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 ACR 0 genome.wustl.edu 37 22 51183255 51183255 + Missense_Mutation SNP A A G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 22 51183255 51183255 A G SNP ACR ENST00000216139 human ensembl 69_37n +1 known missense c.886 p.M296V 0.001 pirsf_Pept_S1A_acrosin pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ACR HGNC ENSG00000100312 18 0 0.00 25 10 28.57 - - - ACSM5 0 genome.wustl.edu 37 16 20442562 20442562 + Silent SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 16 20442562 20442562 C T SNP ACSM5 ENST00000331849 human ensembl 69_37n +1 known silent c.1227 p.N409 0.043 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 45 0 0.00 73 9 10.98 - - - ADAM21P1 0 genome.wustl.edu 37 14 70713858 70713858 + RNA SNP T T C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 14 70713858 70713858 T C SNP ADAM21P1 ENST00000530196 human ensembl 69_37n -1 known rna NULL NULL 0.649 - - - no_errors ADAM21P1 HGNC ENSG00000235812 31 0 0.00 50 7 12.28 - - - ANKRD62P1-PARP4P3 0 genome.wustl.edu 37 22 17156061 17156061 + RNA SNP A A G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 22 17156061 17156061 A G SNP ANKRD62P1-PARP4P3 ENST00000338526 human ensembl 69_37n -1 known rna NULL NULL 0.007 - - - no_errors ANKRD62P1-PARP4P3 HGNC ENSG00000189295 41 0 0.00 40 6 13.04 - - - ARHGEF38 0 genome.wustl.edu 37 4 106580340 106580340 + Missense_Mutation SNP A A G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 4 106580340 106580340 A G SNP ARHGEF38 ENST00000420470 human ensembl 69_37n +1 putative missense c.1363 p.T455A 0.001 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ENSG00000236699 40 0 0.00 59 7 10.61 - - - BCORL1 0 genome.wustl.edu 37 X 129149548 129149548 + Missense_Mutation SNP G G T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 X 129149548 129149548 G T SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known missense c.2800 p.A934S 0.643 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 28 0 0.00 44 8 15.38 - - - BCORL1 0 genome.wustl.edu 37 X 129149549 129149549 + Missense_Mutation SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 X 129149549 129149549 C T SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known missense c.2801 p.A934V 0.623 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 28 0 0.00 43 7 13.73 - - - C1orf167 0 genome.wustl.edu 37 1 11838848 11838848 + Missense_Mutation SNP G G T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 1 11838848 11838848 G T SNP C1orf167 ENST00000433342 human ensembl 69_37n +1 known missense c.2543 p.S848I 0.000 NULL NULL - no_errors C1orf167 HGNC ENSG00000215910 36 0 0.00 42 6 12.50 - - - C6orf183 0 genome.wustl.edu 37 6 109517706 109517706 + RNA SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 6 109517706 109517706 G A SNP C6orf183 ENST00000417143 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors C6orf183 HGNC ENSG00000243587 50 0 0.00 47 10 16.95 - - - CCDC162P 0 genome.wustl.edu 37 6 109621494 109621494 + RNA SNP T T C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 6 109621494 109621494 T C SNP CCDC162P ENST00000422819 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CCDC162P HGNC ENSG00000203799 34 0 0.00 32 4 11.11 - - - CCZ1 0 genome.wustl.edu 37 7 5965334 5965334 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 7 5965334 5965334 C T SNP CCZ1 ENST00000496860 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CCZ1 HGNC ENSG00000122674 31 0 0.00 39 7 15.22 - - - CDH1 0 genome.wustl.edu 37 16 68862109 68862110 + Frame_Shift_Ins INS - - G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 16 68862109 68862110 - G INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.2197_2198 p.R734fs 0.999:1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 70 0 0.00 56 22 28.21 - - - CEP250 0 genome.wustl.edu 37 20 34062642 34062642 + Missense_Mutation SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 20 34062642 34062642 C T SNP CEP250 ENST00000425096 human ensembl 69_37n +1 novel missense c.76 p.R26C 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CEP250 HGNC ENSG00000126001 40 0 0.00 54 6 10.00 - - - COL6A5 0 genome.wustl.edu 