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 ABCA8 0 genome.wustl.edu 37 17 66925817 66925817 + Missense_Mutation SNP C C A TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 17 66925817 66925817 C A SNP ABCA8 ENST00000430352 human ensembl 69_37n -1 known missense c.824 p.G275V 0.025 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 336 0 0.00 217 88 28.85 - - - ANKRD20A4 0 genome.wustl.edu 37 9 69421983 69421983 + Missense_Mutation SNP G G C TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 9 69421983 69421983 G C SNP ANKRD20A4 ENST00000357336 human ensembl 69_37n +1 known missense c.1447 p.V483L 0.004 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 32 0 0.00 29 7 19.44 - - - ARMCX1 0 genome.wustl.edu 37 X 100808906 100808907 + Frame_Shift_Ins INS - - T TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 X 100808906 100808907 - T INS ARMCX1 ENST00000372829 human ensembl 69_37n +1 known frame_shift_ins c.993_994 p.A333fs 0.997:0.998 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 417 0 0.00 408 90 18.07 - - - BMX 0 genome.wustl.edu 37 X 15540601 15540601 + Nonsense_Mutation SNP C C T TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 X 15540601 15540601 C T SNP BMX ENST00000342014 human ensembl 69_37n +1 known nonsense c.643 p.Q215* 0.005 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom - no_errors BMX HGNC ENSG00000102010 631 2 0.31 432 219 33.64 - - - C4orf6 0 genome.wustl.edu 37 4 5528055 5528055 + Missense_Mutation SNP A A G TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 4 5528055 5528055 A G SNP C4orf6 ENST00000505296 human ensembl 69_37n +1 novel missense c.241 p.M81V 0.024 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C4orf6 HGNC ENSG00000082929 126 0 0.00 93 48 34.04 - - - CCDC88A 0 genome.wustl.edu 37 2 55549817 55549818 + Frame_Shift_Ins INS - - T TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 2 55549817 55549818 - T INS CCDC88A ENST00000436346 human ensembl 69_37n -1 known frame_shift_ins c.3009_3008 p.N1003fs 1.000:1.000 NULL pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 107 0 0.00 93 24 20.51 - - - CTC1 0 genome.wustl.edu 37 17 8141861 8141861 + Missense_Mutation SNP C C G TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 17 8141861 8141861 C G SNP CTC1 ENST00000315684 human ensembl 69_37n -1 known missense c.284 p.W95S 0.987 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 95 0 0.00 94 16 14.55 - - - CYP11B1 0 genome.wustl.edu 37 8 143959174 143959174 + Missense_Mutation SNP T T C TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 8 143959174 143959174 T C SNP CYP11B1 ENST00000377675 human ensembl 69_37n -1 novel missense c.607 p.R203G 0.000 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 40 0 0.00 31 9 22.50 - - - ERBB4 0 genome.wustl.edu 37 2 212248393 212248393 + Missense_Mutation SNP G G A TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 2 212248393 212248393 G A SNP ERBB4 ENST00000342788 human ensembl 69_37n -1 known missense c.3874 p.P1292S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 129 0 0.00 75 30 28.57 - - - FAM123B 0 genome.wustl.edu 37 X 63411447 63411447 + Missense_Mutation SNP G G A TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 X 63411447 63411447 G A SNP FAM123B ENST00000330258 human ensembl 69_37n -1 known missense c.1720 p.R574W 0.035 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 142 0 0.00 121 41 25.31 - - - FAT2 0 genome.wustl.edu 37 5 150948304 150948304 + Silent SNP C C T TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 5 150948304 150948304 C T SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known silent c.189 p.A63 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 237 0 0.00 117 66 36.07 - - - FCHO1 0 genome.wustl.edu 37 19 17881246 17881248 + In_Frame_Del DEL GTG GTG - TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 GTG GTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 19 17881246 17881248 GTG - DEL FCHO1 ENST00000252771 human ensembl 69_37n +1 known in_frame_del c.349_351 p.V118in_frame_del 0.843:0.631:0.438 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH - no_errors FCHO1 HGNC ENSG00000130475 21 0 0.00 30 7 18.92 - - - FMNL3 0 genome.wustl.edu 37 12 50052270 50052270 + Missense_Mutation SNP G G A TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 12 50052270 50052270 G A SNP FMNL3 ENST00000293590 human ensembl 69_37n -1 known missense c.560 p.P187L 1.000 superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL3 HGNC ENSG00000161791 48 0 0.00 34 22 39.29 - - - FOXA1 0 genome.wustl.edu 37 14 38061222 38061222 + Missense_Mutation SNP T T A TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 14 38061222 38061222 T A SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.767 p.N256I 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 21 0 0.00 18 4 18.18 - - - GPR133 0 genome.wustl.edu 37 12 131622702 131622703 + Frame_Shift_Ins INS - - A TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 12 131622702 131622703 - A INS GPR133 ENST00000261654 human ensembl 69_37n +1 known frame_shift_ins c.2457_2458 p.T820fs 1.000:1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 44 0 0.00 16 2 11.11 - - - GTF2IRD1 0 genome.wustl.edu 37 7 73961494 73961494 + Silent SNP G G A TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 7 73961494 73961494 G A SNP GTF2IRD1 ENST00000265755 human ensembl 69_37n +1 known silent c.1794 p.P598 0.291 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 28 0 0.00 30 6 16.22 - - - GTF3C1 0 genome.wustl.edu 37 16 27506805 27506805 + Silent SNP G G A TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 