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 ALK 0 genome.wustl.edu 37 2 29917810 29917810 + Silent SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 2 29917810 29917810 C T SNP ALK ENST00000389048 human ensembl 69_37n -1 known silent c.858 p.Q286 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,pfscan_MAM_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 98 0 0.00 99 34 25.56 - - - ALK 0 genome.wustl.edu 37 2 29917810 29917810 + Silent SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 2 29917810 29917810 C T SNP ALK ENST00000389048 human ensembl 69_37n -1 known silent c.858 p.Q286 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,pfscan_MAM_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 187 0 0.00 99 34 25.56 - - - APOB 0 genome.wustl.edu 37 2 21236250 21236250 + Missense_Mutation SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 2 21236250 21236250 C T SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.3998 p.R1333Q 0.007 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 213 0 0.00 198 105 34.54 - - - APOB 0 genome.wustl.edu 37 2 21236250 21236250 + Missense_Mutation SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 2 21236250 21236250 C T SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.3998 p.R1333Q 0.007 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 263 1 0.38 198 105 34.54 - - - ARHGAP1 0 genome.wustl.edu 37 11 46709754 46709755 + Frame_Shift_Ins INS - - G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 11 46709754 46709755 - G INS ARHGAP1 ENST00000311956 human ensembl 69_37n -1 known frame_shift_ins c.286_285 p.S95fs 0.881:0.320 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 19 0 0.00 13 3 18.75 - - - ARHGAP1 0 genome.wustl.edu 37 11 46709754 46709755 + Frame_Shift_Ins INS - - G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 11 46709754 46709755 - G INS ARHGAP1 ENST00000311956 human ensembl 69_37n -1 known frame_shift_ins c.286_285 p.S95fs 0.881:0.320 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 30 0 0.00 13 3 18.75 - - - CHD4 0 genome.wustl.edu 37 12 6702280 6702280 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 12 6702280 6702280 G A SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.2629 p.R877W 0.999 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 198 1 0.50 184 81 30.57 - - - CHD4 0 genome.wustl.edu 37 12 6702280 6702280 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 12 6702280 6702280 G A SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.2629 p.R877W 0.999 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 453 0 0.00 184 81 30.57 - - - DCAF8L2 0 genome.wustl.edu 37 X 27765579 27765579 + Silent SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 X 27765579 27765579 C T SNP DCAF8L2 ENST00000451261 human ensembl 69_37n +1 known silent c.567 p.V189 0.007 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 53 0 0.00 6 5 45.45 - - - DDR2 0 genome.wustl.edu 37 1 162731228 162731228 + Missense_Mutation SNP G G C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 1 162731228 162731228 G C SNP DDR2 ENST00000367921 human ensembl 69_37n +1 known missense c.1083 p.E361D 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 70 0 0.00 183 40 17.94 - - - DDR2 0 genome.wustl.edu 37 1 162731228 162731228 + Missense_Mutation SNP G G C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 1 162731228 162731228 G C SNP DDR2 ENST00000367921 human ensembl 69_37n +1 known missense c.1083 p.E361D 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 129 0 0.00 183 40 17.94 - - - DDX49 0 genome.wustl.edu 37 19 19031392 19031392 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 19 19031392 19031392 G A SNP DDX49 ENST00000247003 human ensembl 69_37n +1 known missense c.119 p.R40Q 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX49 HGNC ENSG00000105671 24 0 0.00 18 8 29.63 - - - DDX49 0 genome.wustl.edu 37 19 19031392 19031392 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 19 19031392 19031392 G A SNP DDX49 ENST00000247003 human ensembl 69_37n +1 known missense c.119 p.R40Q 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX49 HGNC ENSG00000105671 52 0 0.00 18 8 29.63 - - - DGKG 0 genome.wustl.edu 37 3 185985540 185985540 + Silent SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 3 185985540 