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 AEBP1 0 genome.wustl.edu 37 7 44150599 44150599 + Missense_Mutation SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 7 44150599 44150599 C A SNP AEBP1 ENST00000223357 human ensembl 69_37n +1 known missense c.1573 p.L525I 0.997 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 28 0 0.00 4 4 50.00 - - - ANKRD20A2 0 genome.wustl.edu 37 9 42410305 42410306 + Frame_Shift_Del DEL AA AA - TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 9 42410305 42410306 AA - DEL ANKRD20A2 ENST00000377601 human ensembl 69_37n +1 known frame_shift_del c.2294_2295 p.G767fs 0.440:0.416 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD20A2 HGNC ENSG00000183148 18 0 0.00 6 11 64.71 - - - AP1G2 0 genome.wustl.edu 37 14 24035107 24035107 + Missense_Mutation SNP G G T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 14 24035107 24035107 G T SNP AP1G2 ENST00000535852 human ensembl 69_37n -1 known missense c.128 p.T43N 1.000 pfam_Clathrin/coatomer_adapt-like_N,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 60 0 0.00 19 9 32.14 - - - ATAD2 0 genome.wustl.edu 37 8 124351573 124351573 + Silent SNP A A C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 8 124351573 124351573 A C SNP ATAD2 ENST00000287394 human ensembl 69_37n -1 known silent c.2832 p.P944 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 61 0 0.00 70 18 20.45 - - - B3GNT9 0 genome.wustl.edu 37 16 67183643 67183643 + Missense_Mutation SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 16 67183643 67183643 G A SNP B3GNT9 ENST00000449549 human ensembl 69_37n -1 known missense c.746 p.A249V 0.000 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 29 0 0.00 4 8 66.67 - - - BTN3A3 0 genome.wustl.edu 37 6 26443819 26443819 + Missense_Mutation SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 6 26443819 26443819 C A SNP BTN3A3 ENST00000244519 human ensembl 69_37n +1 known missense c.17 p.S6Y 0.002 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 93 0 0.00 67 34 33.66 - - - C20orf94 0 genome.wustl.edu 37 20 10603752 10603753 + Frame_Shift_Ins INS - - C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 20 10603752 10603753 - C INS C20orf94 ENST00000334534 human ensembl 69_37n +1 known frame_shift_ins c.952_953 p.L318fs 0.998:0.999 NULL NULL - no_errors C20orf94 HGNC ENSG00000149346 177 0 0.00 168 90 34.88 - - - C2orf16 0 genome.wustl.edu 37 2 27803116 27803116 + Missense_Mutation SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 2 27803116 27803116 C A SNP C2orf16 ENST00000408964 human ensembl 69_37n +1 known missense c.3677 p.A1226D 0.156 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 259 0 0.00 168 93 35.63 - - - C3orf30 0 genome.wustl.edu 37 3 118865046 118865046 + Frame_Shift_Del DEL C C - TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 3 118865046 118865046 C - DEL C3orf30 ENST00000295622 human ensembl 69_37n +1 known frame_shift_del c.10 p.P4fs 0.001 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 29 0 0.00 21 7 25.00 - - - C6orf70 0 genome.wustl.edu 37 6 170155510 170155510 + Missense_Mutation SNP T T G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 6 170155510 170155510 T G SNP C6orf70 ENST00000366773 human ensembl 69_37n +1 known missense c.307 p.F103V 0.003 NULL NULL - no_errors C6orf70 HGNC ENSG00000130023 97 0 0.00 74 40 35.09 - - - CCDC132 0 genome.wustl.edu 37 7 92952973 92952976 + Frame_Shift_Del DEL ATTC ATTC - TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 ATTC ATTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 7 92952973 92952976 ATTC - DEL CCDC132 ENST00000305866 human ensembl 69_37n +1 known frame_shift_del c.1906_1909 p.H637fs 1.000:1.000:1.000:1.000 NULL pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 51 0 0.00 88 11 11.11 - - - CDH19 0 genome.wustl.edu 37 18 64239322 64239322 + Missense_Mutation SNP T T G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 18 64239322 64239322 T G SNP CDH19 ENST00000262150 human ensembl 69_37n -1 known missense c.120 p.R40S 0.442 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH19 HGNC ENSG00000071991 77 0 0.00 45 84 65.12 - - - CEP68 0 genome.wustl.edu 37 2 65299282 65299282 + Missense_Mutation SNP C C T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 2 65299282 65299282 C T SNP CEP68 ENST00000377990 human ensembl 69_37n +1 known missense c.1052 p.T351I 0.821 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 134 0 0.00 58 85 59.03 - - - COL4A1 0 genome.wustl.edu 37 13 110859238 110859238 + Missense_Mutation SNP C C T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 13 110859238 110859238 C T SNP COL4A1 ENST00000375820 human ensembl 69_37n -1 known missense c.781 p.G261S 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 181 0 0.00 240 37 13.31 - - - COL6A3 0 genome.wustl.edu 37 2 238283233 238283233 + Silent SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 2 238283233 238283233 G A SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known silent c.3501 p.I1167 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 68 0 0.00 8 23 74.19 - - - CSMD3 0 genome.wustl.edu 37 8 113702256 113702256 + Missense_Mutation SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 8 113702256 113702256 C A SNP CSMD3 ENST00000297405 human ensembl 69_37n -1 known missense c.1996 p.D666Y 1.000 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 CSMD3 HGNC ENSG00000164796 229 0 0.00 314 95 23.23 - - - CUEDC1 0 genome.wustl.edu 37 17 55962645 55962645 + Missense_Mutation SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 17 55962645 55962645 C A SNP CUEDC1 ENST00000360238 human ensembl 69_37n -1 known missense c.281 p.S94I 0.312 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors CUEDC1 HGNC ENSG00000180891 16 0 0.00 11 10 47.62 - - - DBR1 0 genome.wustl.edu 37 3 137890542 137890542 + Silent SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 3 137890542 137890542 C A SNP DBR1 ENST00000260803 human ensembl 69_37n -1 known silent c.336 p.V112 0.795 pfam_Metallo_PEstase_dom pfam_DBR1_C,pfam_Metallo_PEstase_dom - no_errors DBR1 HGNC ENSG00000138231 103 0 0.00 77 40 34.19 - - - DDX11L1 0 genome.wustl.edu 37 1 13494 13494 + RNA SNP A A G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 1 13494 13494 A G SNP DDX11L1 ENST00000456328 human ensembl 69_37n +1 known rna NULL NULL 0.098 - - - no_errors DDX11L1 HGNC ENSG00000223972 26 0 0.00 35 5 12.50 - - - DENND1B 0 genome.wustl.edu 37 1 197481050 197481050 + Missense_Mutation SNP T T G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 1 197481050 197481050 T G SNP DENND1B ENST00000391979 human ensembl 69_37n -1 putative missense c.543 p.E181D 0.950 NULL NULL - no_start_codon DENND1B HGNC ENSG00000213047 107 0 0.00 136 62 31.31 - - - DNAJB8 0 genome.wustl.edu 37 3 128181749 128181749 + Missense_Mutation SNP A A C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 3 128181749 128181749 A C SNP DNAJB8 ENST00000319153 human ensembl 69_37n -1 known missense c.340 p.F114V 0.899 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB8 HGNC ENSG00000179407 121 0 0.00 13 32 71.11 - - - DPH1 0 genome.wustl.edu 37 17 1939888 1939888 + Frame_Shift_Del DEL A A - TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 17 1939888 1939888 A - DEL DPH1 ENST00000263083 human ensembl 69_37n +1 known frame_shift_del c.481 p.T161fs 1.000 pfam_DPH1/DPH2,pirsf_eu_DPH1/arc_DPH2,tigrfam_DPH1/DPH2 pfam_DPH1/DPH2,pirsf_eu_DPH1/arc_DPH2,tigrfam_DPH1/DPH2 - no_errors DPH1 HGNC ENSG00000108963 38 0 0.00 12 15 53.57 - - - DST 0 genome.wustl.edu 37 6 56399925 56399925 + Nonsense_Mutation SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 6 56399925 56399925 G A SNP DST ENST00000370754 human ensembl 69_37n -1 known nonsense c.16843 p.Q5615* 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 159 0 0.00 263 84 24.21 - - - EPB41L4B 0 genome.wustl.edu 37 9 111938882 111938882 + Missense_Mutation SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 9 111938882 111938882 G A SNP EPB41L4B ENST00000374566 human ensembl 69_37n -1 known missense c.2582 p.S861F 0.981 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L4B HGNC ENSG00000095203 53 0 0.00 73 10 12.05 - - - FAM135A 0 genome.wustl.edu 37 6 71186934 71186934 + Silent SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 6 71186934 71186934 C A SNP FAM135A ENST00000418814 human ensembl 69_37n +1 known silent c.441 p.G147 