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 ACACB 0 genome.wustl.edu 37 12 109675151 109675151 + Missense_Mutation SNP G G A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 12 109675151 109675151 G A SNP ACACB ENST00000338432 human ensembl 69_37n +1 known missense c.4628 p.R1543H 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 227 1 0.44 129 96 42.48 - - - ACAD10 0 genome.wustl.edu 37 12 112186223 112186223 + Missense_Mutation SNP C C A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 12 112186223 112186223 C A SNP ACAD10 ENST00000455480 human ensembl 69_37n +1 known missense c.2681 p.T894N 0.970 superfamily_AcylCoA_DH/oxidase pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3 - no_errors ACAD10 HGNC ENSG00000111271 162 1 0.61 103 61 36.97 - - - ACOT4 0 genome.wustl.edu 37 14 74058810 74058810 + Silent SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 14 74058810 74058810 C T SNP ACOT4 ENST00000326303 human ensembl 69_37n +1 known silent c.147 p.H49 0.999 pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT4 HGNC ENSG00000177465 13 0 0.00 5 6 54.55 - - - ADAMDEC1 0 genome.wustl.edu 37 8 24257811 24257811 + Silent SNP G G A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 8 24257811 24257811 G A SNP ADAMDEC1 ENST00000256412 human ensembl 69_37n +1 known silent c.1140 p.L380 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 174 0 0.00 109 73 39.89 - - - ADRA1A 0 genome.wustl.edu 37 8 26721870 26721870 + Missense_Mutation SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 8 26721870 26721870 C T SNP ADRA1A ENST00000380586 human ensembl 69_37n -1 known missense c.617 p.R206H 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrene_rcpt_A1Cs,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 63 0 0.00 47 29 38.16 - - - AKD1 0 genome.wustl.edu 37 6 109850252 109850252 + Missense_Mutation SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 6 109850252 109850252 C T SNP AKD1 ENST00000424296 human ensembl 69_37n -1 known missense c.3595 p.A1199T 1.000 smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 349 0 0.00 283 85 23.10 - - - AMBRA1 0 genome.wustl.edu 37 11 46419289 46419289 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 11 46419289 46419289 G T SNP AMBRA1 ENST00000458649 human ensembl 69_37n -1 known missense c.3608 p.T1203N 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 206 0 0.00 119 119 49.79 - - - ARHGAP22 0 genome.wustl.edu 37 10 49701493 49701493 + Missense_Mutation SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 10 49701493 49701493 C T SNP ARHGAP22 ENST00000417247 human ensembl 69_37n -1 known missense c.41 p.R14H 0.000 pfscan_Pleckstrin_homology pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 15 0 0.00 7 5 41.67 - - - ASXL2 0 genome.wustl.edu 37 2 25994378 25994378 + Silent SNP T T C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 2 25994378 25994378 T C SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known silent c.435 p.P145 0.816 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 532 0 0.00 244 254 51.00 - - - ASXL3 0 genome.wustl.edu 37 18 31314340 31314340 + Missense_Mutation SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 18 31314340 31314340 C T SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known missense c.1043 p.P348L 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 172 0 0.00 117 61 34.27 - - - BANP 0 genome.wustl.edu 37 16 88098920 88098920 + Silent SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 16 88098920 88098920 C T SNP BANP ENST00000286122 human ensembl 69_37n +1 known silent c.1326 p.F442 0.029 NULL pfam_BEN_domain - no_errors BANP HGNC ENSG00000172530 86 0 0.00 51 8 13.56 - - - BCAN 0 genome.wustl.edu 37 1 156622540 156622540 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 1 156622540 156622540 G T SNP BCAN ENST00000329117 human ensembl 69_37n +1 known missense c.1798 p.A600S 0.264 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like - no_errors BCAN HGNC ENSG00000132692 53 0 0.00 76 17 