185985540 C T SNP DGKG ENST00000265022 human ensembl 69_37n -1 known silent c.1143 p.T381 0.005 smart_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 106 0 0.00 69 29 29.29 - - - DGKG 0 genome.wustl.edu 37 3 185985540 185985540 + Silent SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 3 185985540 185985540 C T SNP DGKG ENST00000265022 human ensembl 69_37n -1 known silent c.1143 p.T381 0.005 smart_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 123 1 0.81 69 29 29.29 - - - ESYT2 0 genome.wustl.edu 37 7 158552764 158552764 + Silent SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 7 158552764 158552764 C T SNP ESYT2 ENST00000251527 human ensembl 69_37n -1 known silent c.1452 p.A484 0.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ENSG00000117868 107 0 0.00 108 44 28.95 - - - ESYT2 0 genome.wustl.edu 37 7 158552764 158552764 + Silent SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 7 158552764 158552764 C T SNP ESYT2 ENST00000251527 human ensembl 69_37n -1 known silent c.1452 p.A484 0.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ENSG00000117868 140 0 0.00 108 44 28.95 - - - HOXD11 0 genome.wustl.edu 37 2 176973637 176973638 + Frame_Shift_Ins INS - - C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 2 176973637 176973638 - C INS HOXD11 ENST00000249504 human ensembl 69_37n +1 known frame_shift_ins c.784_785 p.Q264fs 0.999:1.000 superfamily_Homeodomain-like,pfscan_Homeodomain pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD11 HGNC ENSG00000128713 101 0 0.00 40 5 11.11 - - - HRNR 0 genome.wustl.edu 37 1 152186699 152186699 + Missense_Mutation SNP T T A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 1 152186699 152186699 T A SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.7406 p.Q2469L 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 32 0 0.00 24 5 17.24 - - - IL24 0 genome.wustl.edu 37 1 207076353 207076354 + Frame_Shift_Ins INS - - G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 1 207076353 207076354 - G INS IL24 ENST00000294984 human ensembl 69_37n +1 known frame_shift_ins c.570_571 p.E191fs 0.996:1.000 superfamily_4_helix_cytokine-like_core,prints_Interleukin-24 superfamily_4_helix_cytokine-like_core,prints_Interleukin-24 - no_errors IL24 HGNC ENSG00000162892 93 0 0.00 184 23 11.11 - - - IL24 0 genome.wustl.edu 37 1 207076353 207076354 + Frame_Shift_Ins INS - - G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 1 207076353 207076354 - G INS IL24 ENST00000294984 human ensembl 69_37n +1 known frame_shift_ins c.570_571 p.E191fs 0.996:1.000 superfamily_4_helix_cytokine-like_core,prints_Interleukin-24 superfamily_4_helix_cytokine-like_core,prints_Interleukin-24 - no_errors IL24 HGNC ENSG00000162892 243 0 0.00 184 23 11.11 - - - ISM2 0 genome.wustl.edu 37 14 77948868 77948868 + Missense_Mutation SNP T T C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 14 77948868 77948868 T C SNP ISM2 ENST00000342219 human ensembl 69_37n -1 known missense c.770 p.E257G 0.964 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC ENSG00000100593 61 0 0.00 51 10 16.39 - - - ISM2 0 genome.wustl.edu 37 14 77948868 77948868 + Missense_Mutation SNP T T C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 14 77948868 77948868 T C SNP ISM2 ENST00000342219 human ensembl 69_37n -1 known missense c.770 p.E257G 0.964 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC ENSG00000100593 69 0 0.00 51 10 16.39 - - - ITGA11 0 genome.wustl.edu 37 15 68631959 68631959 + Silent SNP G G T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 15 68631959 68631959 G T SNP ITGA11 ENST00000315757 human ensembl 69_37n -1 known silent c.1155 p.V385 0.014 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 50 0 0.00 22 11 33.33 - - - KRT71 0 genome.wustl.edu 37 12 52940265 52940265 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 12 52940265 52940265 G A SNP KRT71 ENST00000267119 human ensembl 69_37n -1 known missense c.1130 p.A377V 0.026 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 43 0 0.00 18 15 45.45 - - - KRT71 0 genome.wustl.edu 37 12 52940265 52940265 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 12 52940265 52940265 G A SNP KRT71 ENST00000267119 human ensembl 69_37n -1 known missense c.1130 p.A377V 0.026 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 162 