37 3 130159281 130159283 + In_Frame_Del DEL CAC CAC - TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 3 130159281 130159283 CAC - DEL COL6A5 ENST00000265379 human ensembl 69_37n +1 known in_frame_del c.6099_6101 p.T2034in_frame_del 0.002:0.018:0.097 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 24 0 0.00 31 6 16.22 - - - CSE1L 0 genome.wustl.edu 37 20 47713063 47713063 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 20 47713063 47713063 C T SNP CSE1L ENST00000469700 human ensembl 69_37n +1 known rna NULL NULL 0.649 - - - no_errors CSE1L HGNC ENSG00000124207 26 0 0.00 17 4 19.05 - - - CSMD2 0 genome.wustl.edu 37 1 34025030 34025030 + Silent SNP A A G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 1 34025030 34025030 A G SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known silent c.8424 p.T2808 0.998 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 27 0 0.00 28 4 12.50 - - - CTNNA1 0 genome.wustl.edu 37 5 138118920 138118920 + Missense_Mutation SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 5 138118920 138118920 C T SNP CTNNA1 ENST00000302763 human ensembl 69_37n +1 known missense c.160 p.R54C 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 29 0 0.00 45 14 23.73 - - - CYP2G1P 0 genome.wustl.edu 37 19 41405962 41405962 + Missense_Mutation SNP T T G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 19 41405962 41405962 T G SNP CYP2G1P ENST00000252909 human ensembl 69_37n +1 known missense c.412 p.C138G 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_start_codon CYP2G1P HGNC ENSG00000130612 12 0 0.00 24 5 17.24 - - - DTX2P1 0 genome.wustl.edu 37 7 76629626 76629626 + Splice_Site SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 7 76629626 76629626 G A SNP DTX2P1 ENST00000425797 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.470 - - - no_coding_region:pseudogene DTX2P1 HGNC ENSG00000186704 35 0 0.00 32 4 11.11 - - - EIF2B3 0 genome.wustl.edu 37 1 45424509 45424509 + RNA SNP G G C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 1 45424509 45424509 G C SNP EIF2B3 ENST00000487532 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors EIF2B3 HGNC ENSG00000070785 26 0 0.00 35 9 20.00 - - - ENSG00000226232 0 genome.wustl.edu 37 16 70010517 70010519 + In_Frame_Del DEL TGT TGT - TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 16 70010517 70010519 TGT - DEL ENSG00000226232 ENST00000532298 human ensembl 69_37n -1 novel in_frame_del c.761_759 p.Q253in_frame_del 0.600:0.610:0.620 pfam_NPIP pfam_NPIP - no_errors RP11-419C5.2 Clone_based_vega_gene ENSG00000226232 13 0 0.00 7 6 46.15 - - - EPHA4 0 genome.wustl.edu 37 2 222282765 222282765 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 2 222282765 222282765 C T SNP EPHA4 ENST00000469354 human ensembl 69_37n -1 putative rna NULL NULL 1.000 - - - no_errors EPHA4 HGNC ENSG00000116106 30 0 0.00 43 5 10.42 - - - EPHA4 0 genome.wustl.edu 37 2 222282959 222282959 + RNA SNP G G T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 2 222282959 222282959 G T SNP EPHA4 ENST00000469354 human ensembl 69_37n -1 putative rna NULL NULL 0.516 - - - no_errors EPHA4 HGNC ENSG00000116106 25 0 0.00 24 5 17.24 - - - EPHA4 0 genome.wustl.edu 37 2 222283000 222283000 + RNA SNP A A T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 2 222283000 222283000 A T SNP EPHA4 ENST00000469354 human ensembl 69_37n -1 putative rna NULL NULL 1.000 - - - no_errors EPHA4 HGNC ENSG00000116106 22 0 0.00 22 6 21.43 - - - EPHA4 0 genome.wustl.edu 37 2 222283281 222283281 + RNA SNP T T C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 2 222283281 222283281 T C SNP EPHA4 ENST00000469354 human ensembl 69_37n -1 putative rna NULL NULL 0.938 - - - no_errors EPHA4 HGNC ENSG00000116106 19 0 0.00 20 5 20.00 - - - EPHA4 0 genome.wustl.edu 37 2 222284646 222284646 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 2 222284646 222284646 C T SNP EPHA4 ENST00000469354 human ensembl 69_37n -1 putative rna NULL NULL 0.003 - - - no_errors EPHA4 HGNC ENSG00000116106 21 0 0.00 23 9 28.12 - - - EPHA4 0 genome.wustl.edu 37 2 222284686 222284686 + RNA SNP G G C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 2 222284686 