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 ADCY6 0 genome.wustl.edu 37 12 49167398 49167398 + Silent SNP C C T TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 12 49167398 49167398 C T SNP ADCY6 ENST00000307885 human ensembl 69_37n -1 known silent c.2475 p.L825 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 46 0 0.00 24 4 14.29 - - - AEN 0 genome.wustl.edu 37 15 89169536 89169536 + Frame_Shift_Del DEL A A - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 15 89169536 89169536 A - DEL AEN ENST00000379231 human ensembl 69_37n +1 known frame_shift_del c.96 p.R33fs 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors AEN HGNC ENSG00000181026 18 0 0.00 5 2 28.57 - - - AKAP6 0 genome.wustl.edu 37 14 33014845 33014845 + Frame_Shift_Del DEL C C - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 14 33014845 33014845 C - DEL AKAP6 ENST00000280979 human ensembl 69_37n +1 known frame_shift_del c.986 p.S329fs 0.001 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 41 0 0.00 12 2 14.29 - - - ARHGAP5 0 genome.wustl.edu 37 14 32562919 32562919 + Frame_Shift_Del DEL A A - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 14 32562919 32562919 A - DEL ARHGAP5 ENST00000345122 human ensembl 69_37n +1 known frame_shift_del c.3044 p.G1016fs 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 56 0 0.00 16 2 11.11 - - - ASPHD2 0 genome.wustl.edu 37 22 26829760 26829761 + Frame_Shift_Ins INS - - T TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 22 26829760 26829761 - T INS ASPHD2 ENST00000215906 human ensembl 69_37n +1 known frame_shift_ins c.179_180 p.V61fs 0.889:0.000 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ENSG00000128203 43 0 0.00 9 2 18.18 - - - C1orf63 0 genome.wustl.edu 37 1 25572981 25572981 + Frame_Shift_Del DEL G G - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 1 25572981 25572981 G - DEL C1orf63 ENST00000417642 human ensembl 69_37n -1 known frame_shift_del c.453 p.R152fs 0.005 NULL NULL - no_errors C1orf63 HGNC ENSG00000117616 42 0 0.00 10 2 16.67 - - - CAMK1D 0 genome.wustl.edu 37 10 12391854 12391854 + Frame_Shift_Del DEL A A - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 10 12391854 12391854 A - DEL CAMK1D ENST00000378847 human ensembl 69_37n +1 known frame_shift_del c.37 p.K14fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK1D HGNC ENSG00000183049 9 0 0.00 6 2 25.00 - - - ENTPD5 0 genome.wustl.edu 37 14 74442670 74442670 + Missense_Mutation SNP A A G TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 14 74442670 74442670 A G SNP ENTPD5 ENST00000334696 human ensembl 69_37n -1 known missense c.691 p.F231L 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD5 HGNC ENSG00000187097 56 0 0.00 33 4 10.81 - - - EWSR1 0 genome.wustl.edu 37 22 29694768 29694768 + Missense_Mutation SNP G G A TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 22 29694768 29694768 G A SNP EWSR1 ENST00000414183 human ensembl 69_37n +1 known missense c.1478 p.G493E 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 95 0 0.00 34 4 10.53 - - - FAM157B 0 genome.wustl.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 9 141107536 141107537 - GCA INS FAM157B ENST00000446912 human ensembl 69_37n +1 known rna NULL NULL 0.033:0.036 - - - no_errors FAM157B HGNC ENSG00000233013 60 0 0.00 25 14 35.90 - - - HCFC1 0 genome.wustl.edu 37 X 153236144 153236145 + Frame_Shift_Ins INS - - A TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e X 153236144 153236145 - A INS HCFC1 ENST00000310441 human ensembl 69_37n -1 known frame_shift_ins c.148_147 p.G49fs 1.000:0.968 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 63 0 0.00 12 2 14.29 - - - KRTAP5-10 0 genome.wustl.edu 37 11 71276948 71276948 + Silent SNP T T C TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 11 71276948 71276948 T C SNP KRTAP5-10 ENST00000398531 human ensembl 69_37n +1 known