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 CATSPER2 0 genome.wustl.edu 37 15 43939311 43939311 + Missense_Mutation SNP G G C TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 15 43939311 43939311 G C SNP CATSPER2 ENST00000299989 human ensembl 69_37n -1 known missense c.325 p.L109V 0.977 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 181 0 0.00 154 106 40.61 - - - COQ9 0 genome.wustl.edu 37 16 57493549 57493549 + Frame_Shift_Del DEL T T - TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 16 57493549 57493549 T - DEL COQ9 ENST00000262507 human ensembl 69_37n +1 known frame_shift_del c.784 p.S262fs 1.000 pfam_COQ9,tigrfam_Ubiq_biosynth_COQ9 pfam_COQ9,superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9 - no_errors COQ9 HGNC ENSG00000088682 179 0 0.00 15 2 11.76 - - - CP 0 genome.wustl.edu 37 3 148930395 148930395 + Silent SNP G G A TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 3 148930395 148930395 G A SNP CP ENST00000264613 human ensembl 69_37n -1 known silent c.237 p.T79 0.298 superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 131 0 0.00 138 117 45.70 - - - ELAC2 0 genome.wustl.edu 37 17 12901771 12901771 + Nonsense_Mutation SNP G G A TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 17 12901771 12901771 G A SNP ELAC2 ENST00000584650 human ensembl 69_37n -1 novel nonsense c.877 p.R293* 0.999 NULL pfam_Beta-lactamas-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ELAC2 HGNC ENSG00000006744 205 0 0.00 70 56 44.44 - - - ELK3 0 genome.wustl.edu 37 12 96653588 96653588 + Missense_Mutation SNP C C A TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 12 96653588 96653588 C A SNP ELK3 ENST00000228741 human ensembl 69_37n +1 known missense c.1082 p.P361Q 1.000 NULL pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELK3 HGNC ENSG00000111145 148 0 0.00 31 32 50.79 - - - FSTL4 0 genome.wustl.edu 37 5 132585181 132585181 + Missense_Mutation SNP A A T TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 5 132585181 132585181 A T SNP FSTL4 ENST00000265342 human ensembl 69_37n -1 known missense c.815 p.V272D 0.994 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL4 HGNC ENSG00000053108 99 0 0.00 10 7 41.18 - - - KCNK4 0 genome.wustl.edu 37 11 64064601 64064601 + Missense_Mutation SNP T T A TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 11 64064601 64064601 T A SNP KCNK4 ENST00000394525 human ensembl 69_37n +1 known missense c.324 p.N108K 0.981 pfam_Ion_trans_2,prints_2pore_dom_K_chnl pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK4 HGNC ENSG00000182450 31 0 0.00 7 10 58.82 - - - LMO7 0 genome.wustl.edu 37 13 76370783 76370783 + Silent SNP A A G TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 13 76370783 76370783 A G SNP LMO7 ENST00000357063 human ensembl 69_37n +1 known silent c.516 p.T172 0.317 superfamily_CH-domain,smart_CH-domain pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 120 0 0.00 58 50 46.30 - - - LRCH1 0 genome.wustl.edu 37 13 47279264 47279264 + Missense_Mutation SNP G G A TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 13 47279264 47279264 G A SNP LRCH1 ENST00000389798 human ensembl 69_37n +1 known missense c.1462 p.A488T 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 117 0 0.00 60 110 64.71 - - - METTL5 0 genome.wustl.edu 37 2 170669020 170669020 + Missense_Mutation SNP T T G TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 2 170669020 170669020 T G SNP METTL5 ENST00000442181 human ensembl 69_37n -1 novel missense c.288 p.L96F 0.726 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region METTL5 HGNC ENSG00000138382 110 0 0.00 118 92 43.60 - - - MMRN2 0 genome.wustl.edu 37 10 88703812 88703812 + Silent SNP G G A TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 10 88703812 88703812 G A SNP MMRN2 ENST00000372027 human ensembl 69_37n -1 known silent c.729 p.P243 1.000 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 34 0 0.00 14 7 33.33 - - - MYH7B 0 genome.wustl.edu 37 20 33568852 33568852 + Silent SNP C C T TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 20 33568852 33568852 C T SNP MYH7B ENST00000262873 human ensembl 69_37n +1 novel silent c.642 p.S214 0.998 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 163 0 0.00 18 26 59.09 - - - PDE2A 0 genome.wustl.edu 37 11 72290428 72290428 + Splice_Site SNP C C G TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 11 72290428 72290428 C G SNP PDE2A ENST00000334456 human ensembl 69_37n -1 known splice_site c.2257-1 e27-1 1.000 - - - no_errors PDE2A HGNC ENSG00000186642 42 0 0.00 8 5 38.46 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 36 0 0.00 69 76 52.41 - - - SCN2A 0 genome.wustl.edu 37 2 166245338 166245338 + Silent SNP C C T TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 2 166245338 166245338 C T SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known silent c.5022 p.Y1674 0.954 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 854 0 0.00 144 121 45.66 - - - SIK3 0 genome.wustl.edu 37 11 116732018 116732018 + Frame_Shift_Del DEL G G - TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 11 116732018 116732018 G - DEL SIK3 ENST00000375300 human ensembl 69_37n -1 known frame_shift_del c.2253 p.M752fs 0.024 NULL pfam_Prot_kinase_cat_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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors SIK3 HGNC ENSG00000160584 67 0 0.00 8 26 76.47 - - - TMEM120B 0 genome.wustl.edu 37 12 122212588 122212588 + Missense_Mutation SNP G G A TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 12 122212588 122212588 G A SNP TMEM120B ENST00000342607 human ensembl 69_37n +1 known missense c.797 p.R266Q 1.000 pfam_TMPIT pfam_TMPIT - no_errors TMEM120B HGNC ENSG00000188735 114 0 0.00 32 38 54.29 - - - TRBV4-1 0 genome.wustl.edu 37 7 142013464 142013464 + Silent SNP C C T TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 7 142013464 142013464 C T SNP TRBV4-1 ENST00000390357 human ensembl 69_37n +1 known silent c.319 p.L107 0.000 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV4-1 HGNC ENSG00000211710 41 0 0.00 23 22 48.89 - - - WEE2 0 genome.wustl.edu 37 7 141427142 141427142 + Silent SNP A A T TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 7 141427142 141427142 A T SNP WEE2 ENST00000397541 human ensembl 69_37n +1 known silent c.1431 p.A477 0.315 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom - no_errors WEE2 HGNC ENSG00000214102 63 0 0.00 34 22 39.29 - - - ZKSCAN1 0 genome.wustl.edu 37 7 99631717 99631717 + Missense_Mutation SNP C C G TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3fa14183-e0c5-4dc2-bb4a-d8dd42f6578b 6f5bdee8-4595-46eb-960a-3001189bb761 7 99631717 99631717 C G SNP ZKSCAN1 ENST00000324306 human ensembl 69_37n +1 known missense c.1589 p.S530C 0.227 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 58 0 0.00 34 19 35.85 - - -