222284686 G C SNP EPHA4 ENST00000469354 human ensembl 69_37n -1 putative rna NULL NULL 0.994 - - - no_errors EPHA4 HGNC ENSG00000116106 22 0 0.00 23 6 20.00 - - - FAM99B 0 genome.wustl.edu 37 11 1705513 1705513 + RNA SNP C C G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 11 1705513 1705513 C G SNP FAM99B ENST00000382166 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors FAM99B HGNC ENSG00000205865 47 0 0.00 64 9 12.33 - - - FER1L4 0 genome.wustl.edu 37 20 34194243 34194243 + RNA SNP A A G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 20 34194243 34194243 A G SNP FER1L4 ENST00000426117 human ensembl 69_37n -1 known rna NULL NULL 0.916 - - - no_errors FER1L4 HGNC ENSG00000088340 29 0 0.00 34 4 10.26 - - - FOLH1 0 genome.wustl.edu 37 11 49204779 49204779 + Missense_Mutation SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 11 49204779 49204779 C T SNP FOLH1 ENST00000256999 human ensembl 69_37n -1 known missense c.842 p.R281H 0.843 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 53 0 0.00 42 7 14.29 - - - FOLH1 0 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 69_37n -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 48 0 0.00 45 8 15.09 - - - FRG1B 0 genome.wustl.edu 37 20 29624093 29624093 + Splice_Site SNP G G T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 20 29624093 29624093 G T SNP FRG1B ENST00000278882 human ensembl 69_37n +1 known splice_site c.116+1 e2+1 1.000 - - - no_errors FRG1B HGNC ENSG00000149531 36 0 0.00 34 8 19.05 - - - FRMPD2 0 genome.wustl.edu 37 10 49388901 49388901 + Missense_Mutation SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 10 49388901 49388901 C T SNP FRMPD2 ENST00000374201 human ensembl 69_37n -1 known missense c.2735 p.G912E 0.000 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 41 0 0.00 59 11 15.71 - - - FUCA2 0 genome.wustl.edu 37 6 143832677 143832677 + Missense_Mutation SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 6 143832677 143832677 G A SNP FUCA2 ENST00000002165 human ensembl 69_37n -1 known missense c.95 p.T32M 0.010 pfam_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC ENSG00000001036 32 0 0.00 30 8 21.05 - - - GABRQ 0 genome.wustl.edu 37 X 151821277 151821277 + Missense_Mutation SNP T T A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 X 151821277 151821277 T A SNP GABRQ ENST00000370306 human ensembl 69_37n +1 known missense c.1432 p.F478I 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 18 0 0.00 44 9 16.98 - - - GFM1 0 genome.wustl.edu 37 3 158367837 158367837 + Missense_Mutation SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 3 158367837 158367837 C T SNP GFM1 ENST00000264263 human ensembl 69_37n +1 novel missense c.733 p.R245C 0.000 pfam_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFG/EF2 pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 37 0 0.00 80 11 12.09 - - - GOLGA2 0 genome.wustl.edu 37 9 131020796 131020798 + In_Frame_Del DEL CCT CCT - TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 9 131020796 131020798 CCT - DEL GOLGA2 ENST00000421699 human ensembl 69_37n -1 known in_frame_del c.2146_2144 p.E715in_frame_del 0.000:0.000:0.004 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 29 0 0.00 20 4 16.67 - - - GVINP1 0 genome.wustl.edu 37 11 6738952 6738952 + RNA SNP G G T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 11 6738952 6738952 G T SNP GVINP1 ENST00000526769 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GVINP1 HGNC ENSG00000254838 21 0 0.00 30 6 16.67 - - - GVINP1 0 genome.wustl.edu 37 11 6740206 6740206 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 11 6740206 6740206 C T SNP GVINP1 ENST00000526769 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors GVINP1 HGNC ENSG00000254838 33 0 0.00 35 4 10.26 - - - HKDC1 0 genome.wustl.edu 37 10 71027231 71027231 + RNA SNP G G C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 10 71027231 71027231 G C SNP HKDC1 ENST00000486754 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors HKDC1 HGNC ENSG00000156510 78 0 0.00 95 11 10.38 - - - HLA-J 0 genome.wustl.edu 37 6 29975994 29975994 + RNA SNP C C A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 6 29975994 