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 ADD3 0 genome.wustl.edu 37 10 111860429 111860429 + Silent SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 10 111860429 111860429 C T SNP ADD3 ENST00000356080 human ensembl 69_37n +1 known silent c.18 p.S6 0.987 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 38 0 0.00 47 75 61.48 - - - ALOXE3 0 genome.wustl.edu 37 17 7999968 7999968 + Missense_Mutation SNP T T A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 17 7999968 7999968 T A SNP ALOXE3 ENST00000318227 human ensembl 69_37n -1 known missense c.2509 p.I837F 0.920 superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 164 0 0.00 127 51 28.65 - - - ANK3 0 genome.wustl.edu 37 10 61833656 61833656 + Missense_Mutation SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 10 61833656 61833656 C T SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.6983 p.R2328H 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 73 0 0.00 47 21 30.88 - - - ARHGAP35 0 genome.wustl.edu 37 19 47422652 47422652 + Silent SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 19 47422652 47422652 C T SNP ARHGAP35 ENST00000404338 human ensembl 69_37n +1 known silent c.720 p.F240 1.000 pfam_Small_GTPase pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 47 0 0.00 29 21 42.00 - - - CCDC144A 0 genome.wustl.edu 37 17 16612273 16612273 + Missense_Mutation SNP G G C TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 17 16612273 16612273 G C SNP CCDC144A ENST00000360524 human ensembl 69_37n +1 known missense c.902 p.R301T 0.975 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 106 0 0.00 82 42 33.87 - - - CHD6 0 genome.wustl.edu 37 20 40143457 40143457 + Missense_Mutation SNP G G C TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 20 40143457 40143457 G C SNP CHD6 ENST00000373233 human ensembl 69_37n -1 known missense c.689 p.S230C 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 87 0 0.00 99 29 22.66 - - - COL18A1 0 genome.wustl.edu 37 21 46875461 46875461 + Missense_Mutation SNP G G A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 21 46875461 46875461 G A SNP COL18A1 ENST00000359759 human ensembl 69_37n +1 known missense c.17 p.C6Y 0.788 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 34 0 0.00 24 5 16.67 - - - COL6A5 0 genome.wustl.edu 37 3 130120614 130120614 + Missense_Mutation SNP T T G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 3 130120614 130120614 T G SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known missense c.4143 p.I1381M 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 76 0 0.00 68 25 26.88 - - - DCAF10 0 genome.wustl.edu 37 9 37861271 37861271 + Silent SNP C C G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 9 37861271 37861271 C G SNP DCAF10 ENST00000377724 human ensembl 69_37n +1 known silent c.1446 p.P482 0.968 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF10 HGNC ENSG00000122741 92 0 0.00 84 30 26.32 - - - DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76631515 76631515 + RNA SNP G G A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 7 76631515 76631515 G A SNP DTX2P1-UPK3BP1-PMS2P11 ENST00000579700 human ensembl 69_37n +1 known rna NULL NULL 0.111 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 32 0 0.00 46 9 16.36 - - - DYX1C1 0 genome.wustl.edu 37 15 55727242 55727242 + Missense_Mutation SNP G G A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 15 55727242 55727242 G A SNP DYX1C1 ENST00000321149 human ensembl 69_37n -1 known missense c.908 p.T303M 0.872 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_CS_domain,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS-like_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 70 0 0.00 79 25 23.81 - - - EDC4 0 genome.wustl.edu 37 16 67917881 67917881 + Missense_Mutation SNP C C A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 16 67917881 67917881 C A SNP EDC4 ENST00000358933 human ensembl 69_37n +1 known missense c.4036 p.H1346N 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 27 0 0.00 29 6 16.67 - - - FLG2 0 genome.wustl.edu 37 1 152329372 152329372 + Missense_Mutation SNP G G A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 1 152329372 152329372 G A SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known missense c.890 p.S297F 1.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 72 0 0.00 86 28 24.35 - - - GNPAT 0 genome.wustl.edu 37 1 231406538 231406538 + Silent SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 1 231406538 231406538 C T SNP GNPAT ENST00000366647 human ensembl 69_37n +1 known silent c.1314 p.S438 0.015 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors GNPAT HGNC ENSG00000116906 71 0 0.00 117 27 18.75 - - - GUCY2C 0 genome.wustl.edu 37 12 14774139 14774139 + Silent SNP G G A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 12 14774139 14774139 G A SNP GUCY2C ENST00000261170 human ensembl 69_37n -1 known silent c.2613 p.I871 0.989 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 87 0 0.00 90 31 25.62 - - - GUCY2C 0 genome.wustl.edu 37 12 14822720 14822720 + Silent SNP A A C TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 12 14822720 14822720 A C SNP GUCY2C ENST00000261170 human ensembl 69_37n -1 known silent c.1218 p.P406 0.000 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 