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 AARS 0 genome.wustl.edu 37 16 70296374 70296374 + Missense_Mutation SNP C C A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 16 70296374 70296374 C A SNP AARS ENST00000261772 human ensembl 69_37n -1 known missense c.1546 p.V516L 0.999 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc - no_errors AARS HGNC ENSG00000090861 91 0 0.00 101 20 16.53 - - - ADAM33 0 genome.wustl.edu 37 20 3649962 3649962 + Silent SNP G G C TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 20 3649962 3649962 G C SNP ADAM33 ENST00000356518 human ensembl 69_37n -1 known silent c.2388 p.V796 0.009 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 143 0 0.00 135 18 11.76 - - - AKR1C3 0 genome.wustl.edu 37 10 5141532 5141532 + Missense_Mutation SNP G G T TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 10 5141532 5141532 G T SNP AKR1C3 ENST00000380554 human ensembl 69_37n +1 known missense c.461 p.C154F 0.999 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C3 HGNC ENSG00000196139 226 0 0.00 175 49 21.88 - - - AMPD1 0 genome.wustl.edu 37 1 115236070 115236070 + Splice_Site SNP T T A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 1 115236070 115236070 T A SNP AMPD1 ENST00000520113 human ensembl 69_37n -1 known splice_site c.122-2 e2-2 1.000 - - - no_errors AMPD1 HGNC ENSG00000116748 161 1 0.62 104 13 11.11 - - - ARHGAP29 0 genome.wustl.edu 37 1 94639535 94639535 + Missense_Mutation SNP C C A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 1 94639535 94639535 C A SNP ARHGAP29 ENST00000260526 human ensembl 69_37n -1 known missense c.3676 p.D1226Y 0.002 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 102 1 0.97 84 13 13.40 - - - ASH1L 0 genome.wustl.edu 37 1 155313175 155313175 + Silent SNP G G A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 1 155313175 155313175 G A SNP ASH1L ENST00000368346 human ensembl 69_37n -1 known silent c.8238 p.L2746 0.818 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 188 0 0.00 233 36 13.33 - - - ASIC5 0 genome.wustl.edu 37 4 156764876 156764876 + Missense_Mutation SNP G G A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 4 156764876 156764876 G A SNP ASIC5 ENST00000537611 human ensembl 69_37n -1 known missense c.818 p.S273L 0.267 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 86 0 0.00 67 10 12.99 - - - C8orf31 0 genome.wustl.edu 37 8 144126108 144126108 + Missense_Mutation SNP G G C TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 8 144126108 144126108 G C SNP C8orf31 ENST00000395172 human ensembl 69_37n +1 known missense c.229 p.D77H 0.000 NULL NULL - no_errors C8orf31 HGNC ENSG00000177335 33 0 0.00 72 11 13.25 - - - CACNA1B 0 genome.wustl.edu 37 9 140970313 140970313 + Missense_Mutation SNP C C T TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 9 140970313 140970313 C T SNP CACNA1B ENST00000371355 human ensembl 69_37n +1 known missense c.4903 p.R1635C 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 116 1 0.85 56 19 25.33 - - - CDCA2 0 genome.wustl.edu 37 8 25365051 25365051 + Missense_Mutation SNP C C G TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 8 25365051 25365051 C G SNP CDCA2 ENST00000330560 human ensembl 69_37n +1 known missense c.2869 p.P957A 0.000 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 116 0 0.00 59 9 13.24 - - - CDKL5 0 genome.wustl.edu 37 X 18631363 18631363 + Missense_Mutation SNP C C A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 X 18631363 18631363 C A SNP CDKL5 ENST00000379989 human ensembl 69_37n +1 known missense c.2244 p.N748K 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 CDKL5 HGNC ENSG00000008086 246 0 0.00 155 28 15.30 - - - CENPE 0 genome.wustl.edu 37 4 104098112 104098112 + Missense_Mutation SNP T T G TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 4 104098112 104098112 T G SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.1334 p.N445T 0.000 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 463 0 0.00 266 62 18.90 - - - CHD9 0 genome.wustl.edu 37 16 53338403 53338403 + Missense_Mutation SNP G G C TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 16 53338403 53338403 G C SNP CHD9 ENST00000398510 human ensembl 69_37n +1 known missense c.6485 p.G2162A 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 446 0 0.00 292 42 12.57 - - - COL6A5 0 genome.wustl.edu 37 3 130098667 130098667 + Silent SNP G G A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 3 130098667 130098667 G A SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known silent c.1074 p.A358 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 91 0 0.00 49 13 20.97 - - - DCHS2 0 genome.wustl.edu 37 4 155287566 155287566 + Frame_Shift_Del DEL G G - TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 4 155287566 155287566 G - DEL DCHS2 ENST00000357232 human ensembl 69_37n -1 known frame_shift_del c.490 p.R164fs 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 92 0 0.00 103 22 17.05 - - - ERI2 0 genome.wustl.edu 37 16 20812611 20812611 + Missense_Mutation SNP T T A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 16 20812611 20812611 T A SNP ERI2 ENST00000357967 human ensembl 69_37n -1 known missense c.374 p.Q125L 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI2 HGNC ENSG00000196678 120 0 0.00 59 12 16.90 - - - ERN2 0 genome.wustl.edu 37 16 23711935 23711935 + Missense_Mutation SNP A A T TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 16 23711935 23711935 A T SNP ERN2 ENST00000256797 human ensembl 69_37n -1 known missense c.1594 p.S532T 0.002 NULL pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom - no_errors ERN2 HGNC ENSG00000134398 79 0 0.00 49 10 16.95 - - - HLA-A 0 genome.wustl.edu 37 6 29912153 29912153 + Missense_Mutation SNP A A G TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 6 29912153 29912153 A G SNP HLA-A ENST00000376806 human ensembl 69_37n +1 known missense c.874 p.K292E 0.213 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 32 0 0.00 53 8 13.11 - - - HPS3 0 genome.wustl.edu 37 3 148875176 148875176 + Missense_Mutation SNP A A C TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 3 148875176 148875176 A C SNP HPS3 ENST00000296051 human ensembl 69_37n +1 known missense c.1549 p.S517R 1.000 pirsf_BLOC-2_complex_Hps3_subunit pirsf_BLOC-2_complex_Hps3_subunit - no_errors HPS3 HGNC ENSG00000163755 163 0 0.00 121 16 11.68 - - - HSPA2 0 genome.wustl.edu 37 14 65007625 65007625 + Missense_Mutation SNP G G T TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 14 65007625 65007625 G T SNP HSPA2 ENST00000247207 human ensembl 69_37n +1 known missense c.58 p.G20W 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 38 0 0.00 30 5 14.29 - - - LIPG 0 genome.wustl.edu 37 18 47093896 47093896 + Missense_Mutation SNP G G C TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 18 47093896 47093896 G C SNP LIPG ENST00000261292 human ensembl 69_37n +1 known missense c.364 p.D122H 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep,pfscan_LipOase_LH2 - no_errors LIPG HGNC ENSG00000101670 94 0 0.00 73 11 13.10 - - - NCR1 0 genome.wustl.edu 37 19 55417945 55417945 + Silent SNP G G A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 19 55417945 55417945 G A SNP NCR1 ENST00000291890 human ensembl 69_37n +1 known silent c.135 p.V45 0.000 smart_Ig_sub smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 76 0 0.00 59 9 13.24 - - - PIGQ 0 genome.wustl.edu 37 16 625917 625917 + Missense_Mutation SNP C C A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 16 625917 625917 C A SNP PIGQ ENST00000026218 human ensembl 69_37n +1 known missense c.768 p.H256Q 0.998 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 45 0 0.00 52 9 14.75 - - - PIK3C2B 0 genome.wustl.edu 37 1 204408104 204408104 + Missense_Mutation SNP A A G TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 1 204408104 204408104 A G SNP PIK3C2B ENST00000367187 human ensembl 69_37n -1 known missense c.3475 p.W1159R 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_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 80 0 0.00 64 16 20.00 - - - RAB1A 0 genome.wustl.edu 37 2 65315732 65315732 + Missense_Mutation SNP C C G TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 2 65315732 65315732 C G SNP RAB1A ENST00000409784 human ensembl 69_37n -1 known missense c.513 p.E171D 1.000 pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB1A HGNC ENSG00000138069 153 0 0.00 81 20 19.80 - - - RBM12B 0 genome.wustl.edu 37 8 94748065 94748065 + Nonsense_Mutation SNP G G A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 8 94748065 94748065 G A SNP RBM12B ENST00000399300 human ensembl 69_37n -1 known nonsense c.574 p.R192* 0.998 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 162 0 0.00 124 17 12.06 - - - RCAN3 0 genome.wustl.edu 37 1 24859683 24859683 + Missense_Mutation SNP C C T TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 1 24859683 24859683 C T SNP RCAN3 ENST00000482807 human ensembl 69_37n +1 known missense c.80 p.A27V 0.082 pfam_Calcipressin pfam_Calcipressin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RCAN3 HGNC ENSG00000117602 139 0 0.00 117 17 12.69 - - - RGS20 0 genome.wustl.edu 37 8 54791869 54791869 + Missense_Mutation SNP G G A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 8 54791869 54791869 G A SNP RGS20 ENST00000297313 human ensembl 69_37n +1 known missense c.217 p.G73S 0.001 