0 0.00 18 15 45.45 - - - MAPK3 0 genome.wustl.edu 37 16 30129759 30129759 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 16 30129759 30129759 G A SNP MAPK3 ENST00000263025 human ensembl 69_37n -1 known missense c.454 p.R152W 1.000 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_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,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK3 HGNC ENSG00000102882 52 0 0.00 24 14 36.84 - - - MAPK3 0 genome.wustl.edu 37 16 30129759 30129759 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 16 30129759 30129759 G A SNP MAPK3 ENST00000263025 human ensembl 69_37n -1 known missense c.454 p.R152W 1.000 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_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,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK3 HGNC ENSG00000102882 90 0 0.00 24 14 36.84 - - - MTHFD1L 0 genome.wustl.edu 37 6 151247259 151247259 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 6 151247259 151247259 G A SNP MTHFD1L ENST00000367321 human ensembl 69_37n +1 known missense c.1084 p.D362N 1.000 pfam_Formate_THF_ligase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 115 0 0.00 112 42 27.27 - - - MTHFD1L 0 genome.wustl.edu 37 6 151247259 151247259 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 6 151247259 151247259 G A SNP MTHFD1L ENST00000367321 human ensembl 69_37n +1 known missense c.1084 p.D362N 1.000 pfam_Formate_THF_ligase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 240 0 0.00 112 42 27.27 - - - NCAPD2 0 genome.wustl.edu 37 12 6630248 6630248 + Silent SNP C C G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 12 6630248 6630248 C G SNP NCAPD2 ENST00000315579 human ensembl 69_37n +1 known silent c.1686 p.L562 0.649 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 66 0 0.00 48 17 26.15 - - - NCAPD2 0 genome.wustl.edu 37 12 6630248 6630248 + Silent SNP C C G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 12 6630248 6630248 C G SNP NCAPD2 ENST00000315579 human ensembl 69_37n +1 known silent c.1686 p.L562 0.649 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 80 0 0.00 48 17 26.15 - - - OR8H2 0 genome.wustl.edu 37 11 55872938 55872938 + Silent SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 11 55872938 55872938 C T SNP OR8H2 ENST00000313503 human ensembl 69_37n +1 known silent c.420 p.L140 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 258 0 0.00 327 155 32.16 - - - OR8H2 0 genome.wustl.edu 37 11 55872938 55872938 + Silent SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 11 55872938 55872938 C T SNP OR8H2 ENST00000313503 human ensembl 69_37n +1 known silent c.420 p.L140 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 584 0 0.00 327 155 32.16 - - - OSCP1 0 genome.wustl.edu 37 1 36915874 36915874 + Missense_Mutation SNP C C G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 1 36915874 36915874 C G SNP OSCP1 ENST00000235532 human ensembl 69_37n -1 known missense c.97 p.D33H 1.000 pfam_OSCP1 pfam_OSCP1 - no_errors OSCP1 HGNC ENSG00000116885 68 0 0.00 24 16 39.02 - - - PCNXL2 0 genome.wustl.edu 37 1 233344363 233344363 + Missense_Mutation SNP C C G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 1 233344363 233344363 C G SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.2764 p.D922H 1.000 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 90 0 0.00 217 62 22.22 - - - PCNXL2 0 genome.wustl.edu 37 1 233344363 233344363 + Missense_Mutation SNP C C G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 1 233344363 233344363 C G SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.2764 p.D922H 1.000 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 155 0 0.00 217 62 22.22 - - - PPARGC1A 0 genome.wustl.edu 37 4 23814725 23814725 + Missense_Mutation SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 4 23814725 23814725 C T SNP PPARGC1A ENST00000264867 human ensembl 69_37n -1 known missense c.1817 p.S606N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 156 0 0.00 159 79 33.19 - - - PPARGC1A 0 genome.wustl.edu 37 4 23814725 23814725 + Missense_Mutation SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 4 23814725 23814725 C T SNP PPARGC1A ENST00000264867 human ensembl 69_37n -1 known missense c.1817 p.S606N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 