142 0 0.00 143 40 21.86 - - - IGSF3 0 genome.wustl.edu 37 1 117158982 117158982 + Nonsense_Mutation SNP G G T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 1 117158982 117158982 G T SNP IGSF3 ENST00000318837 human ensembl 69_37n -1 known nonsense c.141 p.Y47* 0.994 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF3 HGNC ENSG00000143061 37 0 0.00 27 8 22.22 - - - INADL 0 genome.wustl.edu 37 1 62293124 62293124 + Missense_Mutation SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 1 62293124 62293124 C T SNP INADL ENST00000371158 human ensembl 69_37n +1 known missense c.1849 p.R617C 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 113 0 0.00 78 39 33.05 - - - ITPR2 0 genome.wustl.edu 37 12 26818867 26818867 + Missense_Mutation SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 12 26818867 26818867 C T SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known missense c.1527 p.M509I 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 153 0 0.00 147 49 25.00 - - - JAK1 0 genome.wustl.edu 37 1 65307285 65307285 + Splice_Site SNP C C G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 1 65307285 65307285 C G SNP JAK1 ENST00000342505 human ensembl 69_37n -1 known splice_site c.2404-1 e17-1 1.000 - - - no_errors JAK1 HGNC ENSG00000162434 48 0 0.00 41 10 19.61 - - - MACF1 0 genome.wustl.edu 37 1 39918358 39918358 + Missense_Mutation SNP G G A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 1 39918358 39918358 G A SNP MACF1 ENST00000372925 human ensembl 69_37n +1 novel missense c.11449 p.G3817R 0.160 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_EF_HAND_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MACF1 HGNC ENSG00000127603 92 0 0.00 111 34 23.13 - - - MAGEB1 0 genome.wustl.edu 37 X 30268685 30268685 + Silent SNP C C G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 X 30268685 30268685 C G SNP MAGEB1 ENST00000378981 human ensembl 69_37n +1 known silent c.75 p.L25 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 30 0 0.00 38 9 19.15 - - - MAP2K4 0 genome.wustl.edu 37 17 12044463 12044463 + Splice_Site SNP G G C TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 17 12044463 12044463 G C SNP MAP2K4 ENST00000415385 human ensembl 69_37n +1 known splice_site c.1120-1 e12-1 1.000 - - - no_errors MAP2K4 HGNC ENSG00000065559 127 0 0.00 109 53 32.72 - - - MGAT3 0 genome.wustl.edu 37 22 39884229 39884229 + Missense_Mutation SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 22 39884229 39884229 C T SNP MGAT3 ENST00000341184 human ensembl 69_37n +1 known missense c.877 p.R293C 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 15 0 0.00 6 5 45.45 - - - MLL3 0 genome.wustl.edu 37 7 151860481 151860481 + Missense_Mutation SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 7 151860481 151860481 C T SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.10181 p.S3394N 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 80 0 0.00 106 45 29.61 - - - NBPF1 0 genome.wustl.edu 37 1 16899669 16899669 + RNA SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 1 16899669 16899669 C T SNP NBPF1 ENST00000287968 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors NBPF1 HGNC ENSG00000219481 15 0 0.00 5 3 37.50 - - - NCR1 0 genome.wustl.edu 37 19 55417683 55417683 + Missense_Mutation SNP G G A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 19 55417683 55417683 G A SNP NCR1 ENST00000291890 human ensembl 69_37n +1 known missense c.61 p.A21T 0.000 NULL smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 93 0 0.00 90 24 21.05 - - - PGAP1 0 genome.wustl.edu 37 2 197744811 197744811 + Missense_Mutation SNP G G A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 2 197744811 197744811 G A SNP PGAP1 ENST00000354764 human ensembl 69_37n -1 known missense c.1339 p.R447C 0.979 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 81 0 0.00 75 27 26.47 - - - PINX1 0 genome.wustl.edu 37 8 10623041 10623041 + Missense_Mutation SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 8 10623041 10623041 C T SNP PINX1 ENST00000314787 human ensembl 69_37n -1 known missense c.857 p.G286D 0.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors PINX1 HGNC ENSG00000254093 91 0 0.00 58 35 36.46 - - - POTEE 0 genome.wustl.edu 37 2 132021946 132021946 + Missense_Mutation SNP G G A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 2 132021946 132021946 G A SNP POTEE ENST00000356920 human ensembl 69_37n +1 known missense c.2918 p.G973D 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors AC131180.1 Clone_based_ensembl_gene ENSG00000188219 11 0 0.00 20 10 32.26 - - - RSPO2 0 genome.wustl.edu 37 8 108973037 108973037 + Missense_Mutation SNP T T A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 8 108973037 108973037 T A SNP RSPO2 ENST00000276659 human ensembl 69_37n -1 known missense c.292 p.I98L 1.