220695 C T SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known silent c.4824 p.D1608 0.798 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 tier1 - - 17 0 0.00 12 9 42.86 109 0 0.00 29 39 57.35 ENSG00000235999 0 genome.wustl.edu 37 1 149287701 149287701 + R SNP G G A TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 1 149287701 149287701 G A SNP ENSG00000235999 ENST00000433084 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-403I13.8 Clone_based_vega_gene ENSG00000235999 tier1 - - 19 0 0.00 91 38 29.46 11 0 0.00 53 16 23.19 SPNS2 0 genome.wustl.edu 37 17 4436615 4436615 + Missense_Mutation SNP G G A TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 17 4436615 4436615 G A SNP SPNS2 ENST00000329078 human ensembl 74_37 +1 known missense c.1166 p.R389H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 tier1 rs202025950 GMAF=0 80 0 0.00 62 42 40.38 11 0 0.00 9 2 18.18 HELZ2 0 genome.wustl.edu 37 20 62203363 62203363 + R SNP T T C TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 20 62203363 62203363 T C SNP HELZ2 ENST00000479540 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 57 0 0.00 69 8 10.39 10 0 0.00 9 0 0.00 HELZ2 0 genome.wustl.edu 37 20 62203364 62203364 + R SNP G G A TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 20 62203364 62203364 G A SNP HELZ2 ENST00000479540 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 57 0 0.00 67 8 10.67 10 0 0.00 9 0 0.00 HIC1 0 genome.wustl.edu 37 17 1961286 1961286 + Silent SNP C C T TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 17 1961286 1961286 C T SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known silent c.1359 p.N453 0.949 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 tier1 - - 55 0 0.00 32 28 46.67 7 0 0.00 4 1 20.00 C19orf35 0 genome.wustl.edu 37 19 2280757 2280776 + Frame_Shift_Del DEL CCTGCCGCTCCCTGCACCCA CCTGCCGCTCCCTGCACCCA - TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 CCTGCCGCTCCCTGCACCCA CCTGCCGCTCCCTGCACCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 19 2280757 2280776 CCTGCCGCTCCCTGCACCCA - DEL C19orf35 ENST00000590316 human ensembl 74_37 -1 known frame_shift_del c.174_155 p.V52fs 0.339:0.033:0.011:0.003:0.002:0.000:0.002:0.002:0.003:0.008:0.009:0.011:0.005:0.001:0.000:0.000:0.000:0.000:0.000:0.000 NULL NULL - no_errors C19orf35 HGNC ENSG00000188305 tier1 2 0 0.00 5 0 0.00 2 0 0.00 5 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143189128 143189128 + R SNP G G A TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 1 143189128 143189128 G A SNP ENSG00000232274 ENST00000447389 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 rs202058739 - 11 0 0.00 12 7 36.84 0 0 0.00 0 0 0.00 GALNT6 0 genome.wustl.edu 37 12 51785401 51785402 + R INS - - AGCCGC TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db6e6cc-1a06-49b9-834e-b6611cde4c4b 2ced1edd-817a-4e6b-96b5-c192f0a91663 12 51785401 51785402 - AGCCGC INS GALNT6 ENST00000603203 human ensembl 74_37 -1 known rna NULL NULL 0.021:0.127 - - - no_errors GALNT6 HGNC ENSG00000139629 tier1 2 0 0.00 2 2 50.00 2 0 0.00 2 2 50.00