1.000 pfam_DUF3657 pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 63 0 0.00 74 40 35.09 - - - FNDC4 0 genome.wustl.edu 37 2 27717516 27717517 + Frame_Shift_Ins INS - - G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 2 27717516 27717517 - G INS FNDC4 ENST00000264703 human ensembl 69_37n -1 known frame_shift_ins c.31_30 p.S10fs 0.989:0.915 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC4 HGNC ENSG00000115226 8 0 0.00 4 2 33.33 - - - GCM2 0 genome.wustl.edu 37 6 10877583 10877583 + Missense_Mutation SNP A A C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 6 10877583 10877583 A C SNP GCM2 ENST00000379491 human ensembl 69_37n -1 known missense c.133 p.Y45D 1.000 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 63 0 0.00 35 29 45.31 - - - GCSAML 0 genome.wustl.edu 37 1 247712349 247712349 + Missense_Mutation SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 1 247712349 247712349 C A SNP GCSAML ENST00000366490 human ensembl 69_37n +1 known missense c.218 p.P73H 0.001 NULL NULL - no_errors GCSAML HGNC ENSG00000169224 30 0 0.00 8 7 46.67 - - - GLB1L3 0 genome.wustl.edu 37 11 134151330 134151330 + Missense_Mutation SNP T T G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 11 134151330 134151330 T G SNP GLB1L3 ENST00000431683 human ensembl 69_37n +1 known missense c.422 p.L141R 1.000 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 136 0 0.00 72 37 33.94 - - - GPAT2 0 genome.wustl.edu 37 2 96689096 96689096 + Silent SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 2 96689096 96689096 G A SNP GPAT2 ENST00000359548 human ensembl 69_37n -1 known silent c.1989 p.D663 1.000 NULL smart_Acyltransferase - no_errors GPAT2 HGNC ENSG00000186281 33 0 0.00 9 6 40.00 - - - GPR64 0 genome.wustl.edu 37 X 19031863 19031863 + Missense_Mutation SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 X 19031863 19031863 G A SNP GPR64 ENST00000379869 human ensembl 69_37n -1 known missense c.1040 p.S347F 0.011 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 119 0 0.00 51 21 29.17 - - - HERC4 0 genome.wustl.edu 37 10 69684843 69684843 + Silent SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 10 69684843 69684843 C A SNP HERC4 ENST00000395198 human ensembl 69_37n -1 known silent c.2964 p.L988 0.981 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 78 0 0.00 46 26 36.11 - - - HOXD3 0 genome.wustl.edu 37 2 177034213 177034213 + Missense_Mutation SNP C C G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 2 177034213 177034213 C G SNP HOXD3 ENST00000249440 human ensembl 69_37n +1 known missense c.371 p.P124R 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 84 0 0.00 52 16 23.53 - - - HRNR 0 genome.wustl.edu 37 1 152186443 152186443 + Silent SNP A A G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 1 152186443 152186443 A G SNP HRNR ENST00000368801 human ensembl 69_37n -1 known silent c.7662 p.H2554 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 10 0 0.00 3 2 40.00 - - - HTR1B 0 genome.wustl.edu 37 6 78172741 78172741 + Frame_Shift_Del DEL G G - TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 6 78172741 78172741 G - DEL HTR1B ENST00000369947 human ensembl 69_37n -1 known frame_shift_del c.380 p.S127fs 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt - no_errors HTR1B HGNC ENSG00000135312 37 0 0.00 27 6 18.18 - - - KCNIP4 0 genome.wustl.edu 37 4 20734354 20734354 + Missense_Mutation SNP G G T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 4 20734354 20734354 G T SNP KCNIP4 ENST00000382150 human ensembl 69_37n -1 known missense c.529 p.P177T 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors KCNIP4 HGNC ENSG00000185774 58 0 0.00 27 26 49.06 - - - KCNK5 0 genome.wustl.edu 37 6 39162506 39162506 + Missense_Mutation SNP G G C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 6 39162506 39162506 G C SNP KCNK5 ENST00000359534 human ensembl 69_37n -1 known missense c.329 p.A110G 0.093 pfam_Ion_trans_2,prints_2pore_dom_K_chnl pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 114 0 0.00 40 6 13.04 - - - KDELR1 0 genome.wustl.edu 37 19 48892898 48892899 + Frame_Shift_Ins INS - - T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 19 48892898 48892899 - T