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO2 HGNC ENSG00000147655 54 0 0.00 79 15 15.96 - - - SEC24D 0 genome.wustl.edu 37 4 119718868 119718868 + Missense_Mutation SNP G G C TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 4 119718868 119718868 G C SNP SEC24D ENST00000379735 human ensembl 69_37n -1 known missense c.1014 p.I338M 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 80 0 0.00 58 27 31.76 - - - SEC31B 0 genome.wustl.edu 37 10 102266117 102266117 + Silent SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 10 102266117 102266117 C T SNP SEC31B ENST00000370345 human ensembl 69_37n -1 known silent c.843 p.K281 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 45 0 0.00 94 17 15.32 - - - SEL1L2 0 genome.wustl.edu 37 20 13846124 13846124 + Nonsense_Mutation SNP C C A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 20 13846124 13846124 C A SNP SEL1L2 ENST00000284951 human ensembl 69_37n -1 known nonsense c.1441 p.E481* 1.000 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 58 0 0.00 66 19 22.35 - - - SH3D21 0 genome.wustl.edu 37 1 36785498 36785498 + Missense_Mutation SNP A A G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 1 36785498 36785498 A G SNP SH3D21 ENST00000453908 human ensembl 69_37n +1 known missense c.1234 p.K412E 0.001 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 42 0 0.00 36 21 36.84 - - - SLC26A4 0 genome.wustl.edu 37 7 107353011 107353011 + Missense_Mutation SNP A A G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 7 107353011 107353011 A G SNP SLC26A4 ENST00000265715 human ensembl 69_37n +1 known missense c.2263 p.T755A 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 154 0 0.00 159 51 24.29 - - - SLC4A5 0 genome.wustl.edu 37 2 74477542 74477542 + Silent SNP G G A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 2 74477542 74477542 G A SNP SLC4A5 ENST00000357822 human ensembl 69_37n -1 known silent c.1581 p.F527 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 97 0 0.00 68 16 19.05 - - - SMYD1 0 genome.wustl.edu 37 2 88405936 88405936 + Silent SNP G G A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 2 88405936 88405936 G A SNP SMYD1 ENST00000419482 human ensembl 69_37n +1 known silent c.1074 p.S358 0.001 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 81 0 0.00 93 27 22.50 - - - SPHKAP 0 genome.wustl.edu 37 2 228882873 228882873 + Silent SNP G G T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 2 228882873 228882873 G T SNP SPHKAP ENST00000392056 human ensembl 69_37n -1 known silent c.2697 p.V899 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 129 0 0.00 151 54 26.34 - - - TESK2 0 genome.wustl.edu 37 1 45821107 45821107 + Silent SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 1 45821107 45821107 C T SNP TESK2 ENST00000372086 human ensembl 69_37n -1 known silent c.408 p.G136 0.996 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 70 0 0.00 80 24 23.08 - - - TGS1 0 genome.wustl.edu 37 8 56723652 56723652 + Missense_Mutation SNP G G C TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 8 56723652 56723652 G C SNP TGS1 ENST00000260129 human ensembl 69_37n +1 known missense c.2356 p.D786H 1.000 pfam_RNA_cap_Gua-N2-MeTrfase pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 123 0 0.00 107 45 29.41 - - - TP53 0 genome.wustl.edu 37 17 7578553 7578553 + Missense_Mutation SNP T T C TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 17 7578553 7578553 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.377 p.Y126C 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 34 0 0.00 24 22 47.83 - - - TTN 0 genome.wustl.edu 37 2 179527763 179527763 + Silent SNP C C T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 2 179527763 179527763 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.31503 p.P10501 0.001 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 80 0 0.00 94 21 18.26 - - - USP15 0 genome.wustl.edu 37 12 62749202 62749202 + Silent SNP C C G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 12 62749202 62749202 C G SNP USP15 ENST00000280377 human ensembl 69_37n +1 known silent c.861 p.G287 1.000 pfam_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP15 HGNC ENSG00000135655 110 0 0.00 104 33 24.09 - - - USP34 0 genome.wustl.edu 37 2 61575105 61575105 + Missense_Mutation SNP A A G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 2 61575105 61575105 A G SNP USP34 ENST00000398571 human ensembl 69_37n -1 known missense c.2185 p.F729L 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 67 0 0.00 67 26 27.96 - - - VRK3 0 genome.wustl.edu 37 19 50491661 50491661 + Silent SNP G G A TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 19 50491661 50491661 G A SNP VRK3 ENST00000316763 human ensembl 69_37n -1 known silent c.1185 p.P395 0.985 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,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,pfscan_Prot_kinase_cat_dom - no_errors VRK3 HGNC ENSG00000105053 72 0 0.00 105 27 20.45 - - - ZFYVE19 0 genome.wustl.edu 37 15 41099876 41099876 + Missense_Mutation SNP G G T TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 15 41099876 41099876 G T SNP ZFYVE19 ENST00000355341 human ensembl 69_37n +1 known missense c.89 p.G30V 0.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE19 HGNC ENSG00000166140 31 0 0.00 51 12 18.75 - - - ZNF331 0 genome.wustl.edu 37 19 54080627 54080627 + Nonsense_Mutation SNP C C G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c035023-8ea9-4504-8f03-9573745cb6ef 278795b3-a369-43fb-9d82-4d6d3b92ade3 19 54080627 54080627 C G SNP ZNF331 ENST00000253144 human ensembl 69_37n +1 known nonsense c.813 p.Y271* 0.010 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF331 HGNC ENSG00000130844 39 0 0.00 41 13 24.07 - - -