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 ACAT2 0 genome.wustl.edu 37 6 160189620 160189620 + Silent SNP T T A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 6 160189620 160189620 T A SNP ACAT2 ENST00000541436 human ensembl 69_37n +1 known silent c.537 p.G179 0.983 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT2 HGNC ENSG00000120437 256 0 0.00 124 141 53.21 - - - APBB1IP 0 genome.wustl.edu 37 10 26856303 26856304 + Frame_Shift_Ins INS - - C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 10 26856303 26856304 - C INS APBB1IP ENST00000376236 human ensembl 69_37n +1 known frame_shift_ins c.1887_1888 p.K631fs 0.012:0.995 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 14 0 0.00 6 2 25.00 - - - ARHGAP10 0 genome.wustl.edu 37 4 148985600 148985600 + Missense_Mutation SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 4 148985600 148985600 G A SNP ARHGAP10 ENST00000507661 human ensembl 69_37n +1 putative missense c.1093 p.V365M 0.022 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ARHGAP10 HGNC ENSG00000071205 284 0 0.00 280 46 14.11 - - - ATG2A 0 genome.wustl.edu 37 11 64666107 64666107 + Splice_Site SNP C C T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 11 64666107 64666107 C T SNP ATG2A ENST00000421419 human ensembl 69_37n -1 known splice_site c.4677+1 e32+1 1.000 - - - no_errors ATG2A HGNC ENSG00000110046 62 0 0.00 22 12 35.29 - - - BICD2 0 genome.wustl.edu 37 9 95481299 95481300 + Frame_Shift_Ins INS - - G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 9 95481299 95481300 - G INS BICD2 ENST00000356884 human ensembl 69_37n -1 known frame_shift_ins c.1628_1627 p.M543fs 1.000:1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 14 0 0.00 5 7 58.33 - - - BICD2 0 genome.wustl.edu 37 9 95481305 95481306 + Frame_Shift_Ins INS - - G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 9 95481305 95481306 - G INS BICD2 ENST00000356884 human ensembl 69_37n -1 known frame_shift_ins c.1622_1621 p.V541fs 1.000:1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 15 0 0.00 6 7 53.85 - - - BPIFB4 0 genome.wustl.edu 37 20 31671605 31671605 + Missense_Mutation SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 20 31671605 31671605 G A SNP BPIFB4 ENST00000375483 human ensembl 69_37n +1 known missense c.602 p.G201E 0.997 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 BPIFB4 HGNC ENSG00000186191 173 0 0.00 33 20 37.74 - - - C16orf58 0 genome.wustl.edu 37 16 31510720 31510720 + Frame_Shift_Del DEL G G - TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 16 31510720 31510720 G - DEL C16orf58 ENST00000327237 human ensembl 69_37n -1 known frame_shift_del c.503 p.A168fs 1.000 pfam_DUF647 pfam_DUF647 - no_errors C16orf58 HGNC ENSG00000140688 163 0 0.00 78 67 44.97 - - - C8orf40 0 genome.wustl.edu 37 8 42407725 42407725 + Missense_Mutation SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 8 42407725 42407725 G A SNP C8orf40 ENST00000414154 human ensembl 69_37n +1 known missense c.298 p.D100N 1.000 NULL NULL - no_errors C8orf40 HGNC ENSG00000176209 152 0 0.00 559 179 24.25 - - - CDC42BPG 0 genome.wustl.edu 37 11 64597451 64597451 + Frame_Shift_Del DEL G G - TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 11 64597451 64597451 G - DEL CDC42BPG ENST00000342711 human ensembl 69_37n -1 known frame_shift_del c.3459 p.S1154fs 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 17 0 0.00 3 4 57.14 - - - CELSR1 0 genome.wustl.edu 37 22 46929574 46929575 + Frame_Shift_Ins INS - - C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 22 46929574 46929575 - C INS CELSR1 ENST00000262738 human ensembl 69_37n -1 known frame_shift_ins c.3494_3493 p.D1165fs 1.000:1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 16 0 0.00 4 3 42.86 - - - CENPJ 0 genome.wustl.edu 37 13 25480533 25480533 + Frame_Shift_Del DEL T T - TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 13 25480533 25480533 T - DEL CENPJ ENST00000381884 human ensembl 69_37n -1 known frame_shift_del c.1643 p.E548fs 0.001 NULL pfam_Tcp10/CenJ_C - no_errors CENPJ HGNC ENSG00000151849 118 0 0.00 61 25 28.74 - - - CLECL1 0 genome.wustl.edu 37 12 9885557 9885558 + Frame_Shift_Ins INS - - A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 12 9885557 9885558 - A INS CLECL1 ENST00000327839 human ensembl 69_37n -1 known frame_shift_ins c.304_303 p.L101fs 0.003:0.002 NULL superfamily_C-type_lectin_fold - no_errors CLECL1 HGNC ENSG00000184293 68 0 0.00 74 10 11.90 - - - CRY2 0 genome.wustl.edu 37 11 45882531 45882531 + Silent SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 11 45882531 45882531 G A SNP CRY2 ENST00000443527 human ensembl 69_37n +1 known silent c.663 p.E221 1.000 superfamily_DNA_photolyase_N pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY2 HGNC ENSG00000121671 96 0 0.00 32 18 36.00 - - - DCAF4L2 0 genome.wustl.edu 37 8 88885215 88885215 + Missense_Mutation SNP C C T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 8 88885215 88885215 C T SNP DCAF4L2 ENST00000319675 human ensembl 69_37n -1 known missense c.985 p.V329M 0.993 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 175 0 0.00 103 241 70.06 - - - DDIT4L 0 genome.wustl.edu 37 4 101108852 101108852 + Silent SNP T T C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 4 101108852 101108852 T C SNP DDIT4L ENST00000273990 human ensembl 69_37n -1 known silent c.564 p.T188 0.999 NULL pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 36 0 0.00 23 20 46.51 - - - ECH1 0 genome.wustl.edu 37 19 39306943 39306943 + Frame_Shift_Del DEL G G - TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 19 39306943 39306943 G - DEL ECH1 ENST00000221418 human ensembl 69_37n -1 known frame_shift_del c.712 p.L238fs 0.998 pfam_Crotonase_core pfam_Crotonase_core - no_errors ECH1 HGNC ENSG00000104823 113 0 0.00 31 15 31.25 - - - EML6 0 genome.wustl.edu 37 2 55119763 55119763 + Silent SNP G G T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 2 55119763 55119763 G T SNP EML6 ENST00000356458 human ensembl 69_37n +1 novel silent c.2712 p.G904 0.997 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 274 0 0.00 310 49 13.65 - - - EML6 0 genome.wustl.edu 37 2 55177837 55177838 + Frame_Shift_Ins INS - - C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 2 55177837 55177838 - C INS EML6 ENST00000356458 human ensembl 69_37n +1 novel frame_shift_ins c.4134_4135 p.N1378fs 0.999:1.000 pfam_HELP pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 49 0 0.00 66 69 51.11 - - - EP400 0 genome.wustl.edu 37 12 132551918 132551919 + Frame_Shift_Ins INS - - T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 12 132551918 132551919 - T INS EP400 ENST00000333577 human ensembl 69_37n +1 known frame_shift_ins c.8869_8870 p.A2958fs 1.000:1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 48 0 0.00 16 3 15.79 - - - FFAR1 0 genome.wustl.edu 37 19 35843061 35843061 + Missense_Mutation SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 19 35843061 35843061 G A SNP FFAR1 ENST00000246553 human ensembl 69_37n +1 known missense c.607 p.V203M 0.998 pfam_7TM_GPCR_Rhodpsn,prints_GPR40-rel_recept,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_GPR40_recept_FA,prints_GPR40-rel_recept,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors FFAR1 HGNC ENSG00000126266 35 0 0.00 0 7 100.00 - - - FMO5 0 genome.wustl.edu 37 1 146680607 146680607 + Missense_Mutation SNP G G T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 1 146680607 146680607 G T SNP FMO5 ENST00000254090 human ensembl 69_37n -1 known missense c.637 p.L213I 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_1 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 97 0 0.00 56 57 50.44 - - - GPR98 0 genome.wustl.edu 37 5 90052316 90052316 + Nonsense_Mutation SNP G G T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 5 90052316 90052316 G T SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known nonsense c.11626 p.E3876* 0.