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 ABI1 0 genome.wustl.edu 37 10 27040638 27040638 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 10 27040638 27040638 G A SNP ABI1 ENST00000355394 human ensembl 69_37n -1 known missense c.1243 p.P415S 0.999 superfamily_SH3_domain pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI1 HGNC ENSG00000136754 56 0 0.00 63 9 12.50 - - - ABI1 0 genome.wustl.edu 37 10 27040638 27040638 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 10 27040638 27040638 G A SNP ABI1 ENST00000355394 human ensembl 69_37n -1 known missense c.1243 p.P415S 0.999 superfamily_SH3_domain pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI1 HGNC ENSG00000136754 86 0 0.00 63 9 12.50 - - - ACSL1 0 genome.wustl.edu 37 4 185678828 185678828 + Silent SNP C C T TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 4 185678828 185678828 C T SNP ACSL1 ENST00000281455 human ensembl 69_37n -1 known silent c.1917 p.V639 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL1 HGNC ENSG00000151726 377 0 0.00 451 113 20.04 - - - ACSL1 0 genome.wustl.edu 37 4 185678828 185678828 + Silent SNP C C T TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 4 185678828 185678828 C T SNP ACSL1 ENST00000281455 human ensembl 69_37n -1 known silent c.1917 p.V639 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL1 HGNC ENSG00000151726 643 0 0.00 451 113 20.04 - - - ALDH1A1 0 genome.wustl.edu 37 9 75533714 75533714 + Missense_Mutation SNP C C A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 9 75533714 75533714 C A SNP ALDH1A1 ENST00000297785 human ensembl 69_37n -1 known missense c.772 p.A258S 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 114 0 0.00 106 22 17.19 - - - ALDH1A1 0 genome.wustl.edu 37 9 75533714 75533714 + Missense_Mutation SNP C C A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 9 75533714 75533714 C A SNP ALDH1A1 ENST00000297785 human ensembl 69_37n -1 known missense c.772 p.A258S 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 178 0 0.00 106 22 17.19 - - - ARFGEF2 0 genome.wustl.edu 37 20 47601333 47601333 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 20 47601333 47601333 G A SNP ARFGEF2 ENST00000371917 human ensembl 69_37n +1 known missense c.2026 p.E676K 1.000 pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 221 0 0.00 756 208 21.58 - - - ARFGEF2 0 genome.wustl.edu 37 20 47601333 47601333 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 20 47601333 47601333 G A SNP ARFGEF2 ENST00000371917 human ensembl 69_37n +1 known missense c.2026 p.E676K 1.000 pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 139 0 0.00 756 208 21.58 - - - ATP7A 0 genome.wustl.edu 37 X 77244986 77244986 + Missense_Mutation SNP T T C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 X 77244986 77244986 T C SNP ATP7A ENST00000341514 human ensembl 69_37n +1 known missense c.868 p.S290P 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 335 0 0.00 297 56 15.86 - - - ATP7A 0 genome.wustl.edu 37 X 77244986 77244986 + Missense_Mutation SNP T T C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e X 77244986 77244986 T C SNP ATP7A ENST00000341514 human ensembl 69_37n +1 known missense c.868 p.S290P 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 460 1 0.22 297 56 15.86 - - - BHLHB9 0 genome.wustl.edu 37 X 102003966 102003967 + Frame_Shift_Ins INS - - A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e X 102003966 102003967 - A INS BHLHB9 ENST00000361229 human ensembl 69_37n +1 known frame_shift_ins c.43_44 p.A18fs 0.000:0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 212 0 0.00 147 22 13.02 - - - BMPR2 0 genome.wustl.edu 37 2 203417447 203417447 + Silent SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 2 203417447 203417447 G A SNP BMPR2 ENST00000374580 human ensembl 69_37n +1 known silent c.1422 p.R474 0.992 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC ENSG00000204217 83 0 0.00 69 39 36.11 - - - BMPR2 0 genome.wustl.edu 37 2 203417447 203417447 + Silent SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 2 203417447 203417447 G A SNP BMPR2 ENST00000374580 