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 AADACL2 0 genome.wustl.edu 37 3 151474973 151474973 + Missense_Mutation SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 3 151474973 151474973 G A SNP AADACL2 ENST00000356517 human ensembl 69_37n +1 known missense c.797 p.R266K 0.009 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 227 0 0.00 81 83 50.30 - - - ABCB10 0 genome.wustl.edu 37 1 229663041 229663041 + Missense_Mutation SNP C C G TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 1 229663041 229663041 C G SNP ABCB10 ENST00000344517 human ensembl 69_37n -1 known missense c.1660 p.D554H 0.998 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB10 HGNC ENSG00000135776 129 0 0.00 120 20 14.29 - - - ALX3 0 genome.wustl.edu 37 1 110603460 110603461 + Frame_Shift_Ins INS - - C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 1 110603460 110603461 - C INS ALX3 ENST00000369792 human ensembl 69_37n -1 known frame_shift_ins c.927_926 p.H310fs 1.000:1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ALX3 HGNC ENSG00000156150 31 0 0.00 12 2 14.29 - - - AMHR2 0 genome.wustl.edu 37 12 53819509 53819509 + Missense_Mutation SNP G G C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 12 53819509 53819509 G C SNP AMHR2 ENST00000257863 human ensembl 69_37n +1 known missense c.658 p.G220R 0.814 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,pirsf_Anti-muellerian_hrmn_rcpt_II,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,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom - no_errors AMHR2 HGNC ENSG00000135409 108 0 0.00 34 53 60.23 - - - ANAPC5 0 genome.wustl.edu 37 12 121746366 121746366 + Nonsense_Mutation SNP C C A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 12 121746366 121746366 C A SNP ANAPC5 ENST00000261819 human ensembl 69_37n -1 known nonsense c.2185 p.E729* 1.000 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 101 0 0.00 59 48 44.86 - - - AP3M1 0 genome.wustl.edu 37 10 75884140 75884140 + Missense_Mutation SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 10 75884140 75884140 G A SNP AP3M1 ENST00000355264 human ensembl 69_37n -1 known missense c.1154 p.S385L 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M1 HGNC ENSG00000185009 327 2 0.61 136 169 55.41 - - - BBC3 0 genome.wustl.edu 37 19 47725018 47725019 + Frame_Shift_Ins INS - - C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 19 47725018 47725019 - C INS BBC3 ENST00000449228 human ensembl 69_37n -1 known frame_shift_ins c.726_725 p.R243fs 1.000:1.000 NULL NULL - no_errors BBC3 HGNC ENSG00000105327 23 0 0.00 15 2 11.76 - - - C10orf137 0 genome.wustl.edu 37 10 127429725 127429725 + Missense_Mutation SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 10 127429725 127429725 G A SNP C10orf137 ENST00000356792 human ensembl 69_37n +1 known missense c.2326 p.D776N 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 156 0 0.00 108 44 28.76 - - - C6orf211 0 genome.wustl.edu 37 6 151789511 151789511 + Missense_Mutation SNP C C A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 6 151789511 151789511 C A SNP C6orf211 ENST00000367294 human ensembl 69_37n +1 known missense c.592 p.L198I 0.401 pfam_DUF89,superfamily_DUF89 pfam_DUF89,superfamily_DUF89 - no_errors C6orf211 HGNC ENSG00000146476 62 0 0.00 44 35 44.30 - - - CKMT2 0 genome.wustl.edu 37 5 80562003 80562003 + Missense_Mutation SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 5 80562003 80562003 G A SNP CKMT2 ENST00000254035 human ensembl 69_37n +1 known missense c.1186 p.D396N 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT2 HGNC ENSG00000131730 308 0 0.00 138 117 45.70 - - - CLCN2 0 genome.wustl.edu 37 3 184070098 184070098 + Missense_Mutation SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 3 184070098 184070098 C T SNP CLCN2 ENST00000265593 human ensembl 69_37n -1 known missense c.2293 p.E765K 0.958 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 49 0 0.00 21 8 26.67 - - - COASY 0 genome.wustl.edu 