18.28 - - - C6orf132 0 genome.wustl.edu 37 6 42074796 42074796 + Missense_Mutation SNP C C G TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 6 42074796 42074796 C G SNP C6orf132 ENST00000341865 human ensembl 69_37n -1 putative missense c.854 p.G285A 0.128 NULL NULL - no_errors C6orf132 HGNC ENSG00000188112 66 0 0.00 51 20 28.17 - - - C6orf52 0 genome.wustl.edu 37 6 10671667 10671667 + RNA SNP G G A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 6 10671667 10671667 G A SNP C6orf52 ENST00000467832 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors C6orf52 HGNC ENSG00000137434 192 0 0.00 111 93 45.59 - - - C7orf10 0 genome.wustl.edu 37 7 40723677 40723677 + Missense_Mutation SNP G G C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 7 40723677 40723677 G C SNP C7orf10 ENST00000309930 human ensembl 69_37n +1 known missense c.1133 p.S378T 0.000 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC ENSG00000175600 353 0 0.00 316 79 20.00 - - - CCP110 0 genome.wustl.edu 37 16 19556209 19556209 + Missense_Mutation SNP G G C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 16 19556209 19556209 G C SNP CCP110 ENST00000381396 human ensembl 69_37n +1 known missense c.2575 p.V859L 1.000 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 288 0 0.00 167 82 32.93 - - - CDH6 0 genome.wustl.edu 37 5 31267600 31267600 + Missense_Mutation SNP T T G TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 5 31267600 31267600 T G SNP CDH6 ENST00000265071 human ensembl 69_37n +1 known missense c.20 p.F7C 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 82 0 0.00 30 28 48.28 - - - CFHR1 0 genome.wustl.edu 37 1 196800996 196800996 + Missense_Mutation SNP A A G TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 1 196800996 196800996 A G SNP CFHR1 ENST00000320493 human ensembl 69_37n +1 known missense c.860 p.K287R 0.003 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR1 HGNC ENSG00000244414 580 0 0.00 306 322 51.27 - - - CLDN23 0 genome.wustl.edu 37 8 8560424 8560424 + Silent SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 8 8560424 8560424 G T SNP CLDN23 ENST00000519106 human ensembl 69_37n +1 known silent c.516 p.L172 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN23 HGNC ENSG00000253958 11 0 0.00 5 7 58.33 - - - CNOT10 0 genome.wustl.edu 37 3 32754743 32754744 + Frame_Shift_Ins INS - - T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 3 32754743 32754744 - T INS CNOT10 ENST00000454516 human ensembl 69_37n +1 known frame_shift_ins c.635_636 p.L214fs 1.000:1.000 NULL pfam_TPR-1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 375 0 0.00 111 333 75.00 - - - CNTN6 0 genome.wustl.edu 37 3 1320096 1320096 + Splice_Site SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 3 1320096 1320096 G T SNP CNTN6 ENST00000350110 human ensembl 69_37n +1 known splice_site c.359-1 e4-1 1.000 - - - no_errors CNTN6 HGNC ENSG00000134115 155 0 0.00 69 55 44.35 - - - COL6A5 0 genome.wustl.edu 37 3 130187808 130187808 + Missense_Mutation SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 3 130187808 130187808 C T SNP COL6A5 ENST00000512836 human ensembl 69_37n +1 putative missense c.1714 p.L572F 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region COL6A5 HGNC ENSG00000172752 285 1 0.35 50 122 70.93 - - - CXorf23 0 genome.wustl.edu 37 X 19971133 19971133 + Missense_Mutation SNP T T C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 X 19971133 19971133 T C SNP CXorf23 ENST00000340625 human ensembl 69_37n -1 known missense c.427 p.T143A 0.999 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CXorf23 HGNC ENSG00000173681 237 0 0.00 176 118 40.14 - - - CYP4F11 0 genome.wustl.edu 37 19 16038292 16038292 + Silent SNP A A T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 19 16038292 16038292 A T SNP CYP4F11 ENST00000248041 human ensembl 69_37n -1 known silent c.345 p.A115 0.613 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 151 0 0.00 89 80 46.78 - - - DKKL1 0 genome.wustl.edu 37 19 49869131 49869131 