human ensembl 69_37n +1 known silent c.1422 p.R474 0.992 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC ENSG00000204217 108 0 0.00 69 39 36.11 - - - BTN3A1 0 genome.wustl.edu 37 6 26406257 26406257 + Missense_Mutation SNP G G C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 6 26406257 26406257 G C SNP BTN3A1 ENST00000289361 human ensembl 69_37n +1 known missense c.206 p.S69T 0.001 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A1 HGNC ENSG00000026950 154 0 0.00 75 20 21.05 - - - BTN3A1 0 genome.wustl.edu 37 6 26406257 26406257 + Missense_Mutation SNP G G C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 6 26406257 26406257 G C SNP BTN3A1 ENST00000289361 human ensembl 69_37n +1 known missense c.206 p.S69T 0.001 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A1 HGNC ENSG00000026950 119 0 0.00 75 20 21.05 - - - CDK12 0 genome.wustl.edu 37 17 37687471 37687472 + Frame_Shift_Ins INS - - G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 17 37687471 37687472 - G INS CDK12 ENST00000447079 human ensembl 69_37n +1 known frame_shift_ins c.4375_4376 p.P1463fs 1.000:1.000 NULL 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 CDK12 HGNC ENSG00000167258 60 0 0.00 33 5 13.16 - - - CLCA2 0 genome.wustl.edu 37 1 86919248 86919248 + Silent SNP T T G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 1 86919248 86919248 T G SNP CLCA2 ENST00000370565 human ensembl 69_37n +1 known silent c.2352 p.S784 0.961 tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 182 1 0.54 89 21 19.09 - - - CLCA2 0 genome.wustl.edu 37 1 86919248 86919248 + Silent SNP T T G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 1 86919248 86919248 T G SNP CLCA2 ENST00000370565 human ensembl 69_37n +1 known silent c.2352 p.S784 0.961 tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 145 0 0.00 89 21 19.09 - - - COBLL1 0 genome.wustl.edu 37 2 165551456 165551456 + Missense_Mutation SNP C C T TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 2 165551456 165551456 C T SNP COBLL1 ENST00000194871 human ensembl 69_37n -1 known missense c.2761 p.D921N 0.000 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 109 1 0.91 145 37 20.33 - - - COBLL1 0 genome.wustl.edu 37 2 165551456 165551456 + Missense_Mutation SNP C C T TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 2 165551456 165551456 C T SNP COBLL1 ENST00000194871 human ensembl 69_37n -1 known missense c.2761 p.D921N 0.000 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 142 0 0.00 145 37 20.33 - - - COL11A2 0 genome.wustl.edu 37 6 33135615 33135615 + Frame_Shift_Del DEL C C - TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 6 33135615 33135615 C - DEL COL11A2 ENST00000341947 human ensembl 69_37n -1 known frame_shift_del c.3975 p.P1326fs 0.991 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 39 0 0.00 14 2 12.50 - - - CTRL 0 genome.wustl.edu 37 16 67964902 67964902 + Missense_Mutation SNP C C T TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 16 67964902 67964902 C T SNP CTRL ENST00000574481 human ensembl 69_37n -1 known missense c.157 p.D53N 0.590 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CTRL HGNC ENSG00000141086 8 0 0.00 7 6 46.15 - - - CTRL 0 genome.wustl.edu 37 16 67964902 67964902 + Missense_Mutation SNP C C T TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 16 67964902 67964902 C T SNP CTRL ENST00000574481 human ensembl 69_37n -1 known missense c.157 p.D53N 0.590 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CTRL HGNC ENSG00000141086 29 0 0.00 7 6 46.15 - - - DMD 0 genome.wustl.edu 37 X 31950337 31950337 + Missense_Mutation SNP C C G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 X 31950337 31950337 C G SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.6622 p.E2208Q 1.000 pfam_Spectrin_repeat,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 133 0 0.00 121 20 14.18 - - - DMD 0 genome.wustl.edu 37 X 31950337 31950337 + Missense_Mutation SNP C C G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e X 31950337 31950337 C G SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.6622 p.E2208Q 1.000 