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 ANKRD27 0 genome.wustl.edu 37 19 33131213 33131214 + Frame_Shift_Del DEL CA CA - TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 19 33131213 33131214 CA - DEL ANKRD27 ENST00000306065 human ensembl 69_37n -1 known frame_shift_del c.983_982 p.W328fs 1.000:1.000 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 55 0 0.00 17 9 34.62 - - - BPIFB3 0 genome.wustl.edu 37 20 31652537 31652538 + Frame_Shift_Ins INS - - C TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 20 31652537 31652538 - C INS BPIFB3 ENST00000375494 human ensembl 69_37n +1 known frame_shift_ins c.810_811 p.K272fs 0.996:0.997 superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 53 0 0.00 18 3 14.29 - - - BRAF 0 genome.wustl.edu 37 7 140439646 140439646 + Missense_Mutation SNP T T C TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 7 140439646 140439646 T C SNP BRAF ENST00000288602 human ensembl 69_37n -1 known missense c.2093 p.K698R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 77 0 0.00 81 67 45.27 - - - C14orf45 0 genome.wustl.edu 37 14 74489668 74489669 + Frame_Shift_Ins INS - - C TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 14 74489668 74489669 - C INS C14orf45 ENST00000394009 human ensembl 69_37n +1 known frame_shift_ins c.106_107 p.S37fs 1.000:0.987 NULL NULL - no_errors C14orf45 HGNC ENSG00000119636 58 0 0.00 21 3 12.50 - - - CACNA1C-AS1 0 genome.wustl.edu 37 12 2786404 2786405 + RNA DEL GG GG - TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 12 2786404 2786405 GG - DEL CACNA1C-AS1 ENST00000501371 human ensembl 69_37n -1 known rna NULL NULL 0.000:0.001 - - - no_errors CACNA1C-AS1 HGNC ENSG00000246627 47 0 0.00 16 35 67.31 - - - CACNA1C-AS1 0 genome.wustl.edu 37 12 2786413 2786413 + RNA DEL C C - TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 12 2786413 2786413 C - DEL CACNA1C-AS1 ENST00000501371 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors CACNA1C-AS1 HGNC ENSG00000246627 44 0 0.00 13 35 72.92 - - - COL8A1 0 genome.wustl.edu 37 3 99514533 99514534 + Frame_Shift_Ins INS - - C TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 3 99514533 99514534 - C INS COL8A1 ENST00000261037 human ensembl 69_37n +1 known frame_shift_ins c.1788_1789 p.H598fs 0.906:0.314 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 59 0 0.00 33 4 10.81 - - - CPA2 0 genome.wustl.edu 37 7 129915037 129915037 + Missense_Mutation SNP C C A TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 7 129915037 129915037 C A SNP CPA2 ENST00000222481 human ensembl 69_37n +1 known missense c.535 p.H179N 1.000 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA2 HGNC ENSG00000158516 126 0 0.00 376 87 18.79 - - - DBC1 0 genome.wustl.edu 37 9 121976161 121976162 + Frame_Shift_Ins INS - - C TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 9 121976161 121976162 - C INS DBC1 ENST00000373964 human ensembl 69_37n -1 known frame_shift_ins c.958_957 p.P319fs 0.001:0.000 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 52 0 0.00 52 6 10.34 - - - ELN 0 genome.wustl.edu 37 7 73452051 73452051 + Missense_Mutation SNP G G C TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 7 73452051 73452051 G C SNP ELN ENST00000358929 human ensembl 69_37n +1 known missense c.178 p.G60R 1.000 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 77 0 0.00 37 15 28.85 - - - ESRP2 0 genome.wustl.edu 37 16 68266395 68266395 + Missense_Mutation SNP G G T TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 16 68266395 68266395 G T SNP ESRP2 ENST00000565858 human ensembl 69_37n -1 known missense c.863 p.A288E 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 80 0 0.00 63 9 12.50 - - - FAT3 0 genome.wustl.edu 37 11 92532819 92532819 + Frame_Shift_Del DEL G G - TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 