37 17 40714751 40714752 + Frame_Shift_Ins INS - - T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 17 40714751 40714752 - T INS COASY ENST00000590958 human ensembl 69_37n +1 known frame_shift_ins c.198_199 p.Y66fs 0.915:1.000 NULL pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 22 0 0.00 18 3 14.29 - - - COG8 0 genome.wustl.edu 37 16 69370510 69370510 + Missense_Mutation SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 16 69370510 69370510 G A SNP COG8 ENST00000562595 human ensembl 69_37n -1 putative missense c.424 p.H142Y 0.838 pfam_Dor1 pfam_Dor1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region COG8 HGNC ENSG00000213380 118 0 0.00 109 24 18.05 - - - CXorf38 0 genome.wustl.edu 37 X 40489945 40489945 + Silent SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 X 40489945 40489945 C T SNP CXorf38 ENST00000327877 human ensembl 69_37n -1 known silent c.882 p.Q294 1.000 NULL NULL - no_errors CXorf38 HGNC ENSG00000185753 294 0 0.00 160 46 22.22 - - - DACH2 0 genome.wustl.edu 37 X 85404051 85404051 + Missense_Mutation SNP C C G TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 X 85404051 85404051 C G SNP DACH2 ENST00000373125 human ensembl 69_37n +1 known missense c.427 p.R143G 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 189 0 0.00 116 87 42.86 - - - DDB2 0 genome.wustl.edu 37 11 47259551 47259551 + Missense_Mutation SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 11 47259551 47259551 C T SNP DDB2 ENST00000256996 human ensembl 69_37n +1 known missense c.1187 p.S396L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DDB2 HGNC ENSG00000134574 76 0 0.00 48 9 15.52 - - - DHX16 0 genome.wustl.edu 37 6 30624026 30624026 + Frame_Shift_Del DEL G G - TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 6 30624026 30624026 G - DEL DHX16 ENST00000376442 human ensembl 69_37n -1 known frame_shift_del c.2447 p.A816fs 1.000 pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 32 0 0.00 38 18 31.58 - - - DHX57 0 genome.wustl.edu 37 2 39050359 39050359 + Nonsense_Mutation SNP G G T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 2 39050359 39050359 G T SNP DHX57 ENST00000452978 human ensembl 69_37n -1 novel nonsense c.1037 p.S346* 1.000 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DHX57 HGNC ENSG00000163214 81 0 0.00 100 12 10.71 - - - DOCK9 0 genome.wustl.edu 37 13 99460026 99460026 + Missense_Mutation SNP A A C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 13 99460026 99460026 A C SNP DOCK9 ENST00000339416 human ensembl 69_37n -1 known missense c.5406 p.I1802M 0.999 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 282 1 0.35 197 38 16.03 - - - FAM151A 0 genome.wustl.edu 37 1 55075435 55075435 + Missense_Mutation SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 1 55075435 55075435 G A SNP FAM151A ENST00000302250 human ensembl 69_37n -1 known missense c.1264 p.R422W 1.000 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 60 0 0.00 32 4 11.11 - - - FLG2 0 genome.wustl.edu 37 1 152328629 152328629 + Missense_Mutation SNP G G T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 1 152328629 152328629 G T SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known missense c.1633 p.Q545K 0.079 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 268 1 0.37 165 27 14.06 - - - GATA3 0 genome.wustl.edu 37 10 8115955 8115955 + Frame_Shift_Del DEL A A - TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 10 8115955 8115955 A - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_del c.1304 p.H435fs 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 72 0 0.00 47 27 31.76 - - - GCKR 0 genome.wustl.edu 37 2 27722054 27722054 + Missense_Mutation SNP C C A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 2 27722054 27722054 C A SNP GCKR ENST00000264717 human ensembl 69_37n +1 known missense c.474 p.H158Q 0.016 NULL NULL - no_errors GCKR HGNC ENSG00000084734 129 1 0.77 77 29 27.10 - - - GTF2F2 0 genome.wustl.edu 37 13 45694817 45694817 + Silent SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 13 45694817 45694817 G A SNP GTF2F2 ENST00000340473 human ensembl 69_37n +1 known silent c.27 p.L9 1.000 pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr - no_errors GTF2F2 HGNC ENSG00000188342 70 0 0.00 37 26 41.27 - - - HHAT 0 genome.wustl.edu 37 1 210847683 210847683 + Missense_Mutation SNP G G T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 1 210847683 210847683 G T SNP HHAT ENST00000545154 human ensembl 69_37n +1 known missense c.1447 p.V483L 0.996 NULL pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 79 0 0.00 60 17 22.08 - - - HSPG2 0 genome.wustl.edu 37 1 22157965 22157965 + Missense_Mutation SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 1 22157965 22157965 C T SNP HSPG2 ENST00000374695 human ensembl 69_37n -1 known missense c.11443 p.G3815S 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 66 0 0.00 53 22 29.33 - - - IPCEF1 0 genome.wustl.edu 37 6 154521037 154521038 + Frame_Shift_Del DEL TG TG - TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 6 154521037 154521038 TG - DEL IPCEF1 ENST00000367220 human ensembl 69_37n -1 known frame_shift_del c.675_674 p.T225fs 0.000:0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 191 0 0.00 126 18 12.41 - - - ISLR2 0 genome.wustl.edu 37 15 74426742 74426742 + Silent SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 15 74426742 74426742 C T SNP ISLR2 ENST00000361742 human ensembl 69_37n +1 known silent c.1647 p.G549 0.988 superfamily_Fibronectin_type3 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 13 0 0.00 8 8 50.00 - - - KCNJ12 0 genome.wustl.edu 37 17 21319341 21319341 + Silent SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 17 21319341 21319341 C T SNP KCNJ12 ENST00000331718 human ensembl 69_37n +1 known silent c.687 p.R229 0.231 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 37 0 0.00 20 10 33.33 - - - KIF1C 0 genome.wustl.edu 37 17 4925966 4925966 + Missense_Mutation SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 17 4925966 4925966 C T SNP KIF1C ENST00000320785 human ensembl 69_37n +1 known missense c.2590 p.R864C 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 84 0 0.00 13 23 63.89 - - - LENG9 0 genome.wustl.edu 37 19 54973945 54973946 + Frame_Shift_Ins INS - - C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 19 54973945 54973946 - C INS LENG9 ENST00000333834 human ensembl 69_37n -1 known frame_shift_ins c.831_830 p.K278fs 0.000:0.000 NULL superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC ENSG00000182909 8 0 0.00 8 2 20.00 - - - LINC00200 0 genome.wustl.edu 37 10 1206562 1206562 + RNA SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 10 1206562 1206562 C T SNP LINC00200 ENST00000425630 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors LINC00200 HGNC ENSG00000229205 65 0 0.00 50 10 16.67 - - - MAP3K1 0 genome.wustl.edu 37 5 56168740 56168740 + Nonsense_Mutation SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 5 56168740 56168740 C T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel nonsense c.1594 p.R532* 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 233 0 0.00 105 75 41.67 - - - MAP3K1 0 genome.wustl.edu 37 5 56170880 56170880 + Frame_Shift_Del DEL G G - TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 5 56170880 56170880 G - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.1708 p.G570fs 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 206 0 0.00 124 46 26.44 - - - MUC4 0 genome.wustl.edu 37 3 195507062 195507062 + Missense_Mutation SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 3 195507062 195507062 C T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.11389 p.D3797N 0.860 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 11 0 0.00 21 9 30.00 - - - MUC4 0 genome.wustl.edu 37 3 195510156 195510156 + Silent SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 3 195510156 195510156 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.8295 