pfam_Spectrin_repeat,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 195 0 0.00 121 20 14.18 - - - DNAJB3 0 genome.wustl.edu 37 2 234652466 234652466 + RNA SNP C C T TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 2 234652466 234652466 C T SNP DNAJB3 ENST00000449667 human ensembl 69_37n -1 known rna NULL NULL 0.997 - - - no_errors DNAJB3 HGNC ENSG00000227802 65 0 0.00 33 19 36.54 - - - DNAJB3 0 genome.wustl.edu 37 2 234652466 234652466 + RNA SNP C C T TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 2 234652466 234652466 C T SNP DNAJB3 ENST00000449667 human ensembl 69_37n -1 known rna NULL NULL 0.997 - - - no_errors DNAJB3 HGNC ENSG00000227802 86 0 0.00 33 19 36.54 - - - ELK1 0 genome.wustl.edu 37 X 47500696 47500696 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 X 47500696 47500696 G A SNP ELK1 ENST00000247161 human ensembl 69_37n -1 known missense c.145 p.R49C 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK1 HGNC ENSG00000126767 145 0 0.00 52 13 20.00 - - - ELK1 0 genome.wustl.edu 37 X 47500696 47500696 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e X 47500696 47500696 G A SNP ELK1 ENST00000247161 human ensembl 69_37n -1 known missense c.145 p.R49C 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK1 HGNC ENSG00000126767 104 0 0.00 52 13 20.00 - - - FABP9 0 genome.wustl.edu 37 8 82371416 82371416 + Missense_Mutation SNP T T C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 8 82371416 82371416 T C SNP FABP9 ENST00000379071 human ensembl 69_37n -1 known missense c.230 p.D77G 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP9 HGNC ENSG00000205186 299 0 0.00 213 35 14.11 - - - FABP9 0 genome.wustl.edu 37 8 82371416 82371416 + Missense_Mutation SNP T T C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 8 82371416 82371416 T C SNP FABP9 ENST00000379071 human ensembl 69_37n -1 known missense c.230 p.D77G 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP9 HGNC ENSG00000205186 192 1 0.52 213 35 14.11 - - - HIVEP2 0 genome.wustl.edu 37 6 143093972 143093972 + Missense_Mutation SNP C C A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 6 143093972 143093972 C A SNP HIVEP2 ENST00000012134 human ensembl 69_37n -1 known missense c.1904 p.G635V 0.030 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 92 0 0.00 61 24 28.24 - - - HIVEP2 0 genome.wustl.edu 37 6 143093972 143093972 + Missense_Mutation SNP C C A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 6 143093972 143093972 C A SNP HIVEP2 ENST00000012134 human ensembl 69_37n -1 known missense c.1904 p.G635V 0.030 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 153 0 0.00 61 24 28.24 - - - IGHV3-23 0 genome.wustl.edu 37 14 106725468 106725469 + Frame_Shift_Ins INS - - C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 14 106725468 106725469 - C INS IGHV3-23 ENST00000390609 human ensembl 69_37n -1 known frame_shift_ins c.84_83 p.G29fs 0.002:0.002 pfam_Ig_V-set pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-23 HGNC ENSG00000211949 398 0 0.00 409 46 10.11 - - - IGHV3-23 0 genome.wustl.edu 37 14 106725468 106725469 + Frame_Shift_Ins INS - - C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 14 106725468 106725469 - C INS IGHV3-23 ENST00000390609 human ensembl 69_37n -1 known frame_shift_ins c.84_83 p.G29fs 0.002:0.002 pfam_Ig_V-set pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-23 HGNC ENSG00000211949 407 0 0.00 409 46 10.11 - - - KIAA2022 0 genome.wustl.edu 37 X 73961666 73961666 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 X 73961666 73961666 G A SNP KIAA2022 ENST00000055682 human ensembl 69_37n -1 known missense c.2726 p.A909V 0.344 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 364 0 0.00 270 52 16.10 - - - KIAA2022 0 genome.wustl.edu 37 X 73961666 73961666 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e X 73961666 73961666 G A SNP KIAA2022 ENST00000055682 human ensembl 69_37n -1 known missense c.2726 p.A909V 0.344 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 377 0 0.00 270 52 16.10 - - - KL 0 genome.wustl.edu 37 13 33634928 33634928 + Missense_Mutation SNP A A