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 19 49869131 49869131 G T SNP DKKL1 ENST00000221498 human ensembl 69_37n +1 known missense c.406 p.G136C 0.031 NULL NULL - no_errors DKKL1 HGNC ENSG00000104901 206 0 0.00 137 79 36.57 - - - DNAH17 0 genome.wustl.edu 37 17 76423090 76423090 + Missense_Mutation SNP C C A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 17 76423090 76423090 C A SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.12757 p.V4253F 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 126 0 0.00 84 30 26.32 - - - DPCR1 0 genome.wustl.edu 37 6 30919364 30919364 + Silent SNP T T C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 6 30919364 30919364 T C SNP DPCR1 ENST00000462446 human ensembl 69_37n +1 novel silent c.3123 p.P1041 0.001 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 675 0 0.00 632 104 14.09 - - - ENAH 0 genome.wustl.edu 37 1 225742665 225742665 + Missense_Mutation SNP T T C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 1 225742665 225742665 T C SNP ENAH ENST00000366844 human ensembl 69_37n -1 known missense c.292 p.N98D 1.000 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 294 0 0.00 188 147 43.88 - - - FAM193B 0 genome.wustl.edu 37 5 176964948 176964948 + Frame_Shift_Del DEL G G - TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 5 176964948 176964948 G - DEL FAM193B ENST00000443375 human ensembl 69_37n -1 known frame_shift_del c.275 p.S92fs 1.000 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 154 0 0.00 31 58 59.18 - - - FAM207A 0 genome.wustl.edu 37 21 46380034 46380034 + Silent SNP T T C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 21 46380034 46380034 T C SNP FAM207A ENST00000291634 human ensembl 69_37n +1 known silent c.303 p.V101 0.001 NULL NULL - no_errors FAM207A HGNC ENSG00000160256 177 0 0.00 158 45 22.17 - - - FAM210A 0 genome.wustl.edu 37 18 13681832 13681832 + Missense_Mutation SNP C C G TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 18 13681832 13681832 C G SNP FAM210A ENST00000322247 human ensembl 69_37n -1 known missense c.245 p.R82P 0.000 NULL pfam_DUF1279 - no_errors FAM210A HGNC ENSG00000177150 448 0 0.00 298 215 41.91 - - - HEATR7B2 0 genome.wustl.edu 37 5 41048471 41048471 + Missense_Mutation SNP C C G TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 5 41048471 41048471 C G SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known missense c.1639 p.D547H 0.952 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 348 0 0.00 146 128 46.55 - - - ING1 0 genome.wustl.edu 37 13 111371953 111371953 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 13 111371953 111371953 G T SNP ING1 ENST00000375774 human ensembl 69_37n +1 known missense c.943 p.A315S 0.976 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 48 0 0.00 10 33 76.74 - - - INPP5D 0 genome.wustl.edu 37 2 233925287 233925287 + Silent SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 2 233925287 233925287 C T SNP INPP5D ENST00000359570 human ensembl 69_37n +1 known silent c.99 p.S33 0.991 pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,prints_SH2,pfscan_SH2 - no_errors INPP5D HGNC ENSG00000168918 42 0 0.00 33 27 45.00 - - - ITPR2 0 genome.wustl.edu 37 12 26580852 26580852 + Silent SNP T T G TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 12 26580852 26580852 T G SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known silent c.6939 p.A2313 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 198 0 0.00 645 96 12.96 - - - KCNH1 0 genome.wustl.edu 37 1 210857058 210857058 + Silent SNP C C A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 1 210857058 210857058 C A SNP KCNH1 ENST00000271751 human ensembl 69_37n -1 known silent c.2535 p.G845 0.033 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 88 0 0.00 78 15 15.96 - - - KHSRP 0 genome.wustl.edu 37 19 6415313 6415314 + Splice_Site INS - - TG TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 19 6415313 6415314 - TG INS KHSRP ENST00000398148 human ensembl 69_37n -1 known splice_site_ins c.1967-2_1967-1 