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 198 0 0.00 71 86 54.78 - - - GRIN1 0 genome.wustl.edu 37 9 140052856 140052856 + Missense_Mutation SNP G G C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 9 140052856 140052856 G C SNP GRIN1 ENST00000371561 human ensembl 69_37n +1 known missense c.994 p.D332H 0.966 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 26 0 0.00 1 6 85.71 - - - GYLTL1B 0 genome.wustl.edu 37 11 45945095 45945095 + Frame_Shift_Del DEL G G - TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 11 45945095 45945095 G - DEL GYLTL1B ENST00000325468 human ensembl 69_37n +1 known frame_shift_del c.357 p.M119fs 0.970 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 35 0 0.00 11 16 59.26 - - - HDLBP 0 genome.wustl.edu 37 2 242202140 242202140 + Missense_Mutation SNP T T C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 2 242202140 242202140 T C SNP HDLBP ENST00000310931 human ensembl 69_37n -1 known missense c.436 p.R146G 0.030 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 281 0 0.00 129 77 37.38 - - - HELZ 0 genome.wustl.edu 37 17 65184713 65184713 + Missense_Mutation SNP C C T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 17 65184713 65184713 C T SNP HELZ ENST00000358691 human ensembl 69_37n -1 known missense c.884 p.R295H 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 57 0 0.00 14 50 78.12 - - - IDH3G 0 genome.wustl.edu 37 X 153055671 153055671 + Missense_Mutation SNP A A G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 X 153055671 153055671 A G SNP IDH3G ENST00000217901 human ensembl 69_37n -1 known missense c.212 p.L71P 0.943 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3G HGNC ENSG00000067829 46 0 0.00 15 9 37.50 - - - IGF2R 0 genome.wustl.edu 37 6 160489290 160489290 + Silent SNP T T C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 6 160489290 160489290 T C SNP IGF2R ENST00000356956 human ensembl 69_37n +1 known silent c.4125 p.A1375 1.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 102 1 0.97 63 10 13.70 - - - ISLR2 0 genome.wustl.edu 37 15 74425224 74425224 + Frame_Shift_Del DEL T T - TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 15 74425224 74425224 T - DEL ISLR2 ENST00000361742 human ensembl 69_37n +1 known frame_shift_del c.129 p.E44fs 0.973 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like - no_errors ISLR2 HGNC ENSG00000167178 109 0 0.00 42 18 30.00 - - - KATNB1 0 genome.wustl.edu 37 16 57790846 57790847 + Frame_Shift_Ins INS - - G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 16 57790846 57790847 - G INS KATNB1 ENST00000379661 human ensembl 69_37n +1 known frame_shift_ins c.1956_1957 p.S652fs 0.868:0.394 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 8 0 0.00 3 7 70.00 - - - KCNA5 0 genome.wustl.edu 37 12 5153647 5153647 + Silent SNP C C T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 12 5153647 5153647 C T SNP KCNA5 ENST00000252321 human ensembl 69_37n +1 known silent c.334 p.L112 0.003 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 31 0 0.00 8 9 52.94 - - - KIAA2026 0 genome.wustl.edu 37 9 6007235 6007235 + Silent SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 9 6007235 6007235 G A SNP KIAA2026 ENST00000399933 human ensembl 69_37n -1 novel silent c.553 p.L185 1.000 superfamily_Bromodomain superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 34 0 0.00 3 10 76.92 - - - LRP12 0 genome.wustl.edu 37 8 105503535 105503535 + Missense_Mutation SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 8 105503535 105503535 G A SNP LRP12 ENST00000424843 human ensembl 69_37n -1 known missense c.1889 p.S630F 1.000 NULL pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 168 0 0.00 306 64 17.30 - - - MAML3 0 genome.wustl.edu 37 4 140811603 140811603 + Silent SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 4 140811603 140811603 G A SNP MAML3 ENST00000509479 human ensembl 69_37n -1 known silent c.987 p.F329 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 388 0 0.00 259 40 13.38 - - - MKI67 0 genome.wustl.edu 37 10 129921415 129921415 + Silent SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 10 129921415 129921415 G A SNP MKI67 ENST00000368654 human ensembl 69_37n -1 known silent c.111 p.I37 0.933 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 136 0 0.00 64 48 42.86 - - - MNAT1 0 genome.wustl.edu 37 14 61285489 61285489 + Missense_Mutation SNP G G C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 14 61285489 61285489 G C SNP MNAT1 ENST00000261245 human ensembl 69_37n +1 known missense c.611 p.R204T 1.000 pirsf_MAT1_metazoa,pfam_Cdk-activating_kinase_MAT1_cen,tigrfam_MAT1 