INS KDELR1 ENST00000330720 human ensembl 69_37n -1 known frame_shift_ins c.263_262 p.G88fs 1.000:1.000 pfam_ER_ret_rcpt pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR1 HGNC ENSG00000105438 90 0 0.00 305 3214 91.33 - - - KDELR1 0 genome.wustl.edu 37 19 48892902 48892903 + Frame_Shift_Ins INS - - T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 19 48892902 48892903 - T INS KDELR1 ENST00000330720 human ensembl 69_37n -1 known frame_shift_ins c.259_258 p.D86fs 1.000:0.833 pfam_ER_ret_rcpt pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR1 HGNC ENSG00000105438 90 0 0.00 322 2967 90.21 - - - KIAA0664 0 genome.wustl.edu 37 17 2601712 2601713 + Frame_Shift_Ins INS - - C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 17 2601712 2601713 - C INS KIAA0664 ENST00000435359 human ensembl 69_37n -1 known frame_shift_ins c.1325_1324 p.D442fs 1.000:1.000 NULL superfamily_GSKIP/TIF31_domain - no_errors KIAA0664 HGNC ENSG00000132361 18 0 0.00 1 2 66.67 - - - LCE1F 0 genome.wustl.edu 37 1 152749130 152749130 + Missense_Mutation SNP T T C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 1 152749130 152749130 T C SNP LCE1F ENST00000334371 human ensembl 69_37n +1 known missense c.283 p.C95R 0.991 NULL NULL - no_errors LCE1F HGNC ENSG00000240386 67 0 0.00 55 20 26.67 - - - LIPN 0 genome.wustl.edu 37 10 90537956 90537956 + Missense_Mutation SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 10 90537956 90537956 G A SNP LIPN ENST00000404459 human ensembl 69_37n +1 known missense c.1154 p.R385Q 0.002 NULL pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPN HGNC ENSG00000204020 37 0 0.00 35 12 25.53 - - - LOXL3 0 genome.wustl.edu 37 2 74762843 74762843 + Missense_Mutation SNP C C T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 2 74762843 74762843 C T SNP LOXL3 ENST00000264094 human ensembl 69_37n -1 known missense c.1288 p.V430I 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors LOXL3 HGNC ENSG00000115318 187 0 0.00 40 27 40.30 - - - LPO 0 genome.wustl.edu 37 17 56342263 56342263 + Missense_Mutation SNP C C G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 17 56342263 56342263 C G SNP LPO ENST00000262290 human ensembl 69_37n +1 known missense c.1447 p.Q483E 0.993 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 103 0 0.00 113 52 31.52 - - - MGA 0 genome.wustl.edu 37 15 42034982 42034982 + Missense_Mutation SNP T T A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 15 42034982 42034982 T A SNP MGA ENST00000219905 human ensembl 69_37n +1 known missense c.4824 p.N1608K 1.000 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 138 0 0.00 118 44 27.16 - - - MTHFS 0 genome.wustl.edu 37 15 80181580 80181580 + Silent SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 15 80181580 80181580 G A SNP MTHFS ENST00000258874 human ensembl 69_37n -1 known silent c.234 p.C78 0.998 pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase - no_errors MTHFS HGNC ENSG00000136371 250 1 0.40 90 394 81.24 - - - NUP93 0 genome.wustl.edu 37 16 56782315 56782315 + Missense_Mutation SNP C C T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 16 56782315 56782315 C T SNP NUP93 ENST00000566678 human ensembl 69_37n +1 putative missense c.55 p.P19S 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NUP93 HGNC ENSG00000102900 36 0 0.00 20 13 39.39 - - - OBSCN 0 genome.wustl.edu 37 1 228492905 228492905 + Missense_Mutation SNP G G C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 1 228492905 228492905 G C SNP OBSCN ENST00000366707 human ensembl 69_37n +1 known missense c.4379 p.S1460T 1.000 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 147 0 0.00 75 36 32.43 - - - PPIL2 0 genome.wustl.edu 37 22 22042019 22042020 + In_Frame_Ins INS - - GCA TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 22 22042019 22042020 - GCA INS PPIL2 ENST00000412327 human ensembl 69_37n +1 known in_frame_ins c.985_986 p.V329in_frame_insGM 1.000:1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL2 HGNC ENSG00000100023 81 0 0.00 16 20 55.56 - - - PRRC2B 0 genome.wustl.edu 37 9 134343003 134343003 + Missense_Mutation SNP C C T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 9 134343003 134343003 C T SNP PRRC2B