16 27506805 27506805 G A SNP GTF3C1 ENST00000356183 human ensembl 69_37n -1 known silent c.2359 p.L787 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 22 0 0.00 20 4 16.67 - - - HERC1 0 genome.wustl.edu 37 15 63944671 63944671 + Missense_Mutation SNP C C T TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 15 63944671 63944671 C T SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known missense c.10360 p.V3454I 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 53 0 0.00 33 22 40.00 - - - IGFBP7 0 genome.wustl.edu 37 4 57907076 57907077 + Frame_Shift_Ins INS - - G TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 4 57907076 57907077 - G INS IGFBP7 ENST00000295666 human ensembl 69_37n -1 known frame_shift_ins c.499_498 p.K166fs 1.000:1.000 pfam_Ig_I-set,smart_Ig_sub,pirsf_IGFBP_rP_mac25,pfscan_Ig-like pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_IGFBP-like,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_Ig_sub,pirsf_IGFBP_rP_mac25,pfscan_Ig-like - no_errors IGFBP7 HGNC ENSG00000163453 78 0 0.00 62 7 10.14 - - - LPA 0 genome.wustl.edu 37 6 161007564 161007564 + Missense_Mutation SNP G G A TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 6 161007564 161007564 G A SNP LPA ENST00000316300 human ensembl 69_37n -1 known missense c.4046 p.T1349M 0.337 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors LPA HGNC ENSG00000198670 341 0 0.00 210 112 34.78 - - - MED12 0 genome.wustl.edu 37 X 70340011 70340011 + Missense_Mutation SNP C C T TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 X 70340011 70340011 C T SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.544 p.P182S 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 276 0 0.00 128 60 31.91 - - - MTUS2 0 genome.wustl.edu 37 13 29600217 29600217 + Missense_Mutation SNP G G T TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 13 29600217 29600217 G T SNP MTUS2 ENST00000431530 human ensembl 69_37n +1 known missense c.1412 p.S471I 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 197 0 0.00 101 48 32.21 - - - PIP5K1A 0 genome.wustl.edu 37 1 151204807 151204807 + Frame_Shift_Del DEL G G - TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 1 151204807 151204807 G - DEL PIP5K1A ENST00000368888 human ensembl 69_37n +1 known frame_shift_del c.452 p.E152fs 1.000 smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 220 0 0.00 392 54 11.89 - - - PLA2G4E 0 genome.wustl.edu 37 15 42284983 42284983 + Silent SNP G G A TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 15 42284983 42284983 G A SNP PLA2G4E ENST00000413860 human ensembl 69_37n -1 known silent c.1335 p.T445 0.992 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4E HGNC ENSG00000188089 51 0 0.00 24 8 25.00 - - - PSIP1 0 genome.wustl.edu 37 9 15474030 15474032 + In_Frame_Del DEL CTT CTT - TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 9 15474030 15474032 CTT - DEL PSIP1 ENST00000380733 human ensembl 69_37n -1 known in_frame_del c.835_833 p.E278in_frame_del 1.000:0.993:1.000 prints_Treacle-like_TCS pfam_LEDGF,pfam_PWWP,smart_PWWP,prints_Treacle-like_TCS,pfscan_PWWP - no_errors PSIP1 HGNC ENSG00000164985 447 0 0.00 358 115 24.31 - - - RTKN2 0 genome.wustl.edu 37 10 63964752 63964752 + Missense_Mutation SNP A A T TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 10 63964752 63964752 A T SNP RTKN2 ENST00000373789 human ensembl 69_37n -1 known missense c.1050 p.D350E 0.358 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 123 0 0.00 101 50 33.11 - - - TBC1D2 0 genome.wustl.edu 37 9 100983164 100983164 + Frame_Shift_Del DEL G G - TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 9 100983164 100983164 G - DEL TBC1D2 ENST00000375066 human ensembl 69_37n -1 known frame_shift_del c.1325 p.A442fs 0.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 25 0 0.00 16 7 30.43 - - - THBS1 0 genome.wustl.edu 37 15 39883401 39883402 + Frame_Shift_Ins INS - - CA TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 15 39883401 39883402 - CA INS THBS1 ENST00000260356 human ensembl 69_37n +1 known frame_shift_ins c.2263_2264 p.F756fs 1.000:0.999 NULL pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 146 0 0.00 82 21 20.39 - - - TMEM161B 0 genome.wustl.edu 37 5 87494931 87494931 + Missense_Mutation SNP C C A TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 5 87494931 87494931 C A SNP TMEM161B ENST00000296595 human ensembl 69_37n -1 known missense c.951 p.W317C 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161B HGNC ENSG00000164180 38 0 0.00 48 24 33.33 - - - UPF3B 0 genome.wustl.edu 37 X 118986832 118986832 + Silent SNP G G A TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 X 118986832 118986832 G A SNP UPF3B ENST00000276201 human ensembl 69_37n -1 known silent c.60 p.A20 0.000 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 125 0 0.00 114 60 33.71 - - - VSIG1 0 genome.wustl.edu 37 X 107320387 107320387 + Missense_Mutation SNP A A G TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 X 107320387 107320387 A G SNP VSIG1 ENST00000415430 human ensembl 69_37n +1 known missense c.1048 p.T350A 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC ENSG00000101842 421 1 0.24 281 129 31.31 - - - ZNF142 0 genome.wustl.edu 37 2 219514141 219514141 + Missense_Mutation SNP T T C TCGA-A8-A08A-01A-11W-A019-09 TCGA-A8-A08A-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0257d030-6d78-452c-9dcc-79fe50533543 47f8d355-c16e-49ea-919c-9924b1a9c375 2 219514141 219514141 T C SNP ZNF142 ENST00000411696 human ensembl 69_37n -1 known missense c.490 p.M164V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 26 0 0.00 16 10 38.46 - - -