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS20 HGNC ENSG00000147509 51 0 0.00 21 7 25.00 - - - SELL 0 genome.wustl.edu 37 1 169673765 169673765 + Missense_Mutation SNP T T C TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 1 169673765 169673765 T C SNP SELL ENST00000236147 human ensembl 69_37n -1 known missense c.749 p.E250G 0.000 pirsf_L-selectin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily pirsf_L-selectin,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EGF-like,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 131 0 0.00 98 21 17.65 - - - SERINC1 0 genome.wustl.edu 37 6 122775305 122775305 + Missense_Mutation SNP A A G TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 6 122775305 122775305 A G SNP SERINC1 ENST00000339697 human ensembl 69_37n -1 known missense c.442 p.F148L 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC1 HGNC ENSG00000111897 92 0 0.00 76 11 12.64 - - - SLITRK1 0 genome.wustl.edu 37 13 84454496 84454496 + Missense_Mutation SNP G G C TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 13 84454496 84454496 G C SNP SLITRK1 ENST00000377084 human ensembl 69_37n -1 known missense c.1147 p.R383G 0.996 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 80 0 0.00 91 14 13.33 - - - SMC6 0 genome.wustl.edu 37 2 17902510 17902510 + Missense_Mutation SNP G G A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 2 17902510 17902510 G A SNP SMC6 ENST00000381272 human ensembl 69_37n -1 known missense c.823 p.R275C 1.000 NULL NULL - no_errors SMC6 HGNC ENSG00000163029 178 0 0.00 104 34 24.64 - - - SUB1 0 genome.wustl.edu 37 5 32601185 32601185 + Silent SNP C C T TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 5 32601185 32601185 C T SNP SUB1 ENST00000265073 human ensembl 69_37n +1 known silent c.379 p.L127 1.000 superfamily_ssDNA-bd_transcriptional_reg pfam_PC4,superfamily_ssDNA-bd_transcriptional_reg - no_errors SUB1 HGNC ENSG00000113387 222 0 0.00 153 24 13.56 - - - SYT9 0 genome.wustl.edu 37 11 7335088 7335088 + Missense_Mutation SNP C C A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 11 7335088 7335088 C A SNP SYT9 ENST00000524820 human ensembl 69_37n +1 known missense c.817 p.P273T 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SYT9 HGNC ENSG00000170743 183 0 0.00 146 27 15.61 - - - TP53 0 genome.wustl.edu 37 17 7578257 7578257 + Nonsense_Mutation SNP C C A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 17 7578257 7578257 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.592 p.E198* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 156 0 0.00 119 36 23.23 - - - TSC2 0 genome.wustl.edu 37 16 2136343 2136343 + Missense_Mutation SNP C C A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 16 2136343 2136343 C A SNP TSC2 ENST00000569110 human ensembl 69_37n +1 novel missense c.994 p.P332T 0.994 pfam_Rap_GAP,pfscan_Rap_GAP pfam_Rap_GAP,pfscan_Rap_GAP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TSC2 HGNC ENSG00000103197 43 0 0.00 28 9 24.32 - - - TUBBP5 0 genome.wustl.edu 37 9 141069885 141069885 + RNA SNP A A C TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 9 141069885 141069885 A C SNP TUBBP5 ENST00000290377 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 23 0 0.00 19 7 26.92 - - - UBR2 0 genome.wustl.edu 37 6 42629951 42629951 + Missense_Mutation SNP G G A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 6 42629951 42629951 G A SNP UBR2 ENST00000372899 human ensembl 69_37n +1 known missense c.3472 p.D1158N 0.994 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 226 0 0.00 213 33 13.41 - - - USP21 0 genome.wustl.edu 37 1 161134356 161134356 + Frame_Shift_Del DEL T T - TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 1 161134356 161134356 T - DEL USP21 ENST00000289865 human ensembl 69_37n +1 known frame_shift_del c.1338 p.S446fs 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP21 HGNC ENSG00000143258 82 0 0.00 57 17 22.37 - - - WWP2 0 genome.wustl.edu 37 16 69922069 69922069 + Silent SNP A A C TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 16 69922069 69922069 A C SNP WWP2 ENST00000356003 human ensembl 69_37n +1 known silent c.831 p.T277 0.016 NULL pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC ENSG00000198373 44 0 0.00 51 11 17.46 - - - ZNF473 0 genome.wustl.edu 37 19 50548416 50548416 + Missense_Mutation SNP A A T TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c9253ecc-cfac-4cc5-8dab-1e502d34d103 5554cf4e-b4a0-4938-b5d4-852a5bca8de7 19 50548416 50548416 A T SNP ZNF473 ENST00000270617 human ensembl 69_37n +1 known missense c.716 p.H239L 0.000 NULL 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 ZNF473 HGNC ENSG00000142528 72 0 0.00 58 19 24.36 - - -