ENST00000357304 human ensembl 69_37n +1 known missense c.1774 p.P592S 0.932 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 33 0 0.00 12 21 63.64 - - - PSG9 0 genome.wustl.edu 37 19 43762251 43762251 + Missense_Mutation SNP A A C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 19 43762251 43762251 A C SNP PSG9 ENST00000244293 human ensembl 69_37n -1 putative missense c.1067 p.M356R 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG9 HGNC ENSG00000183668 175 0 0.00 89 73 45.06 - - - PZP 0 genome.wustl.edu 37 12 9307212 9307212 + Missense_Mutation SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 12 9307212 9307212 C A SNP PZP ENST00000261336 human ensembl 69_37n -1 known missense c.3774 p.Q1258H 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 45 0 0.00 37 23 38.33 - - - RAB9B 0 genome.wustl.edu 37 X 103080633 103080633 + Missense_Mutation SNP C C T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 X 103080633 103080633 C T SNP RAB9B ENST00000243298 human ensembl 69_37n -1 known missense c.82 p.V28I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB9B HGNC ENSG00000123570 236 0 0.00 270 45 14.29 - - - RGAG1 0 genome.wustl.edu 37 X 109694149 109694149 + Missense_Mutation SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 X 109694149 109694149 C A SNP RGAG1 ENST00000465301 human ensembl 69_37n +1 known missense c.304 p.P102T 0.813 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 741 0 0.00 311 182 36.92 - - - RIN2 0 genome.wustl.edu 37 20 19970723 19970723 + Silent SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 20 19970723 19970723 G A SNP RIN2 ENST00000255006 human ensembl 69_37n +1 known silent c.1983 p.K661 0.997 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 11 0 0.00 12 6 33.33 - - - SCN3A 0 genome.wustl.edu 37 2 165948952 165948952 + Missense_Mutation SNP A A C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 2 165948952 165948952 A C SNP SCN3A ENST00000283254 human ensembl 69_37n -1 known missense c.4619 p.M1540R 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN3A HGNC ENSG00000153253 84 0 0.00 154 39 20.21 - - - SEMG1 0 genome.wustl.edu 37 20 43836891 43836891 + Missense_Mutation SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 20 43836891 43836891 C A SNP SEMG1 ENST00000372781 human ensembl 69_37n +1 known missense c.953 p.T318N 0.001 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 86 0 0.00 40 109 73.15 - - - SERPINA4 0 genome.wustl.edu 37 14 95030369 95030369 + Missense_Mutation SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 14 95030369 95030369 G A SNP SERPINA4 ENST00000298841 human ensembl 69_37n +1 known missense c.550 p.D184N 0.006 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA4 HGNC ENSG00000100665 294 0 0.00 137 68 33.17 - - - SERPINF1 0 genome.wustl.edu 37 17 1675177 1675177 + Missense_Mutation SNP A A C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 17 1675177 1675177 A C SNP SERPINF1 ENST00000254722 human ensembl 69_37n +1 known missense c.451 p.K151Q 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINF1 HGNC ENSG00000132386 77 0 0.00 9 13 59.09 - - - SHISA4 0 genome.wustl.edu 37 1 201858660 201858660 + Frame_Shift_Del DEL G G - TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 1 201858660 201858660 G - DEL SHISA4 ENST00000362011 human ensembl 69_37n +1 known frame_shift_del c.161 p.C54fs 1.000 NULL NULL - no_errors SHISA4 HGNC ENSG00000198892 84 0 0.00 80 57 41.01 - - - SIGLEC7 0 genome.wustl.edu 37 19 51645679 51645680 + Frame_Shift_Ins INS - - CT TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 19 51645679 51645680 - CT INS SIGLEC7 ENST00000317643 human ensembl 69_37n +1 known frame_shift_ins c.53_54 p.Q19fs 0.004:0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC7 HGNC ENSG00000168995 72 0 0.00 33 21 38.89 - - - SIK2 0 genome.wustl.edu 37 11 111575768 111575768 + Missense_Mutation SNP C C T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 11 111575768 111575768 C T SNP SIK2 ENST00000304987 human ensembl 69_37n +1 known missense c.1006 p.R336C 1.000 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 114 0 0.00 97 42 30.22 - - - SPTA1 0 genome.wustl.edu 37 1 158653171 158653171 + Missense_Mutation