e19-1 0.989:0.952 - - - no_errors KHSRP HGNC ENSG00000088247 33 0 0.00 33 15 31.25 - - - KIAA1324L 0 genome.wustl.edu 37 7 86522367 86522367 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 7 86522367 86522367 G T SNP KIAA1324L ENST00000450689 human ensembl 69_37n -1 known missense c.2735 p.S912Y 1.000 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324L HGNC ENSG00000164659 160 0 0.00 95 86 47.51 - - - L1CAM 0 genome.wustl.edu 37 X 153130155 153130155 + Silent SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 X 153130155 153130155 G T SNP L1CAM ENST00000543994 human ensembl 69_37n -1 known silent c.3057 p.I1019 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 132 0 0.00 93 34 26.77 - - - LRP2 0 genome.wustl.edu 37 2 170063595 170063595 + Missense_Mutation SNP C C A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 2 170063595 170063595 C A SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.6635 p.R2212I 0.695 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 188 0 0.00 109 60 35.29 - - - MDGA1 0 genome.wustl.edu 37 6 37614094 37614094 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 6 37614094 37614094 G T SNP MDGA1 ENST00000297153 human ensembl 69_37n -1 known missense c.2113 p.Q705K 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA1 HGNC ENSG00000112139 122 0 0.00 99 54 35.06 - - - MEF2B 0 genome.wustl.edu 37 19 19258546 19258546 + Silent SNP G G A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 19 19258546 19258546 G A SNP MEF2B ENST00000162023 human ensembl 69_37n -1 known silent c.354 p.G118 0.321 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2B HGNC ENSG00000213999 83 0 0.00 55 29 26.61 - - - MRPL20 0 genome.wustl.edu 37 1 1337585 1337585 + Missense_Mutation SNP G G A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 1 1337585 1337585 G A SNP MRPL20 ENST00000344843 human ensembl 69_37n -1 known missense c.328 p.P110S 1.000 pfam_Ribosomal_L20,tigrfam_Ribosomal_L20 pfam_Ribosomal_L20,prints_Ribosomal_L20,tigrfam_Ribosomal_L20 - no_errors MRPL20 HGNC ENSG00000242485 109 0 0.00 206 57 21.59 - - - MUC16 0 genome.wustl.edu 37 19 9070668 9070668 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 19 9070668 9070668 G T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.16778 p.T5593N 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 363 0 0.00 212 163 43.35 - - - MYD88 0 genome.wustl.edu 37 3 38180431 38180431 + Silent SNP A A T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 3 38180431 38180431 A T SNP MYD88 ENST00000417037 human ensembl 69_37n +1 known silent c.279 p.G93 0.801 pfam_Death,superfamily_DEATH-like,smart_Death,pirsf_Myelin_different_resp_MyD88,pfscan_Death pfam_TIR_dom,pfam_Death,superfamily_DEATH-like,superfamily_TIR_dom,smart_Death,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 35 0 0.00 14 6 27.27 - - - MYH14 0 genome.wustl.edu 37 19 50713890 50713890 + Nonsense_Mutation SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 19 50713890 50713890 C T SNP MYH14 ENST00000262269 human ensembl 69_37n +1 known nonsense c.268 p.R90* 1.000 pfam_Myosin_N pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 22 0 0.00 10 9 47.37 - - - MYH7B 0 genome.wustl.edu 37 20 33577724 33577724 + Splice_Site SNP T T C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 20 33577724 33577724 T C SNP MYH7B ENST00000262873 human ensembl 69_37n +1 novel splice_site c.1893+2 e18+2 1.000 - - - no_errors MYH7B HGNC ENSG00000078814 85 0 0.00 57 38 40.00 - - - NBAS 0 genome.wustl.edu 37 2 15432702 15432702 + Missense_Mutation SNP T T A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 2 15432702 15432702 T A SNP NBAS ENST00000442506 human ensembl 69_37n -1 novel missense c.2129 p.Q710L 0.000 NULL pfam_Sec39 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NBAS HGNC ENSG00000151779 186 0 0.00 53 472 89.90 - - - NDUFS2 0 genome.wustl.edu 37 1 161179917 161179917 + Missense_Mutation SNP T T G TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 1 161179917 161179917 T G SNP NDUFS2 