silent c.315 p.G105 0.175 NULL NULL - no_errors KRTAP5-10 HGNC ENSG00000204572 44 0 0.00 32 13 28.26 - - - LRIT3 0 genome.wustl.edu 37 4 110772968 110772968 + Missense_Mutation SNP C C T TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 4 110772968 110772968 C T SNP LRIT3 ENST00000379920 human ensembl 69_37n +1 known missense c.290 p.T97I 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT3 HGNC ENSG00000183423 73 0 0.00 29 4 12.12 - - - MFSD9 0 genome.wustl.edu 37 2 103340326 103340326 + Frame_Shift_Del DEL G G - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 2 103340326 103340326 G - DEL MFSD9 ENST00000258436 human ensembl 69_37n -1 known frame_shift_del c.470 p.S157fs 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG,pfscan_MFS_dom - no_errors MFSD9 HGNC ENSG00000135953 48 0 0.00 9 2 18.18 - - - MYO1B 0 genome.wustl.edu 37 2 192279367 192279367 + Frame_Shift_Del DEL A A - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 2 192279367 192279367 A - DEL MYO1B ENST00000304164 human ensembl 69_37n +1 known frame_shift_del c.3131 p.D1044fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 60 0 0.00 13 2 13.33 - - - NFRKB 0 genome.wustl.edu 37 11 129751713 129751713 + Silent SNP T T A TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 11 129751713 129751713 T A SNP NFRKB ENST00000524794 human ensembl 69_37n -1 known silent c.1302 p.P434 0.422 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 34 0 0.00 10 4 28.57 - - - NUP210 0 genome.wustl.edu 37 3 13418986 13418986 + Silent SNP G G A TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 3 13418986 13418986 G A SNP NUP210 ENST00000254508 human ensembl 69_37n -1 known silent c.1122 p.D374 0.998 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 52 0 0.00 24 4 13.79 - - - OSBPL5 0 genome.wustl.edu 37 11 3115043 3115043 + Missense_Mutation SNP C C A TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 11 3115043 3115043 C A SNP OSBPL5 ENST00000263650 human ensembl 69_37n -1 known missense c.1742 p.S581I 0.471 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 49 0 0.00 26 4 13.33 - - - OSR2 0 genome.wustl.edu 37 8 99963879 99963880 + Frame_Shift_Del DEL TG TG - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 8 99963879 99963880 TG - DEL OSR2 ENST00000457907 human ensembl 69_37n +1 known frame_shift_del c.1252_1253 p.C418fs 1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 46 0 0.00 15 2 11.76 - - - PYGL 0 genome.wustl.edu 37 14 51398401 51398401 + Frame_Shift_Del DEL T T - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 14 51398401 51398401 T - DEL PYGL ENST00000216392 human ensembl 69_37n -1 known frame_shift_del c.518 p.D173fs 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 45 0 0.00 13 2 13.33 - - - RASA4CP 0 genome.wustl.edu 37 7 44070465 44070465 + RNA DEL G G - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 7 44070465 44070465 G - DEL RASA4CP ENST00000425524 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RASA4CP HGNC ENSG00000228903 26 0 0.00 5 2 28.57 - - - RYR3 0 genome.wustl.edu 37 15 33962709 33962709 + Frame_Shift_Del DEL C C - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 15 33962709 33962709 C - DEL RYR3 ENST00000389232 human ensembl 69_37n +1 known frame_shift_del c.5812 p.K1939fs 0.932 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 72 0 0.00 18 2 10.00 - - - SMOC2 0 genome.wustl.edu 37 6 168910728 168910728 + Missense_Mutation SNP A A T TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 6 168910728 168910728 A T SNP SMOC2 ENST00000354536 human ensembl 69_37n +1 known missense c.218 p.D73V 1.000 pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 85 0 0.00 34 4 10.53 - - - SYNE1 0 genome.wustl.edu 37 6 152454589 152454589 + Missense_Mutation SNP C C A TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 6 152454589 152454589 C A SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.25823 p.R8608I 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 56 0 0.00 19 4 17.39 - - - TLR7 0 genome.wustl.edu 37 X 12905869 12905869 + Nonsense_Mutation SNP C C T TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e X 12905869 12905869 C T SNP TLR7 ENST00000380659 human ensembl 69_37n +1 known nonsense c.2242 p.Q748* 0.602 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 70 0 0.00 32 4 11.11 - - - TMEM247 0 genome.wustl.edu 37 2 46707888 46707888 + Frame_Shift_Del DEL G G - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 2 46707888 46707888 G - DEL TMEM247 ENST00000434431 human ensembl 69_37n +1 known frame_shift_del c.462 p.A155fs 0.083 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region TMEM247 HGNC ENSG00000187600 11 0 0.00 3 2 40.00 - - - TNS3 0 genome.wustl.edu 37 7 47408710 47408710 + Silent SNP G G C TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 7 47408710 47408710 G C SNP TNS3 ENST00000311160 human ensembl 69_37n -1 known silent c.1533 p.T511 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 44 0 0.00 17 4 19.05 - - - USPL1 0 genome.wustl.edu 37 13 31231753 31231753 + Silent SNP A A G TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 13 31231753 31231753 A G SNP USPL1 ENST00000255304 human ensembl 69_37n +1 known silent c.1539 p.P513 0.000 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 83 0 0.00 29 4 12.12 - - - WDR52 0 genome.wustl.edu 37 3 113010507 113010507 + Nonsense_Mutation SNP G G T TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 3 113010507 113010507 G T SNP WDR52 ENST00000393845 human ensembl 69_37n -1 known nonsense c.5462 p.S1821* 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 117 0 0.00 23 4 14.81 - - - WDR72 0 genome.wustl.edu 37 15 54025306 54025306 + Frame_Shift_Del DEL T T - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 15 54025306 54025306 T - DEL WDR72 ENST00000360509 human ensembl 69_37n -1 known frame_shift_del c.41 p.K14fs 0.944 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 WDR72 HGNC ENSG00000166415 69 0 0.00 11 2 15.38 - - - WWC3 0 genome.wustl.edu 37 X 10046872 10046872 + Missense_Mutation SNP A A G TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e X 10046872 10046872 A G SNP WWC3 ENST00000380861 human ensembl 69_37n +1 known missense c.254 p.D85G 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors WWC3 HGNC ENSG00000047644 87 0 0.00 28 4 12.50 - - - ZIC5 0 genome.wustl.edu 37 13 100622505 100622505 + Frame_Shift_Del DEL T T - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 13 100622505 100622505 T - DEL ZIC5 ENST00000267294 human ensembl 69_37n -1 novel frame_shift_del c.1425 p.K475fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 52 0 0.00 14 2 12.50 - - - ZNF337 0 genome.wustl.edu 37 20 25666719 25666720 + Frame_Shift_Del DEL GG GG - TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 20 25666719 25666720 GG - DEL ZNF337 ENST00000252979 human ensembl 69_37n -1 known frame_shift_del c.67_66 p.Q23fs 0.001:0.001 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF337 HGNC ENSG00000130684 24 0 0.00 6 2 25.00 - - - ZNF354C 0 genome.wustl.edu 37 5 178506093 178506093 + Silent SNP A A G TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 5 178506093 178506093 A G SNP ZNF354C ENST00000315475 human ensembl 69_37n +1 known silent c.660 p.E220 0.023 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 ZNF354C HGNC ENSG00000177932 46 0 0.00 27 4 12.90 - - - ZSCAN2 0 genome.wustl.edu 37 15 85164374 85164374 + Silent SNP C C T TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2cdecb2b-40b1-4419-bcd9-101cee78966c 9c3bd11e-386d-4ad4-a8c4-73eae17d537e 15 85164374 85164374 C T SNP ZSCAN2 ENST00000448803 human ensembl 69_37n +1 known silent c.948 p.S316 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 60 0 0.00 16 4 20.00 - - -