SNP T T C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 1 158653171 158653171 T C SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.380 p.E127G 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 140 0 0.00 149 86 36.44 - - - SUGP2 0 genome.wustl.edu 37 19 19115425 19115425 + Silent SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 19 19115425 19115425 G A SNP SUGP2 ENST00000337018 human ensembl 69_37n -1 known silent c.2481 p.F827 1.000 pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 141 0 0.00 93 29 23.77 - - - SYNDIG1L 0 genome.wustl.edu 37 14 74874370 74874370 + Silent SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 14 74874370 74874370 G A SNP SYNDIG1L ENST00000331628 human ensembl 69_37n -1 known silent c.585 p.D195 1.000 pfam_Interferon-induced_TM_protein pfam_Interferon-induced_TM_protein - no_errors SYNDIG1L HGNC ENSG00000183379 32 0 0.00 7 5 41.67 - - - TBX22 0 genome.wustl.edu 37 X 79282218 79282218 + Missense_Mutation SNP A A G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 X 79282218 79282218 A G SNP TBX22 ENST00000373294 human ensembl 69_37n +1 known missense c.649 p.M217V 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 170 0 0.00 123 97 44.09 - - - TLR4 0 genome.wustl.edu 37 9 120475992 120475992 + Missense_Mutation SNP A A G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 9 120475992 120475992 A G SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known missense c.1586 p.H529R 1.000 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp 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,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 98 0 0.00 84 44 34.38 - - - TNXB 0 genome.wustl.edu 37 6 32029331 32029331 + Silent SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 6 32029331 32029331 G A SNP TNXB ENST00000375247 human ensembl 69_37n -1 known silent c.7335 p.Y2445 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 50 0 0.00 42 13 23.64 - - - TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.637 p.R213* 0.893 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 121 0 0.00 23 31 57.41 - - - TRAM1L1 0 genome.wustl.edu 37 4 118005694 118005694 + Missense_Mutation SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 4 118005694 118005694 C A SNP TRAM1L1 ENST00000310754 human ensembl 69_37n -1 known missense c.856 p.A286S 0.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 122 0 0.00 96 37 27.82 - - - TRAM1L1 0 genome.wustl.edu 37 4 118005695 118005695 + Silent SNP A A G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 4 118005695 118005695 A G SNP TRAM1L1 ENST00000310754 human ensembl 69_37n -1 known silent c.855 p.D285 0.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 121 0 0.00 98 38 27.94 - - - TRBV6-8 0 genome.wustl.edu 37 7 142124359 142124359 + Missense_Mutation SNP A A G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 7 142124359 142124359 A G SNP TRBV6-8 ENST00000390376 human ensembl 69_37n -1 known missense c.119 p.L40P 0.001 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV6-8 HGNC ENSG00000253534 293 0 0.00 304 122 28.57 - - - TRIOBP 0 genome.wustl.edu 37 22 38155444 38155444 + Frame_Shift_Del DEL G G - TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 22 38155444 38155444 G - DEL TRIOBP ENST00000407319 human ensembl 69_37n +1 known frame_shift_del c.1206 p.V404fs 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 90 0 0.00 32 18 35.29 - - - TRIOBP 0 genome.wustl.edu 37 22 38155468 38155469 + Frame_Shift_Ins INS - - A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 22 38155468 38155469 - A INS TRIOBP ENST00000407319 human ensembl 69_37n +1 known frame_shift_ins c.1230_1231 p.S410fs 1.000:1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 73 0 0.00 26 16 38.10 - - - TUBB4B 0 genome.wustl.edu 37 9 140137915 140137915 + Missense_Mutation SNP G G A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 9 140137915 140137915 G A SNP TUBB4B ENST00000340384 human ensembl 69_37n +1 known missense c.1245 p.M415I 1.000 superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB4B HGNC ENSG00000188229 54 0 0.00 30 11 26.83 - - - TUBGCP6 0 genome.wustl.edu 37 22 50682186 50682187 + Frame_Shift_Ins INS - - G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 22 50682186 50682187 - G INS TUBGCP6 ENST00000248846 human ensembl 69_37n -1 known frame_shift_ins c.703_702 p.V234fs 0.995:0.063 NULL pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 24 0 0.00 10 2 16.67 - - - UBR1 0 genome.wustl.edu 37 15 43347026 43347026 + Missense_Mutation SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 15 43347026 43347026 C A SNP UBR1 ENST00000290650 human ensembl 69_37n -1 known missense c.1353 p.E451D 0.998 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 296 0 0.00 170 115 40.35 - - - UCP2 0 genome.wustl.edu 37 11 73689330 73689330 + Missense_Mutation SNP A A T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 11 73689330 73689330 A T SNP UCP2 ENST00000310473 human ensembl 69_37n -1 known missense c.94 p.F32I 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors UCP2 HGNC ENSG00000175567 95 0 0.00 54 57 50.89 - - - USH2A 0 genome.wustl.edu 37 1 215848573 215848573 + Missense_Mutation SNP T T C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 1 215848573 215848573 T C SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.12680 p.D4227G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 230 0 0.00 302 113 27.23 - - - WDR4 0 genome.wustl.edu 37 21 44270341 44270342 + Frame_Shift_Ins INS - - A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 21 44270341 44270342 - A INS WDR4 ENST00000330317 human ensembl 69_37n -1 known frame_shift_ins c.1057_1056 p.A352fs 0.000:0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR4 HGNC ENSG00000160193 78 0 0.00 40 66 62.26 - - - WDR4 0 genome.wustl.edu 37 21 44270347 44270348 + Frame_Shift_Ins INS - - A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 21 44270347 44270348 - A INS WDR4 ENST00000330317 human ensembl 69_37n -1 known frame_shift_ins c.1051_1050 p.A350fs 0.000:0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR4 HGNC ENSG00000160193 76 0 0.00 38 68 64.15 - - - WIF1 0 genome.wustl.edu 37 12 65514265 65514265 + Frame_Shift_Del DEL G G - TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 12 65514265 65514265 G - DEL WIF1 ENST00000286574 human ensembl 69_37n -1 known frame_shift_del c.220 p.Q74fs 1.000 pfam_WIF,smart_WIF,pfscan_WIF,prints_Wnt-inh pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EGF-like,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh - no_errors WIF1 HGNC ENSG00000156076 58 0 0.00 63 41 38.68 - - - ZNF319 0 genome.wustl.edu 37 16 58031098 58031098 + Missense_Mutation SNP G G C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 16 58031098 58031098 G C SNP ZNF319 ENST00000299237 human ensembl 69_37n -1 known missense c.1072 p.L358V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 19 0 0.00 1 7 87.50 - - - ZNF407 0 genome.wustl.edu 37 18 72343892 72343892 + Missense_Mutation SNP G G C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 18 72343892 72343892 G C SNP ZNF407 ENST00000299687 human ensembl 69_37n +1 known missense c.917 p.R306T 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 184 0 0.00 98 22 18.18 - - - ZNF671 0 genome.wustl.edu 37 19 58232832 58232832 + Missense_Mutation SNP C C T TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 19 58232832 58232832 C T SNP ZNF671 ENST00000317398 human ensembl 69_37n -1 known missense c.622 p.D208N 0.325 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 ZNF671 HGNC ENSG00000083814 139 0 0.00 117 18 13.33 - - - ZNF687 0 genome.wustl.edu 37 1 151263360 151263361 + Frame_Shift_Ins INS - - G TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 1 151263360 151263361 - G INS ZNF687 ENST00000324048 human ensembl 69_37n +1 known frame_shift_ins c.3389_3390 p.E1131fs 1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 31 0 0.00 14 8 36.36 - - - ZNF737 0 genome.wustl.edu 37 19 20728192 20728192 + Missense_Mutation SNP T T C TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f4f06be-2a16-4ae2-9dd4-5d87f480810b f51b5a75-a541-4589-b883-7f651a2612c9 19 20728192 20728192 T C SNP ZNF737 ENST00000427401 human ensembl 69_37n -1 known missense c.817 p.T273A 0.005 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 ZNF737 HGNC ENSG00000237440 263 1 0.38 241 132 35.39 - - -