p.H2765 0.035 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 12 0 0.00 24 14 32.56 - - - NBPF1 0 genome.wustl.edu 37 1 16899669 16899669 + RNA SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 1 16899669 16899669 C T SNP NBPF1 ENST00000287968 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors NBPF1 HGNC ENSG00000219481 28 0 0.00 56 8 12.50 - - - NCOR2 0 genome.wustl.edu 37 12 124816874 124816874 + Missense_Mutation SNP G G C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 12 124816874 124816874 G C SNP NCOR2 ENST00000356219 human ensembl 69_37n -1 known missense c.6916 p.P2306A 0.990 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 35 0 0.00 27 7 20.59 - - - NEFM 0 genome.wustl.edu 37 8 24774763 24774763 + Missense_Mutation SNP G G C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 8 24774763 24774763 G C SNP NEFM ENST00000221166 human ensembl 69_37n +1 known missense c.1395 p.E465D 0.998 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 121 0 0.00 58 62 51.67 - - - NEFM 0 genome.wustl.edu 37 8 24775733 24775733 + Missense_Mutation SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 8 24775733 24775733 G A SNP NEFM ENST00000221166 human ensembl 69_37n +1 known missense c.2365 p.D789N 0.163 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 224 0 0.00 89 99 52.66 - - - NFRKB 0 genome.wustl.edu 37 11 129762649 129762649 + Silent SNP T T C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 11 129762649 129762649 T C SNP NFRKB ENST00000524794 human ensembl 69_37n -1 known silent c.135 p.G45 0.423 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 333 2 0.60 338 76 18.31 - - - NINL 0 genome.wustl.edu 37 20 25507207 25507207 + Missense_Mutation SNP T T G TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 20 25507207 25507207 T G SNP NINL ENST00000278886 human ensembl 69_37n -1 known missense c.17 p.N6T 0.048 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 100 1 0.99 69 31 31.00 - - - PAX2 0 genome.wustl.edu 37 10 102509528 102509529 + Frame_Shift_Ins INS - - G TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 10 102509528 102509529 - G INS PAX2 ENST00000370296 human ensembl 69_37n +1 known frame_shift_ins c.69_70 p.V25fs 1.000:1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 26 0 0.00 22 4 15.38 - - - PCDHA9 0 genome.wustl.edu 37 5 140229589 140229589 + Silent SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 5 140229589 140229589 G A SNP PCDHA9 ENST00000532602 human ensembl 69_37n +1 known silent c.1509 p.S503 0.770 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 PCDHA9 HGNC ENSG00000204961 23 0 0.00 5 12 70.59 - - - PEBP1 0 genome.wustl.edu 37 12 118574086 118574086 + Silent SNP G G C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 12 118574086 118574086 G C SNP PEBP1 ENST00000261313 human ensembl 69_37n +1 known silent c.72 p.P24 0.994 pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors PEBP1 HGNC ENSG00000089220 21 0 0.00 6 4 40.00 - - - PLCG2 0 genome.wustl.edu 37 16 81902858 81902858 + Silent SNP C C A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 16 81902858 81902858 C A SNP PLCG2 ENST00000359376 human ensembl 69_37n +1 known silent c.519 p.I173 1.000 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCG2 HGNC ENSG00000197943 86 0 0.00 31 11 26.19 - - - PLG 0 genome.wustl.edu 37 6 161173261 161173261 + Missense_Mutation SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 6 161173261 161173261 G A SNP PLG ENST00000308192 human ensembl 69_37n +1 known missense c.2240 p.G747E 0.004 pirsf_Pept_S1A_plasmin,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors PLG HGNC ENSG00000122194 143 0 0.00 138 22 13.66 - - - POLG 0 genome.wustl.edu 37 15 89870412 89870412 + Silent SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 15 89870412 89870412 C T SNP POLG ENST00000268124 human ensembl 69_37n -1 known silent c.1419 p.L473 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 36 0 0.00 74 12 13.95 - - - PPL 0 genome.wustl.edu 37 16 4944499 4944500 + Frame_Shift_Ins INS - - G TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 16 4944499 4944500 - G INS PPL ENST00000345988 human ensembl 69_37n -1 known frame_shift_ins c.1363_1362 p.T454fs 0.994:0.933 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 29 0 0.00 26 4 13.33 - - - PRKAR1A 0 genome.wustl.edu 37 17 66521903 66521903 + Nonstop_Mutation SNP T T C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 17 66521903 66521903 T C SNP PRKAR1A ENST00000588188 human ensembl 69_37n +1 putative nonstop c.556 p.