29975994 C A SNP HLA-J ENST00000462773 human ensembl 69_37n +1 known rna NULL NULL 0.018 - - - no_errors HLA-J HGNC ENSG00000204622 31 0 0.00 38 9 19.15 - - - HLA-J 0 genome.wustl.edu 37 6 29976024 29976024 + RNA SNP C C G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 6 29976024 29976024 C G SNP HLA-J ENST00000462773 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors HLA-J HGNC ENSG00000204622 30 0 0.00 40 9 18.37 - - - HYDIN 0 genome.wustl.edu 37 16 71015329 71015329 + Missense_Mutation SNP G G T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 16 71015329 71015329 G T SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.4472 p.P1491H 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 41 0 0.00 41 6 12.77 - - - IGHG4 0 genome.wustl.edu 37 14 106092383 106092383 + Silent SNP C C G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 14 106092383 106092383 C G SNP IGHG4 ENST00000390543 human ensembl 69_37n -1 known silent c.21 p.S7 0.271 pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHG4 HGNC ENSG00000211892 15 0 0.00 20 9 31.03 - - - IGLJ3 0 genome.wustl.edu 37 22 23247082 23247082 + Missense_Mutation SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 22 23247082 23247082 C T SNP IGLJ3 ENST00000390324 human ensembl 69_37n +1 known missense c.28 p.P10S 0.009 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region IGLJ3 HGNC ENSG00000211678 65 0 0.00 48 7 11.86 - - - IGLV5-48 0 genome.wustl.edu 37 22 22707309 22707309 + Silent SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 22 22707309 22707309 C T SNP IGLV5-48 ENST00000390293 human ensembl 69_37n +1 known silent c.21 p.L7 0.007 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGLV5-48 HGNC ENSG00000211647 54 0 0.00 44 5 10.20 - - - IMPACT 0 genome.wustl.edu 37 18 22028136 22028136 + Missense_Mutation SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 18 22028136 22028136 C T SNP IMPACT ENST00000284202 human ensembl 69_37n +1 known missense c.748 p.H250Y 1.000 pfam_Impact_N,superfamily_Ribosomal_S5_D2-typ_fold pfam_Impact_N,pfam_RWD-domain,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors IMPACT HGNC ENSG00000154059 51 0 0.00 44 18 29.03 - - - KLRF2 0 genome.wustl.edu 37 12 10046052 10046052 + Missense_Mutation SNP C C A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 12 10046052 10046052 C A SNP KLRF2 ENST00000535540 human ensembl 69_37n +1 known missense c.391 p.P131T 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRF2 HGNC ENSG00000256797 21 0 0.00 30 6 16.67 - - - KNCN 0 genome.wustl.edu 37 1 47013180 47013180 + RNA SNP A A G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 1 47013180 47013180 A G SNP KNCN ENST00000524908 human ensembl 69_37n -1 putative rna NULL NULL 0.001 - - - no_errors KNCN HGNC ENSG00000162456 39 0 0.00 37 5 11.90 - - - LINC00152 0 genome.wustl.edu 37 2 87755101 87755101 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 2 87755101 87755101 C T SNP LINC00152 ENST00000409054 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors LINC00152 HGNC ENSG00000222041 46 0 0.00 47 12 20.34 - - - LINC00243 0 genome.wustl.edu 37 6 30782235 30782235 + RNA SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 6 30782235 30782235 G A SNP LINC00243 ENST00000399196 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors LINC00243 HGNC ENSG00000214894 45 0 0.00 56 9 13.85 - - - LOXL1 0 genome.wustl.edu 37 15 74244344 74244344 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 15 74244344 74244344 C T SNP LOXL1 ENST00000567675 human ensembl 69_37n +1 known rna NULL NULL 0.103 - - - no_errors LOXL1 HGNC ENSG00000129038 53 0 0.00 47 8 14.55 - - - MAGEA12 0 genome.wustl.edu 37 X 151900503 151900503 + Missense_Mutation SNP C C G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 X 151900503 151900503 C G SNP MAGEA12 ENST00000357916 human ensembl 69_37n -1 known missense c.298 p.D100H 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 64 0 0.00 66 18 21.18 - - - MBNL2 0 genome.wustl.edu 37 13 97995412 97995412 + Missense_Mutation SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 13 97995412 97995412 C T SNP MBNL2 ENST00000376673 human ensembl 69_37n +1 