G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 13 33634928 33634928 A G SNP KL ENST00000380099 human ensembl 69_37n +1 known missense c.1712 p.Y571C 0.937 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 82 0 0.00 37 19 33.33 - - - KL 0 genome.wustl.edu 37 13 33634928 33634928 + Missense_Mutation SNP A A G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 13 33634928 33634928 A G SNP KL ENST00000380099 human ensembl 69_37n +1 known missense c.1712 p.Y571C 0.937 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 111 1 0.89 37 19 33.33 - - - LMOD3 0 genome.wustl.edu 37 3 69168311 69168311 + Nonsense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 3 69168311 69168311 G A SNP LMOD3 ENST00000420581 human ensembl 69_37n -1 known nonsense c.1195 p.Q399* 1.000 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 242 0 0.00 207 38 15.51 - - - LMOD3 0 genome.wustl.edu 37 3 69168311 69168311 + Nonsense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 3 69168311 69168311 G A SNP LMOD3 ENST00000420581 human ensembl 69_37n -1 known nonsense c.1195 p.Q399* 1.000 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 278 0 0.00 207 38 15.51 - - - MAGEB4 0 genome.wustl.edu 37 X 30260727 30260727 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 X 30260727 30260727 G A SNP MAGEB4 ENST00000378982 human ensembl 69_37n +1 known missense c.475 p.E159K 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 81 0 0.00 39 9 18.75 - - - MAGEB4 0 genome.wustl.edu 37 X 30260727 30260727 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e X 30260727 30260727 G A SNP MAGEB4 ENST00000378982 human ensembl 69_37n +1 known missense c.475 p.E159K 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 53 0 0.00 39 9 18.75 - - - MAOA 0 genome.wustl.edu 37 X 43603045 43603046 + Frame_Shift_Ins INS - - T TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e X 43603045 43603046 - T INS MAOA ENST00000338702 human ensembl 69_37n +1 known frame_shift_ins c.1267_1268 p.R424fs 0.720:0.922 pfam_Amino_oxidase,prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase - no_errors MAOA HGNC ENSG00000189221 15 0 0.00 2 2 50.00 - - - MCM4 0 genome.wustl.edu 37 8 48887308 48887308 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 8 48887308 48887308 G A SNP MCM4 ENST00000262105 human ensembl 69_37n +1 known missense c.2151 p.M717I 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 235 0 0.00 154 36 18.95 - - - MCM4 0 genome.wustl.edu 37 8 48887308 48887308 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 8 48887308 48887308 G A SNP MCM4 ENST00000262105 human ensembl 69_37n +1 known missense c.2151 p.M717I 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 216 0 0.00 154 36 18.95 - - - MUC5B 0 genome.wustl.edu 37 11 1264631 1264631 + Missense_Mutation SNP A A G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 11 1264631 1264631 A G SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.6530 p.N2177S 0.024 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 18 0 0.00 7 6 46.15 - - - NF1 0 genome.wustl.edu 37 17 29685563 29685563 + Missense_Mutation SNP A A G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 17 29685563 29685563 A G SNP NF1 ENST00000358273 human ensembl 69_37n +1 known missense c.8036 p.N2679S 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 178 0 0.00 114 17 12.98 - - - NF1 0 genome.wustl.edu 37 17 29685563 29685563 + Missense_Mutation SNP A A G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 17 29685563 29685563 A G SNP NF1 ENST00000358273 human ensembl 69_37n +1 known missense c.8036 p.N2679S 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 139 0 0.00 114 17 12.98 - - - NOC3L 0 genome.wustl.edu 37 10 96121599 96121599 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 10 96121599 96121599 G A SNP NOC3L ENST00000371350 human ensembl 69_37n -1 known missense c.40 p.R14C 1.000 pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 107 0 0.00 108 35 24.31 - - - NOC3L 0 genome.wustl.edu 37 10 96121599 96121599 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 10 96121599 96121599 G A SNP NOC3L ENST00000371350 human ensembl 