*186Q 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRKAR1A HGNC ENSG00000108946 168 0 0.00 159 29 15.43 - - - PTEN 0 genome.wustl.edu 37 10 89692794 89692794 + Missense_Mutation SNP A A T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 10 89692794 89692794 A T SNP PTEN ENST00000371953 human ensembl 69_37n +1 known missense c.278 p.H93L 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 271 0 0.00 44 69 61.06 - - - RAD18 0 genome.wustl.edu 37 3 8932110 8932110 + Missense_Mutation SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 3 8932110 8932110 G A SNP RAD18 ENST00000264926 human ensembl 69_37n -1 known missense c.1348 p.L450F 0.059 NULL pfam_SAP_DNA-bd,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_DNA-bd,pfscan_Znf_RING,pfscan_SAP_DNA-bd - no_errors RAD18 HGNC ENSG00000070950 262 0 0.00 104 46 30.67 - - - RBM10 0 genome.wustl.edu 37 X 47044963 47044963 + Silent SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 X 47044963 47044963 C T SNP RBM10 ENST00000377604 human ensembl 69_37n +1 known silent c.2289 p.L763 0.978 pfscan_Znf_C2H2 pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 44 0 0.00 65 15 18.75 - - - RIF1 0 genome.wustl.edu 37 2 152285358 152285358 + Missense_Mutation SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 2 152285358 152285358 C T SNP RIF1 ENST00000243326 human ensembl 69_37n +1 known missense c.847 p.R283C 1.000 pfam_Rif1_N,superfamily_ARM-type_fold pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 379 0 0.00 187 29 13.36 - - - RPS6KA1 0 genome.wustl.edu 37 1 26885310 26885311 + Frame_Shift_Ins INS - - C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 1 26885310 26885311 - C INS RPS6KA1 ENST00000531382 human ensembl 69_37n +1 known frame_shift_ins c.1124_1125 p.S378fs 1.000:0.993 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 28 0 0.00 17 6 26.09 - - - RUSC1 0 genome.wustl.edu 37 1 155295022 155295023 + RNA INS - - G TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 1 155295022 155295023 - G INS RUSC1 ENST00000462780 human ensembl 69_37n +1 known rna NULL NULL 0.001:0.001 - - - no_errors RUSC1 HGNC ENSG00000160753 54 0 0.00 27 3 10.00 - - - SLC38A10 0 genome.wustl.edu 37 17 79226469 79226469 + Missense_Mutation SNP C C A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 17 79226469 79226469 C A SNP SLC38A10 ENST00000374759 human ensembl 69_37n -1 known missense c.1471 p.V491L 0.013 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 11 0 0.00 10 6 37.50 - - - SMCR8 0 genome.wustl.edu 37 17 18221216 18221216 + Frame_Shift_Del DEL A A - TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 17 18221216 18221216 A - DEL SMCR8 ENST00000406438 human ensembl 69_37n +1 known frame_shift_del c.2113 p.R705fs 1.000 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 50 0 0.00 32 21 36.84 - - - SP100 0 genome.wustl.edu 37 2 231367806 231367806 + Missense_Mutation SNP G G C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 2 231367806 231367806 G C SNP SP100 ENST00000340126 human ensembl 69_37n +1 known missense c.1746 p.L582F 0.002 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 207 0 0.00 39 30 43.48 - - - STK31 0 genome.wustl.edu 37 7 23871977 23871977 + Missense_Mutation SNP G G C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 7 23871977 23871977 G C SNP STK31 ENST00000355870 human ensembl 69_37n +1 known missense c.3052 p.D1018H 0.045 