310 0 0.00 159 79 33.19 - - - SEPT10 0 genome.wustl.edu 37 2 110301779 110301779 + Missense_Mutation SNP A A C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 2 110301779 110301779 A C SNP SEPT10 ENST00000356688 human ensembl 69_37n -1 putative missense c.1555 p.F519V 0.348 NULL pfam_Cell_div_GTP-bd - no_errors SEPT10 HGNC ENSG00000186522 26 0 0.00 31 16 34.04 - - - SERPINC1 0 genome.wustl.edu 37 1 173886366 173886366 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 1 173886366 173886366 G A SNP SERPINC1 ENST00000367698 human ensembl 69_37n -1 known missense c.32 p.S11F 0.001 NULL pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINC1 HGNC ENSG00000117601 78 0 0.00 120 25 17.24 - - - SERPINC1 0 genome.wustl.edu 37 1 173886366 173886366 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 1 173886366 173886366 G A SNP SERPINC1 ENST00000367698 human ensembl 69_37n -1 known missense c.32 p.S11F 0.001 NULL pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINC1 HGNC ENSG00000117601 116 0 0.00 120 25 17.24 - - - SIM1 0 genome.wustl.edu 37 6 100897266 100897266 + Silent SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 6 100897266 100897266 G A SNP SIM1 ENST00000262901 human ensembl 69_37n -1 known silent c.516 p.N172 0.816 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors SIM1 HGNC ENSG00000112246 29 0 0.00 17 13 43.33 - - - SIM1 0 genome.wustl.edu 37 6 100897266 100897266 + Silent SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 6 100897266 100897266 G A SNP SIM1 ENST00000262901 human ensembl 69_37n -1 known silent c.516 p.N172 0.816 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors SIM1 HGNC ENSG00000112246 33 0 0.00 17 13 43.33 - - - TAS2R10 0 genome.wustl.edu 37 12 10978407 10978407 + Nonsense_Mutation SNP A A C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 12 10978407 10978407 A C SNP TAS2R10 ENST00000240619 human ensembl 69_37n -1 known nonsense c.462 p.Y154* 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R10 HGNC ENSG00000121318 124 0 0.00 189 31 13.96 - - - TAS2R10 0 genome.wustl.edu 37 12 10978407 10978407 + Nonsense_Mutation SNP A A C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 12 10978407 10978407 A C SNP TAS2R10 ENST00000240619 human ensembl 69_37n -1 known nonsense c.462 p.Y154* 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R10 HGNC ENSG00000121318 234 0 0.00 189 31 13.96 - - - TLR7 0 genome.wustl.edu 37 X 12903835 12903835 + Missense_Mutation SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f X 12903835 12903835 C T SNP TLR7 ENST00000380659 human ensembl 69_37n +1 known missense c.208 p.L70F 1.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 402 0 0.00 383 183 32.28 - - - TLR7 0 genome.wustl.edu 37 X 12903835 12903835 + Missense_Mutation SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 X 12903835 12903835 C T SNP TLR7 ENST00000380659 human ensembl 69_37n +1 known missense c.208 p.L70F 1.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 747 1 0.13 383 183 32.28 - - - TMEM106A 0 genome.wustl.edu 37 17 41368593 41368593 + Silent SNP T T C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 17 41368593 41368593 T C SNP TMEM106A ENST00000331615 human ensembl 69_37n +1 known silent c.555 p.P185 1.000 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106A HGNC ENSG00000184988 232 1 0.43 124 77 38.31 - - - TMEM167A 0 genome.wustl.edu 37 5 82352947 82352947 + Missense_Mutation SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 5 82352947 82352947 C T SNP TMEM167A ENST00000502346 human ensembl 69_37n -1 known missense c.175 p.V59I 0.023 NULL pfam_DUF1242 - no_errors TMEM167A HGNC ENSG00000174695 75 0 0.00 100 28 21.88 - - - TMEM167A 0 genome.wustl.edu 37 5 82352947 82352947 + Missense_Mutation SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 5 82352947 82352947 C T SNP TMEM167A ENST00000502346 human ensembl 69_37n -1 known missense c.175 p.V59I 0.023 NULL pfam_DUF1242 - no_errors TMEM167A HGNC ENSG00000174695 136 0 0.00 100 28 21.88 - - - UBR4 0 genome.wustl.edu 37 1 19468234 19468234 + Missense_Mutation SNP C C G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 1 19468234 19468234 C G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.8217 p.E2739D 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 104 0 0.00 96 53 