pirsf_MAT1_metazoa,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1 - no_errors MNAT1 HGNC ENSG00000020426 192 0 0.00 244 37 13.17 - - - MUC16 0 genome.wustl.edu 37 19 9084121 9084121 + Missense_Mutation SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 19 9084121 9084121 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.7694 p.T2565M 0.183 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 738 1 0.14 606 236 28.03 - - - MYT1L 0 genome.wustl.edu 37 2 1843052 1843052 + Missense_Mutation SNP C C G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 2 1843052 1843052 C G SNP MYT1L ENST00000399161 human ensembl 69_37n -1 known missense c.2949 p.K983N 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 33 0 0.00 53 11 17.19 - - - NARFL 0 genome.wustl.edu 37 16 787259 787260 + Frame_Shift_Ins INS - - C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 16 787259 787260 - C INS NARFL ENST00000251588 human ensembl 69_37n -1 known frame_shift_ins c.233_232 p.I78fs 1.000:1.000 superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 16 0 0.00 11 10 47.62 - - - NAT8 0 genome.wustl.edu 37 2 73868674 73868674 + Missense_Mutation SNP G G T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 2 73868674 73868674 G T SNP NAT8 ENST00000272425 human ensembl 69_37n -1 known missense c.82 p.H28N 0.987 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8 HGNC ENSG00000144035 94 0 0.00 63 14 18.18 - - - NUDT14 0 genome.wustl.edu 37 14 105639485 105639485 + Frame_Shift_Del DEL A A - TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 14 105639485 105639485 A - DEL NUDT14 ENST00000392568 human ensembl 69_37n -1 known frame_shift_del c.542 p.V181fs 0.975 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase - no_errors NUDT14 HGNC ENSG00000183828 8 0 0.00 5 8 61.54 - - - NXF3 0 genome.wustl.edu 37 X 102339332 102339332 + Missense_Mutation SNP G G C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 X 102339332 102339332 G C SNP NXF3 ENST00000395065 human ensembl 69_37n -1 known missense c.289 p.P97A 0.143 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF3 HGNC ENSG00000147206 362 0 0.00 173 91 34.34 - - - OR5A1 0 genome.wustl.edu 37 11 59211431 59211431 + Nonsense_Mutation SNP C C T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 11 59211431 59211431 C T SNP OR5A1 ENST00000302030 human ensembl 69_37n +1 known nonsense c.790 p.R264* 0.337 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5A1 HGNC ENSG00000172320 522 0 0.00 284 244 46.12 - - - PDE6A 0 genome.wustl.edu 37 5 149310672 149310672 + Silent SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 5 149310672 149310672 G A SNP PDE6A ENST00000255266 human ensembl 69_37n -1 known silent c.777 p.F259 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 199 0 0.00 53 58 52.25 - - - PDHA1 0 genome.wustl.edu 37 X 19371264 19371264 + Silent SNP C C T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 X 19371264 19371264 C T SNP PDHA1 ENST00000379806 human ensembl 69_37n +1 known silent c.597 p.Y199 0.996 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA1 HGNC ENSG00000131828 446 0 0.00 268 75 21.80 - - - PIF1 0 genome.wustl.edu 37 15 65110250 65110251 + In_Frame_Ins INS - - GAA TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 15 65110250 65110251 - GAA INS PIF1 ENST00000333425 human ensembl 69_37n -1 known in_frame_ins c.1569_1568 p.524in_frame_insS 1.000:1.000 pfam_DNA_helicase_PIF1 pfam_DNA_helicase_PIF1,pfam_DNA_helicase - no_errors PIF1 HGNC ENSG00000140451 104 0 0.00 47 32 40.51 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 106 0 0.00 144 72 33.33 - - - PLCL2 0 genome.wustl.edu 37 3 17053177 17053177 + Missense_Mutation SNP A A T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 3 17053177 17053177 A T SNP PLCL2 ENST00000418129 human ensembl 69_37n +1 known missense c.1961 p.D654V 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 171 0 0.00 99 102 50.75 - - - PLEKHG2 0 genome.wustl.edu 37 19 39905655 39905656 + Frame_Shift_Ins INS - - C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 19 39905655 39905656 - C INS PLEKHG2 ENST00000409794 human ensembl 69_37n +1 known frame_shift_ins c.133_134 p.R47fs 1.000:1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 