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 ARHGEF1 0 genome.wustl.edu 37 19 42396193 42396193 + Missense_Mutation SNP C C T TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 19 42396193 42396193 C T SNP ARHGEF1 ENST00000337665 human ensembl 69_37n +1 known missense c.368 p.A123V 1.000 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 72 0 0.00 70 11 13.41 - - - ARHGEF10L 0 genome.wustl.edu 37 1 17964411 17964411 + Silent SNP C C A TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 1 17964411 17964411 C A SNP ARHGEF10L ENST00000361221 human ensembl 69_37n +1 known silent c.1956 p.L652 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 31 0 0.00 21 4 16.00 - - - ARID2 0 genome.wustl.edu 37 12 46230605 46230605 + Missense_Mutation SNP G G A TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 12 46230605 46230605 G A SNP ARID2 ENST00000334344 human ensembl 69_37n +1 known missense c.854 p.R285Q 1.000 superfamily_ARM-type_fold pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 136 1 0.73 269 39 12.66 - - - CHADL 0 genome.wustl.edu 37 22 41636845 41636846 + Frame_Shift_Ins INS - - C TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 22 41636845 41636846 - C INS CHADL ENST00000455425 human ensembl 69_37n -1 putative frame_shift_ins c.54_53 p.F19fs 0.005:0.003 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region CHADL HGNC ENSG00000100399 28 0 0.00 26 3 10.34 - - - CHAF1A 0 genome.wustl.edu 37 19 4432011 4432011 + Missense_Mutation SNP G G T TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 19 4432011 4432011 G T SNP CHAF1A ENST00000301280 human ensembl 69_37n +1 known missense c.2010 p.E670D 0.991 NULL pfam_CAF1A,pfam_CAF-1_p150 - no_errors CHAF1A HGNC ENSG00000167670 105 0 0.00 64 8 11.11 - - - CLSTN2 0 genome.wustl.edu 37 3 140251267 140251267 + Silent SNP C C T TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 3 140251267 140251267 C T SNP CLSTN2 ENST00000458420 human ensembl 69_37n +1 known silent c.1446 p.N482 0.984 superfamily_ConA-like_lec_gl pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 112 0 0.00 124 24 16.22 - - - GPI 0 genome.wustl.edu 37 19 34856187 34856188 + Frame_Shift_Ins INS - - G TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 19 34856187 34856188 - G INS GPI ENST00000415930 human ensembl 69_37n +1 known frame_shift_ins c.133_134 p.D46fs 0.460:0.410 NULL pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 33 0 0.00 9 2 18.18 - - - HECW1 0 genome.wustl.edu 37 7 43590145 43590145 + Silent SNP C C T TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 7 43590145 43590145 C T SNP HECW1 ENST00000395891 human ensembl 69_37n +1 known silent c.4350 p.R1450 0.091 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 155 0 0.00 138 19 12.03 - - - KCNQ5 0 genome.wustl.edu 37 6 73843189 73843189 + Missense_Mutation SNP G G A TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 6 73843189 73843189 G A SNP KCNQ5 ENST00000427928 human ensembl 69_37n +1 putative missense c.67 p.G23R 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KCNQ5 HGNC ENSG00000185760 254 0 0.00 124 14 10.14 - - - NF1 0 genome.wustl.edu 37 17 29548939 29548939 + Nonsense_Mutation SNP G G A TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 17 29548939 29548939 G A SNP NF1 ENST00000358273 human ensembl 69_37n +1 known nonsense c.1713 p.W571* 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 46 0 0.00 259 37 12.50 - - - PCLO 0 genome.wustl.edu 37 7 82791690 82791691 + Frame_Shift_Ins INS - - G TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 7 82791690 82791691 - G INS PCLO ENST00000333891 human ensembl 69_37n -1 known frame_shift_ins c.219_218 p.A74fs 0.999:0.998 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 27 0 0.00 23 3 11.54 - - - SH3PXD2A 0 genome.wustl.edu 37 10 105484097 105484098 + Frame_Shift_Ins INS - - G TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 10 105484097 105484098 - G INS SH3PXD2A ENST00000369774 human ensembl 69_37n -1 known frame_shift_ins c.329_328 p.H110fs 1.000:0.989 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 44 0 0.00 40 5 11.11 - - - SVEP1 0 genome.wustl.edu 37 9 113191597 113191597 + Missense_Mutation SNP G G T TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 9 113191597 113191597 G T SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known missense c.5633 p.T1878N 0.002 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 44 0 0.00 83 14 14.43 - - - TEKT1 0 genome.wustl.edu 37 17 6733605 6733605 + Silent SNP T T G TCGA-A2-A04Q-01A-21W-A050-09 TCGA-A2-A04Q-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02eb17d4-9e9e-4e32-96b0-90ccdda3f167 41482042-a515-4e00-985b-f18952dfcbf3 17 6733605 6733605 T G SNP TEKT1 ENST00000338694 human ensembl 69_37n -1 known silent c.91 p.R31 0.728 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 59 0 0.00 96 16 14.29 - - -