known missense c.482 p.P161L 0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 42 0 0.00 48 6 11.11 - - - MED21 0 genome.wustl.edu 37 12 27181513 27181513 + RNA SNP T T G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 12 27181513 27181513 T G SNP MED21 ENST00000536503 human ensembl 69_37n +1 known rna NULL NULL 0.012 - - - no_errors MED21 HGNC ENSG00000152944 36 0 0.00 39 6 13.04 - - - MLC1 0 genome.wustl.edu 37 22 50506877 50506877 + Nonsense_Mutation SNP G G T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 22 50506877 50506877 G T SNP MLC1 ENST00000311597 human ensembl 69_37n -1 known nonsense c.879 p.Y293* 0.999 NULL NULL - no_errors MLC1 HGNC ENSG00000100427 38 0 0.00 25 7 21.88 - - - MLIP 0 genome.wustl.edu 37 6 54002231 54002231 + Missense_Mutation SNP A A C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 6 54002231 54002231 A C SNP MLIP ENST00000502396 human ensembl 69_37n +1 putative missense c.1364 p.E455A 0.002 NULL NULL - no_errors MLIP HGNC ENSG00000146147 20 0 0.00 28 5 15.15 - - - MMP25 0 genome.wustl.edu 37 16 3097494 3097494 + Missense_Mutation SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 16 3097494 3097494 G A SNP MMP25 ENST00000336577 human ensembl 69_37n +1 known missense c.178 p.D60N 0.475 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP25 HGNC ENSG00000008516 65 0 0.00 108 37 25.52 - - - MRGPRG-AS1 0 genome.wustl.edu 37 11 3243346 3243346 + Missense_Mutation SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 11 3243346 3243346 C T SNP MRGPRG-AS1 ENST00000420873 human ensembl 69_37n +1 known missense c.404 p.S135F 0.029 NULL NULL - no_errors MRGPRG-AS1 HGNC ENSG00000236301 28 0 0.00 36 4 10.00 - - - MT1P3 0 genome.wustl.edu 37 20 33864484 33864484 + RNA SNP A A G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 20 33864484 33864484 A G SNP MT1P3 ENST00000435366 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MT1P3 HGNC ENSG00000126005 25 0 0.00 36 4 10.00 - - - MTX1 0 genome.wustl.edu 37 1 155181843 155181843 + RNA SNP G G T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 1 155181843 155181843 G T SNP MTX1 ENST00000481771 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MTX1 HGNC ENSG00000173171 38 0 0.00 58 7 10.77 - - - MYO15B 0 genome.wustl.edu 37 17 73609112 73609112 + Missense_Mutation SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 17 73609112 73609112 G A SNP MYO15B ENST00000578462 human ensembl 69_37n +1 putative missense c.346 p.A116T 0.001 pfscan_MyTH4_dom pfscan_MyTH4_dom - no_stop_codon:bad_bp_length_for_coding_region MYO15B Clone_based_vega_gene ENSG00000266714 31 0 0.00 34 5 12.82 - - - NF1 0 genome.wustl.edu 37 17 29527590 29527590 + Nonsense_Mutation SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 17 29527590 29527590 C T SNP NF1 ENST00000358273 human ensembl 69_37n +1 known nonsense c.1039 p.Q347* 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 56 0 0.00 50 12 19.35 - - - NPAS2 0 genome.wustl.edu 37 2 101437561 101437561 + Missense_Mutation SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 2 101437561 101437561 G A SNP NPAS2 ENST00000542504 human ensembl 69_37n +1 known missense c.73 p.E25K 0.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 34 0 0.00 54 6 10.00 - - - NPAS2 0 genome.wustl.edu 37 2 101437601 101437601 + Missense_Mutation SNP C C G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 2 101437601 101437601 C G SNP NPAS2 ENST00000542504 human ensembl 69_37n +1 known missense c.113 p.T38S 0.011 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 28 0 0.00 58 10 14.71 - - - OLFML3 0 genome.wustl.edu 37 1 114523105 114523105 + Missense_Mutation SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 1 114523105 114523105 G A SNP OLFML3 ENST00000320334 human ensembl 69_37n +1 known missense c.266 p.R89H 1.