11 92532819 92532819 G - DEL FAT3 ENST00000298047 human ensembl 69_37n +1 known frame_shift_del c.6640 p.E2214fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 37 0 0.00 35 28 41.79 - - - FGF9 0 genome.wustl.edu 37 13 22255226 22255226 + Missense_Mutation SNP G G A TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 13 22255226 22255226 G A SNP FGF9 ENST00000382353 human ensembl 69_37n +1 known missense c.323 p.R108Q 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF9 HGNC ENSG00000102678 225 0 0.00 186 25 11.85 - - - HOXA9 0 genome.wustl.edu 37 7 27208959 27208959 + RNA DEL G G - TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 7 27208959 27208959 G - DEL HOXA9 ENST00000497089 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors HOXA9 HGNC ENSG00000078399 21 0 0.00 8 2 20.00 - - - KIAA1107 0 genome.wustl.edu 37 1 92649706 92649706 + Frame_Shift_Del DEL T T - TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 1 92649706 92649706 T - DEL KIAA1107 ENST00000409154 human ensembl 69_37n +1 known frame_shift_del c.4049 p.L1350fs 1.000 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 71 0 0.00 63 37 37.00 - - - KLHL34 0 genome.wustl.edu 37 X 21674481 21674481 + Frame_Shift_Del DEL C C - TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 X 21674481 21674481 C - DEL KLHL34 ENST00000379499 human ensembl 69_37n -1 known frame_shift_del c.1426 p.V476fs 0.031 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 28 0 0.00 4 2 33.33 - - - LRIG1 0 genome.wustl.edu 37 3 66436432 66436433 + Frame_Shift_Ins INS - - C TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 3 66436432 66436433 - C INS LRIG1 ENST00000273261 human ensembl 69_37n -1 known frame_shift_ins c.1762_1761 p.S587fs 1.000:1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG1 HGNC ENSG00000144749 122 0 0.00 164 127 43.64 - - - LRRN4 0 genome.wustl.edu 37 20 6025283 6025283 + Nonsense_Mutation SNP G G A TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 20 6025283 6025283 G A SNP LRRN4 ENST00000378858 human ensembl 69_37n -1 known nonsense c.904 p.Q302* 0.919 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 222 1 0.45 53 115 68.45 - - - MIR548D2 0 genome.wustl.edu 37 17 65467663 65467664 + RNA INS - - C TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 17 65467663 65467664 - C INS MIR548D2 ENST00000384955 human ensembl 69_37n +1 known rna NULL NULL 0.295:0.292 - - - no_errors MIR548D2 HGNC ENSG00000207688 113 0 0.00 3 3 50.00 - - - MTUS2 0 genome.wustl.edu 37 13 29599116 29599117 + Frame_Shift_Ins INS - - C TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 13 29599116 29599117 - C INS MTUS2 ENST00000431530 human ensembl 69_37n +1 known frame_shift_ins c.311_312 p.L105fs 0.478:0.460 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 108 0 0.00 18 2 10.00 - - - MYH13 0 genome.wustl.edu 37 17 10216067 10216068 + Frame_Shift_Ins INS - - T TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 17 10216067 10216068 - T INS MYH13 ENST00000252172 human ensembl 69_37n -1 known frame_shift_ins c.4189_4188 p.L1396fs 1.000:0.998 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH13 HGNC ENSG00000006788 134 0 0.00 61 18 22.78 - - - PLEKHH1 0 genome.wustl.edu 37 14 68038517 68038517 + Frame_Shift_Del DEL T T - TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 14 68038517 68038517 T - DEL PLEKHH1 ENST00000329153 human ensembl 69_37n +1 known frame_shift_del c.1483 p.S495fs 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 95 0 0.00 41 22 33.85 - - - PMPCA 0 genome.wustl.edu 37 9 139316462 139316462 + Missense_Mutation SNP A A C TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 9 139316462 139316462 A C SNP PMPCA ENST00000444897 human ensembl 69_37n +1 known missense c.566 p.Q189P 0.000 NULL pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_start_codon PMPCA HGNC ENSG00000165688 9 0 0.00 4 38 90.48 - - - POLR3GL 0 genome.wustl.edu 37 1 145457994 145457994 + Missense_Mutation SNP C C T TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 1 145457994 145457994 C T SNP POLR3GL ENST00000369314 human ensembl 69_37n -1 known missense c.266 p.R89H 1.000 pfam_RNA_pol_III_Rpc31 pfam_RNA_pol_III_Rpc31 - no_errors POLR3GL HGNC ENSG00000121851 115 0 0.00 161 20 11.05 - - - PPP1R3F 0 genome.wustl.edu 37 X 49126982 49126983 + Frame_Shift_Ins INS - - G TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 X 49126982 49126983 - G INS PPP1R3F ENST00000055335 human ensembl 69_37n +1 known frame_shift_ins c.650_651 p.I217fs 1.000:0.999 pfam_CBM_21,pfscan_CBM_21 pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 20 0 0.00 7 6 46.15 - - - PRKCD 0 genome.wustl.edu 37 3 53217170 53217171 + Frame_Shift_Ins INS - - G TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 3 53217170 53217171 - G INS PRKCD ENST00000330452 human ensembl 69_37n +1 known frame_shift_ins c.605_606 p.D202fs 1.000:1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCD HGNC ENSG00000163932 84 0 0.00 41 41 50.00 - - - RALGAPA2 0 genome.wustl.edu 37 20 20517353 20517353 + Silent SNP G G A TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 20 20517353 20517353 G A SNP RALGAPA2 ENST00000202677 human ensembl 69_37n -1 known silent c.3361 p.L1121 0.836 superfamily_ARM-type_fold pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC ENSG00000188559 148 0 0.00 74 26 26.00 - - - SLC2A5 0 genome.wustl.edu 37 1 9101751 9101751 + Missense_Mutation SNP G G A TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 1 9101751 9101751 G A SNP SLC2A5 ENST00000377414 human ensembl 69_37n -1 known missense c.664 p.L222F 0.000 pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Fru_transpt_5,prints_Sugar/inositol_transpt - no_errors SLC2A5 HGNC ENSG00000142583 75 0 0.00 35 14 28.57 - - - SORL1 0 genome.wustl.edu 37 11 121466411 121466411 + Silent SNP G G T TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 11 121466411 121466411 G T SNP SORL1 ENST00000260197 human ensembl 69_37n +1 known silent c.4449 p.T1483 0.996 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 64 0 0.00 31 4 11.43 - - - STARD9 0 genome.wustl.edu 37 15 42986022 42986023 + In_Frame_Ins INS - - CAG TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 15 42986022 42986023 - CAG INS STARD9 ENST00000290607 human ensembl 69_37n +1 known in_frame_ins c.12246_12247 p.4083in_frame_insQ 0.000:0.001 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 18 0 0.00 8 9 52.94 - - - TBX10 0 genome.wustl.edu 37 11 67402624 67402625 + Frame_Shift_Ins INS - - CAGG TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 11 67402624 67402625 - CAGG INS TBX10 ENST00000335385 human ensembl 69_37n -1 known frame_shift_ins c.118_117 p.C39fs 0.101:0.090 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX10 HGNC ENSG00000167800 26 0 0.00 47 38 44.71 - - - TNRC6C 0 genome.wustl.edu 37 17 76079237 76079237 + Frame_Shift_Del DEL A A - TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 17 76079237 76079237 A - DEL TNRC6C ENST00000335749 human ensembl 69_37n +1 known frame_shift_del c.3458 p.Q1153fs 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 49 0 0.00 23 66 73.33 - - - ZNF791 0 genome.wustl.edu 37 19 12739046 12739046 + Missense_Mutation SNP G G A TCGA-AN-A0FN-01A-11W-A050-09 TCGA-AN-A0FN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f583981-b257-43ee-9c9e-71a192a49d38 cab9af86-5f00-4d36-8d62-424add7d7492 19 12739046 12739046 G A SNP ZNF791 ENST00000343325 human ensembl 69_37n +1 known missense c.703 p.E235K 0.476 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 ZNF791 HGNC ENSG00000173875 65 0 0.00 33 9 21.43 - - -