pfscan_Prot_kinase_cat_dom pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom - no_errors STK31 HGNC ENSG00000196335 93 0 0.00 67 37 35.58 - - - TMEM247 0 genome.wustl.edu 37 2 46707888 46707888 + Frame_Shift_Del DEL G G - TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 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 28 0 0.00 16 3 15.79 - - - TMPRSS6 0 genome.wustl.edu 37 22 37485669 37485669 + Missense_Mutation SNP C C G TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 22 37485669 37485669 C G SNP TMPRSS6 ENST00000381792 human ensembl 69_37n -1 known missense c.785 p.R262P 1.000 pirsf_Pept_S1A_matriptase-2,superfamily_CUB pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS6 HGNC ENSG00000187045 21 0 0.00 14 7 33.33 - - - TMTC2 0 genome.wustl.edu 37 12 83526091 83526091 + Missense_Mutation SNP G G C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 12 83526091 83526091 G C SNP TMTC2 ENST00000321196 human ensembl 69_37n +1 known missense c.2434 p.D812H 1.000 pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 89 0 0.00 71 19 21.11 - - - UBE4A 0 genome.wustl.edu 37 11 118239367 118239367 + Missense_Mutation SNP A A G TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 11 118239367 118239367 A G SNP UBE4A ENST00000431736 human ensembl 69_37n +1 known missense c.143 p.D48G 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 142 0 0.00 56 40 41.24 - - - USP11 0 genome.wustl.edu 37 X 47092577 47092577 + Silent SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 X 47092577 47092577 C T SNP USP11 ENST00000218348 human ensembl 69_37n +1 known silent c.264 p.G88 0.234 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ENSG00000102226 27 0 0.00 27 6 18.18 - - - WAS 0 genome.wustl.edu 37 X 48547798 48547798 + Silent SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 X 48547798 48547798 G A SNP WAS ENST00000376701 human ensembl 69_37n +1 known silent c.1428 p.K476 1.000 superfamily_WASP_C pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WAS HGNC ENSG00000015285 159 0 0.00 328 73 18.20 - - - WDR67 0 genome.wustl.edu 37 8 124162367 124162367 + Silent SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 8 124162367 124162367 G A SNP WDR67 ENST00000287380 human ensembl 69_37n +1 known silent c.3066 p.Q1022 0.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC ENSG00000156787 106 0 0.00 71 21 22.58 - - - WHAMMP3 0 genome.wustl.edu 37 15 23201529 23201529 + RNA SNP G G C TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 15 23201529 23201529 G C SNP WHAMMP3 ENST00000400153 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors WHAMMP3 HGNC ENSG00000187667 52 0 0.00 38 12 24.00 - - - ZAN 0 genome.wustl.edu 37 7 100365499 100365499 + Missense_Mutation SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 7 100365499 100365499 C T SNP ZAN ENST00000546292 human ensembl 69_37n +1 known missense c.4906 p.R1636W 0.683 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 65 0 0.00 137 23 14.29 - - - ZFHX3 0 genome.wustl.edu 37 16 72993144 72993144 + Missense_Mutation SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 16 72993144 72993144 C T SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known missense c.901 p.A301T 1.000 smart_Znf_C2H2-like pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 87 0 0.00 24 8 25.00 - - - ZNF192P1 0 genome.wustl.edu 37 6 28135014 28135014 + RNA SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 6 28135014 28135014 G A SNP ZNF192P1 ENST00000440790 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ZNF192P1 HGNC ENSG00000226314 179 0 0.00 170 42 19.72 - - - ZNF75D 0 genome.wustl.edu 37 X 134427818 134427818 + Silent SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 648cee86-f2e7-45a0-abf2-0ab0037e2eee ffcf5f3e-608f-4d7d-ac3a-b79a45325ff4 X 134427818 134427818 G A SNP ZNF75D ENST00000370766 human ensembl 69_37n -1 known silent c.249 p.H83 0.135 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 82 0 0.00 73 11 13.10 - - -