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML3 HGNC ENSG00000116774 31 0 0.00 37 9 19.57 - - - OPA1 0 genome.wustl.edu 37 3 193386239 193386239 + Silent SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 3 193386239 193386239 C T SNP OPA1 ENST00000429164 human ensembl 69_37n +1 putative silent c.222 p.P74 0.001 NULL NULL - no_start_codon:pseudogene:no_stop_codon OPA1 HGNC ENSG00000198836 47 0 0.00 70 10 12.50 - - - OVOL2 0 genome.wustl.edu 37 20 18005113 18005113 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 20 18005113 18005113 C T SNP OVOL2 ENST00000483661 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors OVOL2 HGNC ENSG00000125850 13 0 0.00 12 5 29.41 - - - PCLO 0 genome.wustl.edu 37 7 82578885 82578885 + Silent SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 7 82578885 82578885 C T SNP PCLO ENST00000333891 human ensembl 69_37n -1 known silent c.11019 p.K3673 1.000 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 40 0 0.00 25 8 24.24 - - - PGAM1P5 0 genome.wustl.edu 37 12 96067161 96067161 + RNA SNP G G T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 12 96067161 96067161 G T SNP PGAM1P5 ENST00000552554 human ensembl 69_37n +1 known rna NULL NULL 0.345 - - - no_errors PGAM1P5 HGNC ENSG00000257150 31 0 0.00 25 6 18.75 - - - PI16 0 genome.wustl.edu 37 6 36929296 36929296 + Missense_Mutation SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 6 36929296 36929296 G A SNP PI16 ENST00000373674 human ensembl 69_37n +1 known missense c.463 p.E155K 0.009 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 26 0 0.00 47 11 18.97 - - - PIK3C2G 0 genome.wustl.edu 37 12 18435399 18435401 + In_Frame_Del DEL CCC CCC - TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 CCC CCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 12 18435399 18435401 CCC - DEL PIK3C2G ENST00000538779 human ensembl 69_37n +1 known in_frame_del c.384_386 p.P129in_frame_del 0.001:0.000:0.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 33 0 0.00 48 7 12.73 - - - PIK3CA 0 genome.wustl.edu 37 3 178922324 178922324 + Missense_Mutation SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 3 178922324 178922324 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1093 p.E365K 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_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 42 0 0.00 64 10 13.51 - - - PRIC285 0 genome.wustl.edu 37 20 62202632 62202632 + RNA SNP A A G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 20 62202632 62202632 A G SNP PRIC285 ENST00000479540 human ensembl 69_37n -1 known rna NULL NULL 0.992 - - - no_errors RP4-697K14.7 Clone_based_vega_gene ENSG00000130589 29 0 0.00 37 7 15.91 - - - PRSS3P3 0 genome.wustl.edu 37 7 141988676 141988676 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 7 141988676 141988676 C T SNP PRSS3P3 ENST00000463748 human ensembl 69_37n -1 known rna NULL NULL 0.041 - - - no_errors PRSS3P3 HGNC ENSG00000242115 36 0 0.00 51 6 10.53 - - - PTPN14 0 genome.wustl.edu 37 1 214705676 214705676 + RNA SNP A A C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 1 214705676 214705676 A C SNP PTPN14 ENST00000491277 human ensembl 69_37n -1 putative rna NULL NULL 0.344 - - - no_errors PTPN14 HGNC ENSG00000152104 23 0 0.00 34 5 12.82 - - - PTPN21 0 genome.wustl.edu 37 14 89016855 89016855 + RNA SNP G G T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 14 89016855 89016855 G T SNP PTPN21 ENST00000554628 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PTPN21 HGNC ENSG00000070778 15 0 0.00 28 8 22.22 - - - RAB13 0 genome.wustl.edu 37 1 153954778 153954779 + RNA INS - - AC TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 1 153954778 153954779 - AC INS RAB13 ENST00000462680 human ensembl 69_37n -1 known rna NULL NULL 0.000:0.000 - - - no_errors RAB13 HGNC ENSG00000143545 18 0 0.00 34 6 15.00 - - - RAI1 0 genome.wustl.edu 37 17 17698429 17698429 + Missense_Mutation SNP A A G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 17 17698429 17698429 A G SNP RAI1 ENST00000353383 human ensembl 69_37n +1 known missense c.2167 p.T723A 0.001 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 33 0 0.00 34 4 10.53 - - - RFX8 0 genome.wustl.edu 37 2 102067083 102067083 + Missense_Mutation SNP T T C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 2 102067083 102067083 T C SNP RFX8 ENST00000376826 human ensembl 69_37n -1 known missense c.320 p.Y107C 0.998 NULL pfam_DNA-bd_RFX - no_errors RFX8 HGNC ENSG00000196460 26 0 0.00 45 6 11.76 - - - RHOA 0 genome.wustl.edu 37 3 49413010 49413010 + Missense_Mutation SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 3 49413010 49413010 G A SNP RHOA ENST00000418115 human ensembl 69_37n -1 known missense c.13 p.R5W 0.997 tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 24 0 0.00 41 12 22.64 - - - RNA5SP22 0 genome.wustl.edu 37 1 78560583 78560583 + RNA SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 1 78560583 78560583 G A SNP RNA5SP22 ENST00000365393 human ensembl 69_37n -1 known rna NULL NULL 0.496 - - - no_errors RNA5SP22 HGNC ENSG00000202263 28 0 0.00 31 4 11.11 - - - RNF44 0 genome.wustl.edu 37 5 175956177 175956177 + Missense_Mutation SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 5 175956177 175956177 G A SNP RNF44 ENST00000506378 human ensembl 69_37n -1 putative missense c.611 p.P204L 0.000 smart_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RNF44 HGNC ENSG00000146083 20 0 0.00 33 6 15.00 - - - RP11-165H20.1 0 genome.wustl.edu 37 1 111826007 111826007 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 1 111826007 111826007 C T SNP RP11-165H20.1 ENST00000369743 human ensembl 69_37n +1 known rna NULL NULL 0.913 - - - no_errors RP11-165H20.1 Clone_based_vega_gene ENSG00000203878 33 0 0.00 28 4 12.50 - - - RPL13AP3 0 genome.wustl.edu 37 14 56232970 56232970 + RNA SNP T T C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 14 56232970 56232970 T C SNP RPL13AP3 ENST00000494676 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RPL13AP3 HGNC ENSG00000177350 23 0 0.00 29 10 25.64 - - - RPL13AP3 0 genome.wustl.edu 37 14 56233260 56233260 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 14 56233260 56233260 C T SNP RPL13AP3 ENST00000494676 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RPL13AP3 HGNC ENSG00000177350 29 0 0.00 49 6 10.91 - - - SCN9A 0 genome.wustl.edu 37 2 167085365 167085365 + Missense_Mutation SNP A A G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 2 167085365 167085365 A G SNP SCN9A ENST00000303354 human ensembl 69_37n -1 known missense c.4045 p.Y1349H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 35 0 0.00 40 7 14.89 - - - SLC24A4 0 genome.wustl.edu 37 14 92959228 92959228 + Missense_Mutation SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 14 92959228 92959228 G A SNP SLC24A4 ENST00000525557 human ensembl 69_37n +1 putative missense c.1370 p.R457K 0.000 NULL pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SLC24A4 HGNC ENSG00000140090 33 0 0.00 31 4 11.43 - - - SMG7 0 genome.wustl.edu 37 1 183511476 183511476 + Missense_Mutation SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 1 183511476 183511476 G A SNP SMG7 ENST00000507469 human ensembl 69_37n +1 known missense c.1681 p.G561R 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 14 0 0.00 19 8 29.63 - - - SMPD4P1 0 genome.wustl.edu 37 22 20977077 20977077 + RNA SNP C C A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 22 20977077 20977077 C A SNP SMPD4P1 ENST00000443839 human ensembl 69_37n -1 known rna NULL NULL 0.006 - - - no_errors SMPD4P1 HGNC ENSG00000223553 30 0 0.00 35 5 12.50 - - - STK3 0 genome.wustl.edu 37 8 99895940 99895940 + Silent SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 8 99895940 99895940 G A SNP STK3 ENST00000523601 human ensembl 69_37n -1 putative silent c.45 p.N15 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom - no_errors STK3 HGNC ENSG00000104375 22 0 0.00 27 4 12.90 - - - STPG1 0 genome.wustl.edu 37 1 24684116 24684116 + RNA SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 1 24684116 24684116 G A SNP STPG1 ENST00000468303 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors STPG1 HGNC ENSG00000001460 23 0 0.00 28 4 12.50 - - - TBCD 0 genome.wustl.edu 37 17 80895745 80895745 + Missense_Mutation SNP T T C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 17 80895745 80895745 T C SNP TBCD ENST00000539345 human ensembl 69_37n +1 novel missense c.3305 p.V1102A 0.001 NULL pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 45 0 0.00 51 7 12.07 - - - TCEANC 0 genome.wustl.edu 37 X 13682577 13682577 + RNA SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 X 13682577 13682577 G A SNP TCEANC ENST00000490617 