ENST00000367993 human ensembl 69_37n +1 known missense c.719 p.L240R 0.998 pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD - no_errors NDUFS2 HGNC ENSG00000158864 210 0 0.00 163 133 44.93 - - - NEB 0 genome.wustl.edu 37 2 152507244 152507244 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 2 152507244 152507244 G T SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.7071 p.F2357L 0.042 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 315 1 0.32 171 124 42.03 - - - NR0B2 0 genome.wustl.edu 37 1 27240275 27240275 + Missense_Mutation SNP G G C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 1 27240275 27240275 G C SNP NR0B2 ENST00000254227 human ensembl 69_37n -1 known missense c.157 p.H53D 0.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B2 HGNC ENSG00000131910 14 0 0.00 4 6 60.00 - - - NSUN3 0 genome.wustl.edu 37 3 93845211 93845211 + Missense_Mutation SNP C C G TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 3 93845211 93845211 C G SNP NSUN3 ENST00000314622 human ensembl 69_37n +1 known missense c.900 p.H300Q 0.688 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN3 HGNC ENSG00000178694 161 0 0.00 28 54 65.85 - - - OPRM1 0 genome.wustl.edu 37 6 154412347 154412347 + Missense_Mutation SNP G G C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 6 154412347 154412347 G C SNP OPRM1 ENST00000434900 human ensembl 69_37n +1 known missense c.1183 p.V395L 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Neuropept_W_rcpt,prints_P2_purnocptor pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mu_opioid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 335 0 0.00 391 157 28.65 - - - OR4C15 0 genome.wustl.edu 37 11 55321983 55321983 + Silent SNP G G C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 11 55321983 55321983 G C SNP OR4C15 ENST00000314644 human ensembl 69_37n +1 known silent c.201 p.L67 0.679 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 191 0 0.00 113 85 42.71 - - - OSBPL1A 0 genome.wustl.edu 37 18 21745043 21745043 + Missense_Mutation SNP C C G TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 18 21745043 21745043 C G SNP OSBPL1A ENST00000319481 human ensembl 69_37n -1 known missense c.2736 p.E912D 0.998 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 649 0 0.00 549 122 18.18 - - - PCDHA9 0 genome.wustl.edu 37 5 140230439 140230439 + Missense_Mutation SNP G G A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 5 140230439 140230439 G A SNP PCDHA9 ENST00000532602 human ensembl 69_37n +1 known missense c.2359 p.G787R 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 119 0 0.00 14 48 77.42 - - - PEG3 0 genome.wustl.edu 37 19 57286770 57286770 + Silent SNP T T C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 19 57286770 57286770 T C SNP PEG3 ENST00000221722 human ensembl 69_37n -1 known silent c.870 p.R290 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors PEG3 HGNC ENSG00000198300 300 1 0.33 211 100 32.15 - - - PLXNA2 0 genome.wustl.edu 37 1 208216496 208216496 + Silent SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 1 208216496 208216496 G T SNP PLXNA2 ENST00000367033 human ensembl 69_37n -1 known silent c.3927 p.R1309 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC ENSG00000076356 164 0 0.00 107 65 37.79 - - - POU3F4 0 genome.wustl.edu 37 X 82763506 82763506 + Silent SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 X 82763506 82763506 G T SNP POU3F4 ENST00000373200 human ensembl 69_37n +1 known silent c.174 p.V58 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 46 0 0.00 27 13 32.50 - - - PPEF1 0 genome.wustl.edu 37 X 18822127 18822127 + Missense_Mutation SNP C C A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 X 18822127 18822127 C A SNP PPEF1 ENST00000361511 human ensembl 69_37n +1 known missense c.1183 p.Q395K 0.034 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 447 0 0.00 251 164 39.42 - - - PRKCE 0 genome.wustl.edu 37 2 46234725 46234725 + Silent SNP G G A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 2 46234725 