35.57 - - - UBR4 0 genome.wustl.edu 37 1 19468234 19468234 + Missense_Mutation SNP C C G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 1 19468234 19468234 C G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.8217 p.E2739D 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 169 1 0.59 96 53 35.57 - - - UFC1 0 genome.wustl.edu 37 1 161127913 161127913 + Missense_Mutation SNP G G C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 1 161127913 161127913 G C SNP UFC1 ENST00000368003 human ensembl 69_37n +1 known missense c.335 p.G112A 1.000 pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1 pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1 - no_errors UFC1 HGNC ENSG00000143222 78 0 0.00 93 16 14.68 - - - UFC1 0 genome.wustl.edu 37 1 161127913 161127913 + Missense_Mutation SNP G G C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 1 161127913 161127913 G C SNP UFC1 ENST00000368003 human ensembl 69_37n +1 known missense c.335 p.G112A 1.000 pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1 pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1 - no_errors UFC1 HGNC ENSG00000143222 153 0 0.00 93 16 14.68 - - - VAMP2 0 genome.wustl.edu 37 17 8064834 8064834 + Silent SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 17 8064834 8064834 G A SNP VAMP2 ENST00000316509 human ensembl 69_37n -1 known silent c.291 p.I97 0.998 pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP2 HGNC ENSG00000220205 67 0 0.00 28 16 36.36 - - - VAMP2 0 genome.wustl.edu 37 17 8064834 8064834 + Silent SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 17 8064834 8064834 G A SNP VAMP2 ENST00000316509 human ensembl 69_37n -1 known silent c.291 p.I97 0.998 pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP2 HGNC ENSG00000220205 108 0 0.00 28 16 36.36 - - - VPS13B 0 genome.wustl.edu 37 8 100520093 100520093 + Missense_Mutation SNP T T C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 8 100520093 100520093 T C SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known missense c.4253 p.I1418T 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 89 0 0.00 184 25 11.96 - - - VPS13B 0 genome.wustl.edu 37 8 100520093 100520093 + Missense_Mutation SNP T T C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 8 100520093 100520093 T C SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known missense c.4253 p.I1418T 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 107 0 0.00 184 25 11.96 - - - ZBTB22 0 genome.wustl.edu 37 6 33284027 33284027 + Missense_Mutation SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 6 33284027 33284027 C T SNP ZBTB22 ENST00000418724 human ensembl 69_37n -1 known missense c.667 p.E223K 0.990 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 50 0 0.00 22 15 40.54 - - - ZBTB22 0 genome.wustl.edu 37 6 33284027 33284027 + Missense_Mutation SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 6 33284027 33284027 C T SNP ZBTB22 ENST00000418724 human ensembl 69_37n -1 known missense c.667 p.E223K 0.990 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 104 0 0.00 22 15 40.54 - - - ZNF513 0 genome.wustl.edu 37 2 27601436 27601437 + Frame_Shift_Ins INS - - G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 e1bc14b6-02fc-4f82-89c6-c08d7482449f 2 27601436 27601437 - G INS ZNF513 ENST00000323703 human ensembl 69_37n -1 known frame_shift_ins c.697_696 p.T232fs 0.997:0.998 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF513 HGNC ENSG00000163795 23 0 0.00 11 2 15.38 - - - ZNF513 0 genome.wustl.edu 37 2 27601436 27601437 + Frame_Shift_Ins INS - - G TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 2 27601436 27601437 - G INS ZNF513 ENST00000323703 human ensembl 69_37n -1 known frame_shift_ins c.697_696 p.T232fs 0.997:0.998 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF513 HGNC ENSG00000163795 24 0 0.00 11 2 15.38 - - - ZNF880 0 genome.wustl.edu 37 19 52888437 52888438 + Frame_Shift_Ins INS - - A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48706085-54be-4ea7-922e-46757a0b2979 11397279-b38a-4ec6-b121-21fda5625386 19 52888437 52888438 - A INS ZNF880 ENST00000422689 human ensembl 69_37n +1 known frame_shift_ins c.1604_1605 p.H538fs 0.005:0.000 pfam_Znf_C2H2,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 ZNF880 HGNC ENSG00000221923 73 0 0.00 17 2 10.53 - - -