15 0 0.00 6 3 33.33 - - - PRRT4 0 genome.wustl.edu 37 7 127999474 127999474 + Missense_Mutation SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 7 127999474 127999474 G A SNP PRRT4 ENST00000446477 human ensembl 69_37n -1 known missense c.572 p.T191M 0.973 NULL NULL - no_errors PRRT4 HGNC ENSG00000224940 83 0 0.00 21 17 44.74 - - - RNF133 0 genome.wustl.edu 37 7 122338268 122338268 + Silent SNP T T G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 7 122338268 122338268 T G SNP RNF133 ENST00000340112 human ensembl 69_37n -1 known silent c.705 p.G235 0.025 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC ENSG00000188050 212 0 0.00 149 99 39.92 - - - SALL1 0 genome.wustl.edu 37 16 51174941 51174941 + Missense_Mutation SNP C C T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 16 51174941 51174941 C T SNP SALL1 ENST00000251020 human ensembl 69_37n -1 known missense c.1192 p.A398T 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 246 1 0.40 217 26 10.66 - - - SHANK2 0 genome.wustl.edu 37 11 70332712 70332713 + Frame_Shift_Ins INS - - A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 11 70332712 70332713 - A INS SHANK2 ENST00000338508 human ensembl 69_37n -1 known frame_shift_ins c.3689_3688 p.E1230fs 1.000:1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 43 0 0.00 20 56 73.68 - - - SHANK2 0 genome.wustl.edu 37 11 70332718 70332718 + Frame_Shift_Del DEL A A - TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 11 70332718 70332718 A - DEL SHANK2 ENST00000338508 human ensembl 69_37n -1 known frame_shift_del c.3683 p.M1228fs 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 42 0 0.00 15 50 76.92 - - - SLC7A3 0 genome.wustl.edu 37 X 70149701 70149701 + Silent SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 X 70149701 70149701 G A SNP SLC7A3 ENST00000298085 human ensembl 69_37n -1 known silent c.147 p.G49 0.540 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 108 0 0.00 40 16 27.12 - - - SNORD18A 0 genome.wustl.edu 37 15 66795596 66795596 + RNA SNP G G C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 15 66795596 66795596 G C SNP SNORD18A ENST00000363753 human ensembl 69_37n -1 known rna NULL NULL 0.873 - - - no_errors SNORD18A HGNC ENSG00000200623 112 0 0.00 44 28 38.89 - - - SPAG17 0 genome.wustl.edu 37 1 118624074 118624074 + Missense_Mutation SNP T T G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 1 118624074 118624074 T G SNP SPAG17 ENST00000336338 human ensembl 69_37n -1 known missense c.1954 p.M652L 0.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 240 0 0.00 224 32 12.50 - - - TGFBI 0 genome.wustl.edu 37 5 135396550 135396550 + Missense_Mutation SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 5 135396550 135396550 G A SNP TGFBI ENST00000305126 human ensembl 69_37n +1 known missense c.1831 p.E611K 0.997 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 130 0 0.00 87 12 12.12 - - - TGM1 0 genome.wustl.edu 37 14 24724646 24724646 + Silent SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 14 24724646 24724646 G A SNP TGM1 ENST00000206765 human ensembl 69_37n -1 known silent c.1569 p.I523 0.920 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 86 0 0.00 40 19 32.20 - - - TIE1 0 genome.wustl.edu 37 1 43783620 43783620 + Silent SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 1 43783620 43783620 G A SNP TIE1 ENST00000372476 human ensembl 69_37n +1 known silent c.2799 p.R933 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 80 0 0.00 54 16 22.86 - - - TMEM18 0 genome.wustl.edu 37 2 676235 676236 + Frame_Shift_Ins INS - - C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 2 676235 676236 - C INS TMEM18 ENST00000432667 human ensembl 69_37n -1 known frame_shift_ins c.61_60 p.Q20fs 0.008:0.023 NULL NULL - no_errors TMEM18 HGNC ENSG00000151353 35 0 0.00 4 3 42.86 - - - TMEM214 0 genome.wustl.edu 37 2 27258528 27258528 + Frame_Shift_Del DEL C C - TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 2 27258528 27258528 C - DEL TMEM214 ENST00000238788 human ensembl 69_37n +1 known frame_shift_del c.569 p.A190fs 0.007 NULL pfam_DUF2359_TMEM214 - no_errors TMEM214 HGNC ENSG00000119777 288 0 0.00 134 92 39.83 - - - TMEM214 0 genome.wustl.edu 37 2 27258530 27258531 + In_Frame_Ins INS - - TGT TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 2 27258530 27258531 - TGT INS TMEM214 ENST00000238788 human ensembl 69_37n +1 known in_frame_ins c.571_572 p.G191in_frame_insVW 0.367:0.403 NULL pfam_DUF2359_TMEM214 - no_errors TMEM214 HGNC ENSG00000119777 288 0 0.00 134 92 40.71 - - - TP53 0 genome.wustl.edu 37 17 7576855 7576855 + Nonsense_Mutation SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 17 7576855 7576855 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.991 p.Q331* 0.999 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 575 0 0.00 50 168 77.06 - - - TXK 0 genome.wustl.edu 37 4 48076033 48076033 + Missense_Mutation SNP C C T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 4 48076033 48076033 C T SNP TXK ENST00000264316 human ensembl 69_37n -1 known missense c.1276 p.A426T 0.898 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 118 0 0.00 153 28 15.47 - - - UBC 0 genome.wustl.edu 37 12 125396685 125396686 + Frame_Shift_Ins INS - - G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 12 125396685 125396686 - G INS UBC ENST00000339647 human ensembl 69_37n -1 known frame_shift_ins c.1633_1632 p.I544fs 1.000:1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 63 0 0.00 7 4 36.36 - - - UMOD 0 genome.wustl.edu 37 16 20357504 20357504 + Missense_Mutation SNP C C A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 16 20357504 20357504 C A SNP UMOD ENST00000424589 human ensembl 69_37n -1 known missense c.1225 p.D409Y 0.826 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 pfam_Zona_pellucida_Endoglin/CD105,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors UMOD HGNC ENSG00000169344 69 0 0.00 36 5 12.20 - - - UNC13B 0 genome.wustl.edu 37 9 35231138 35231138 + Missense_Mutation SNP C C T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 9 35231138 35231138 C T SNP UNC13B ENST00000396787 human ensembl 69_37n +1 known missense c.74 p.T25I 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 249 0 0.00 170 133 43.89 - - - UPF3A 0 genome.wustl.edu 37 13 115048384 115048385 + Frame_Shift_Ins INS - - C TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 13 115048384 115048385 - C INS UPF3A ENST00000375299 human ensembl 69_37n +1 known frame_shift_ins c.387_388 p.R129fs 0.983:1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 190 0 0.00 111 55 33.13 - - - USP53 0 genome.wustl.edu 37 4 120181041 120181041 + Silent SNP A A G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 4 120181041 120181041 A G SNP USP53 ENST00000274030 human ensembl 69_37n +1 known silent c.636 p.L212 0.897 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP53 HGNC ENSG00000145390 178 0 0.00 159 119 42.81 - - - XCR1 0 genome.wustl.edu 37 3 46063416 46063416 + Missense_Mutation SNP C C G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 3 46063416 46063416 C G SNP XCR1 ENST00000309285 human ensembl 69_37n -1 known missense c.24 p.E8D 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_lymphotactin_XCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 191 0 0.00 10 40 78.43 - - - YTHDF3 0 genome.wustl.edu 37 8 64087954 64087954 + RNA SNP C C T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 8 64087954 64087954 C T SNP YTHDF3 ENST00000339066 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ENSG00000185728 154 0 0.00 218 42 16.15 - - - ZCCHC12 0 genome.wustl.edu 37 X 117959686 117959686 + Frame_Shift_Del DEL T T - TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 X 117959686 117959686 T - DEL ZCCHC12 ENST00000310164 human ensembl 69_37n +1 known frame_shift_del c.479 p.Q161fs 0.986 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 156 0 0.00 118 135 53.36 - - - ZSCAN21 0 genome.wustl.edu 37 7 99662245 99662245 + Nonsense_Mutation SNP C C T TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a762809c-15c9-485e-ad7a-ef28427750e9 12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9 7 99662245 99662245 C T SNP ZSCAN21 ENST00000543588 human ensembl 69_37n +1 known nonsense c.1324 p.Q442* 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN21 HGNC ENSG00000166529 185 0 0.00 148 29 16.38 - - -