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TCEANC HGNC ENSG00000176896 44 0 0.00 75 10 11.63 - - - TLR1 0 genome.wustl.edu 37 4 38798935 38798935 + Silent SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 4 38798935 38798935 C T SNP TLR1 ENST00000308979 human ensembl 69_37n -1 known silent c.1518 p.S506 0.002 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 57 0 0.00 93 12 11.32 - - - TRIL 0 genome.wustl.edu 37 7 28997765 28997765 + RNA SNP C C G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 7 28997765 28997765 C G SNP TRIL ENST00000322982 human ensembl 69_37n -1 known rna NULL NULL 0.986 - - - no_errors TRIL HGNC ENSG00000176734 33 0 0.00 58 8 12.12 - - - TRIM34 0 genome.wustl.edu 37 11 5655085 5655085 + Missense_Mutation SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 11 5655085 5655085 G A SNP TRIM34 ENST00000337072 human ensembl 69_37n +1 known missense c.1537 p.E513K 0.987 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM34 HGNC ENSG00000258659 27 0 0.00 27 4 12.90 - - - TUBA3FP 0 genome.wustl.edu 37 22 21363306 21363306 + RNA SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 22 21363306 21363306 G A SNP TUBA3FP ENST00000292748 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 52 0 0.00 60 7 10.45 - - - UBE2Q2P1 0 genome.wustl.edu 37 15 85113662 85113662 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 15 85113662 85113662 C T SNP UBE2Q2P1 ENST00000339094 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors UBE2Q2P1 HGNC ENSG00000189136 8 0 0.00 9 12 57.14 - - - UGP2 0 genome.wustl.edu 37 2 64084005 64084005 + RNA SNP G G A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 2 64084005 64084005 G A SNP UGP2 ENST00000495020 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors UGP2 HGNC ENSG00000169764 38 0 0.00 66 11 14.29 - - - VNN3 0 genome.wustl.edu 37 6 133052666 133052666 + Missense_Mutation SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 6 133052666 133052666 C T SNP VNN3 ENST00000544102 human ensembl 69_37n -1 known missense c.82 p.E28K 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VNN3 HGNC ENSG00000093134 33 0 0.00 32 10 23.81 - - - XRRA1 0 genome.wustl.edu 37 11 74660143 74660143 + RNA SNP G G C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 11 74660143 74660143 G C SNP XRRA1 ENST00000524430 human ensembl 69_37n -1 known rna NULL NULL 0.794 - - - no_errors XRRA1 HGNC ENSG00000166435 14 0 0.00 25 5 16.67 - - - ZNF440 0 genome.wustl.edu 37 19 11941221 11941221 + Missense_Mutation SNP T T A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 19 11941221 11941221 T A SNP ZNF440 ENST00000304060 human ensembl 69_37n +1 known missense c.127 p.L43I 0.116 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF440 HGNC ENSG00000171295 70 0 0.00 79 12 13.04 - - - ZNF518A 0 genome.wustl.edu 37 10 97922576 97922576 + RNA SNP A A G TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 10 97922576 97922576 A G SNP ZNF518A ENST00000534948 human ensembl 69_37n +1 known rna NULL NULL 0.009 - - - no_errors ZNF518A HGNC ENSG00000177853 26 0 0.00 34 4 10.53 - - - ZNRD1-AS1 0 genome.wustl.edu 37 6 30025285 30025285 + RNA SNP C C T TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 6 30025285 30025285 C T SNP ZNRD1-AS1 ENST00000421692 human ensembl 69_37n -1 known rna NULL NULL 0.009 - - - no_errors ZNRD1-AS1 HGNC ENSG00000204623 42 0 0.00 51 6 10.53 - - - ZRSR1 0 genome.wustl.edu 37 5 112228765 112228765 + Missense_Mutation SNP C C A TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 5 112228765 112228765 C A SNP ZRSR1 ENST00000391338 human ensembl 69_37n +1 known missense c.1429 p.Q477K 0.280 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC ENSG00000212643 25 0 0.00 42 6 12.50 - - - ZSCAN5C 0 genome.wustl.edu 37 19 56719405 56719405 + Missense_Mutation SNP A A C TCGA-AC-A3TM-01A-11D-A228-09 TCGA-AC-A3TM-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e0b7762d-2e9b-4101-b3b8-475d663ebde0 31bb4a32-703d-4924-aa46-216902820061 19 56719405 56719405 A C SNP ZSCAN5C ENST00000376267 human ensembl 69_37n +1 known missense c.591 p.E197D 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5C HGNC ENSG00000204532 46 0 0.00 72 14 16.28 - - -