69_37n -1 known missense c.40 p.R14C 1.000 pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 123 0 0.00 108 35 24.31 - - - OBFC1 0 genome.wustl.edu 37 10 105664860 105664860 + Missense_Mutation SNP T T C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 10 105664860 105664860 T C SNP OBFC1 ENST00000224950 human ensembl 69_37n -1 known missense c.284 p.E95G 0.004 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1 pfam_DUF1879_CST_STN1,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1 - no_errors OBFC1 HGNC ENSG00000107960 342 0 0.00 133 27 16.88 - - - OBFC1 0 genome.wustl.edu 37 10 105664860 105664860 + Missense_Mutation SNP T T C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 10 105664860 105664860 T C SNP OBFC1 ENST00000224950 human ensembl 69_37n -1 known missense c.284 p.E95G 0.004 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1 pfam_DUF1879_CST_STN1,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1 - no_errors OBFC1 HGNC ENSG00000107960 278 0 0.00 133 27 16.88 - - - ODZ2 0 genome.wustl.edu 37 5 167671462 167671462 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 5 167671462 167671462 G A SNP ODZ2 ENST00000518659 human ensembl 69_37n +1 known missense c.5558 p.R1853Q 1.000 superfamily_ConA-like_lec_gl pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ2 HGNC ENSG00000145934 23 0 0.00 13 9 40.91 - - - ODZ2 0 genome.wustl.edu 37 5 167671462 167671462 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 5 167671462 167671462 G A SNP ODZ2 ENST00000518659 human ensembl 69_37n +1 known missense c.5558 p.R1853Q 1.000 superfamily_ConA-like_lec_gl pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ2 HGNC ENSG00000145934 31 0 0.00 13 9 40.91 - - - PCDHB16 0 genome.wustl.edu 37 5 140563931 140563931 + Silent SNP T T C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 5 140563931 140563931 T C SNP PCDHB16 ENST00000361016 human ensembl 69_37n +1 known silent c.1797 p.N599 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 12 0 0.00 7 8 53.33 - - - PCDHGA3 0 genome.wustl.edu 37 5 140724038 140724038 + Silent SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 5 140724038 140724038 G A SNP PCDHGA3 ENST00000253812 human ensembl 69_37n +1 known silent c.438 p.T146 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 115 0 0.00 104 18 14.75 - - - PCDHGA3 0 genome.wustl.edu 37 5 140724038 140724038 + Silent SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 5 140724038 140724038 G A SNP PCDHGA3 ENST00000253812 human ensembl 69_37n +1 known silent c.438 p.T146 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 152 0 0.00 104 18 14.75 - - - PIK3CA 0 genome.wustl.edu 37 3 178951964 178951964 + Missense_Mutation SNP G G C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 3 178951964 178951964 G C SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3019 p.G1007R 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 297 0 0.00 162 88 35.20 - - - PIK3CA 0 genome.wustl.edu 37 3 178951964 178951964 + Missense_Mutation SNP G G C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 3 178951964 178951964 G C SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3019 p.G1007R 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 168 0 0.00 162 88 35.20 - - - PLCL2 0 genome.wustl.edu 37 3 17052713 17052713 + Nonsense_Mutation SNP C C A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 3 17052713 17052713 C A SNP PLCL2 ENST00000418129 human ensembl 69_37n +1 known nonsense c.1497 p.C499* 0.869 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y 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 86 0 0.00 88 24 21.43 - - - PLCL2 0 genome.wustl.edu 37 3 17052713 17052713 + Nonsense_Mutation SNP C C A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 3 17052713 17052713 C A SNP PLCL2 ENST00000418129 human ensembl 69_37n +1 known nonsense c.1497 p.C499* 0.869 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y 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 126 0 0.00 88 24 21.43 - - - PRUNE2 0 genome.wustl.edu 37 9 79259823 79259823 + Missense_Mutation SNP G G T TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 9 79259823 79259823 G T SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.7486 p.P2496T 0.030 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 87 0 0.00 64 13 16.88 - - - PRUNE2 0 genome.wustl.edu 37 9 79259823 79259823 + Missense_Mutation SNP G G T TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 9 79259823 79259823 G T SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.7486 p.P2496T 0.030 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 90 0 0.00 64 13 16.88 - - - PTHLH 0 genome.wustl.edu 37 12 28114898 28114898 + Frame_Shift_Del DEL T T - TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 12 28114898 28114898 T - DEL PTHLH ENST00000354417 human ensembl 69_37n -1 known frame_shift_del c.557 p.K186fs 0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 25 0 0.00 22 4 15.38 - - - RIMS2 0 genome.wustl.edu 37 8 104709351 104709351 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 8 104709351 104709351 G A SNP RIMS2 ENST00000406091 human ensembl 69_37n +1 known missense c.214 p.V72I 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 245 0 0.00 327 39 10.66 - - - RIMS2 0 genome.wustl.edu 37 8 104709351 104709351 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 8 104709351 104709351 G A SNP RIMS2 ENST00000406091 human ensembl 69_37n +1 known missense c.214 p.V72I 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 268 0 0.00 327 39 10.66 - - - SHROOM2 0 genome.wustl.edu 37 X 9905450 9905451 + Frame_Shift_Ins INS - - C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 X 9905450 9905451 - C INS SHROOM2 ENST00000380913 human ensembl 69_37n +1 known frame_shift_ins c.3864_3865 p.E1290fs 0.000:0.001 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 13 0 0.00 10 2 16.67 - - - TTN 0 genome.wustl.edu 37 2 179604078 179604078 + Missense_Mutation SNP A A G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 2 179604078 179604078 A G SNP TTN ENST00000342175 human ensembl 69_37n -1 known missense c.13369 p.S4457P 0.222 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 154 0 0.00 168 23 12.04 - - - TTN 0 genome.wustl.edu 37 2 179604078 179604078 + Missense_Mutation SNP A A G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 2 179604078 179604078 A G SNP TTN ENST00000342175 human ensembl 69_37n -1 known missense c.13369 p.S4457P 0.222 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 192 0 0.00 168 23 12.04 - - - USP54 0 genome.wustl.edu 37 10 75277121 75277121 + Silent SNP A A C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 10 75277121 75277121 A C SNP USP54 ENST00000339859 human ensembl 69_37n -1 known silent c.3063 p.A1021 0.800 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC ENSG00000166348 137 0 0.00 51 10 16.39 - - - USP54 0 genome.wustl.edu 37 10 75277121 75277121 + Silent SNP A A C TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 10 75277121 75277121 A C SNP USP54 ENST00000339859 human ensembl 69_37n -1 known silent c.3063 p.A1021 0.800 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC ENSG00000166348 81 0 0.00 51 10 16.39 - - - XIST 0 genome.wustl.edu 37 X 73043145 73043145 + RNA DEL T T - TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 X 73043145 73043145 T - DEL XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 25 0 0.00 70 11 13.25 - - - ZNF124 0 genome.wustl.edu 37 1 247320267 247320267 + Silent SNP A A G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 71bbe21d-80fd-49be-ae4b-041f0ed1e617 1 247320267 247320267 A G SNP ZNF124 ENST00000543802 human ensembl 69_37n -1 known silent c.657 p.N219 0.009 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 ZNF124 HGNC ENSG00000196418 196 0 0.00 245 80 24.62 - - - ZNF124 0 genome.wustl.edu 37 1 247320267 247320267 + Silent SNP A A G TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6be3dccb-12f8-4ef5-962f-21a0b26f81ad 50589b20-69ac-484a-9fe8-d988a891d86e 1 247320267 247320267 A G SNP ZNF124 ENST00000543802 human ensembl 69_37n -1 known silent c.657 p.N219 0.009 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 ZNF124 HGNC ENSG00000196418 243 0 0.00 245 80 24.62 - - -