46234725 G A SNP PRKCE ENST00000306156 human ensembl 69_37n +1 known silent c.1188 p.R396 1.000 superfamily_Kinase-like_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 79 0 0.00 46 12 20.69 - - - PSG7 0 genome.wustl.edu 37 19 43433600 43433600 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 19 43433600 43433600 G T SNP PSG7 ENST00000406070 human ensembl 69_37n -1 known missense c.703 p.L235I 0.509 NULL NULL - pseudogene PSG7 HGNC ENSG00000221878 304 0 0.00 168 129 43.29 - - - PTPRO 0 genome.wustl.edu 37 12 15673153 15673153 + Missense_Mutation SNP C C A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 12 15673153 15673153 C A SNP PTPRO ENST00000281171 human ensembl 69_37n +1 known missense c.1798 p.P600T 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 143 0 0.00 21 55 72.37 - - - PUS10 0 genome.wustl.edu 37 2 61175203 61175203 + Missense_Mutation SNP G G C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 2 61175203 61175203 G C SNP PUS10 ENST00000316752 human ensembl 69_37n -1 known missense c.1426 p.L476V 1.000 superfamily_PsdUridine_synth_cat_dom superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC ENSG00000162927 219 1 0.45 143 94 39.66 - - - RNA5SP301 0 genome.wustl.edu 37 10 13769842 13769842 + RNA SNP A A G TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 10 13769842 13769842 A G SNP RNA5SP301 ENST00000362537 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RNA5SP301 HGNC ENSG00000199407 11 0 0.00 3 7 70.00 - - - RNF182 0 genome.wustl.edu 37 6 13977498 13977498 + Missense_Mutation SNP A A C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 6 13977498 13977498 A C SNP RNF182 ENST00000488300 human ensembl 69_37n +1 known missense c.148 p.K50Q 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 242 0 0.00 279 98 25.99 - - - RPS6KA4 0 genome.wustl.edu 37 11 64137029 64137029 + Missense_Mutation SNP G G A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 11 64137029 64137029 G A SNP RPS6KA4 ENST00000334205 human ensembl 69_37n +1 known missense c.1540 p.V514M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom 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 - no_errors RPS6KA4 HGNC ENSG00000162302 13 0 0.00 4 7 63.64 - - - SCN10A 0 genome.wustl.edu 37 3 38768529 38768529 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 3 38768529 38768529 G T SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known missense c.2655 p.F885L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 134 0 0.00 13 70 84.34 - - - SCN4A 0 genome.wustl.edu 37 17 62034711 62034711 + Silent SNP G G A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 17 62034711 62034711 G A SNP SCN4A ENST00000435607 human ensembl 69_37n -1 known silent c.2187 p.C729 0.981 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN4A HGNC ENSG00000007314 184 0 0.00 116 100 46.30 - - - SIRT5 0 genome.wustl.edu 37 6 13599264 13599264 + Silent SNP G G C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 6 13599264 13599264 G C SNP SIRT5 ENST00000379250 human ensembl 69_37n +1 known silent c.618 p.R206 1.000 pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin - no_errors SIRT5 HGNC ENSG00000124523 105 0 0.00 117 46 28.22 - - - SLC27A4 0 genome.wustl.edu 37 9 131105549 131105549 + Missense_Mutation SNP C C A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 9 131105549 131105549 C A SNP SLC27A4 ENST00000372870 human ensembl 69_37n +1 known missense c.220 p.Q74K 0.968 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 163 0 0.00 23 78 77.23 - - - SLC47A1 0 genome.wustl.edu 37 17 19452969 19452969 + Missense_Mutation SNP G G A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 17 19452969 19452969 G A SNP SLC47A1 ENST00000571335 human ensembl 69_37n +1 novel missense c.32 p.R11Q 0.913 NULL pfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 361 0 0.00 57 131 69.68 - - - SND1 0 genome.wustl.edu 37 7 127731927 127731927 + Silent SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 7 127731927 127731927 C T SNP SND1 ENST00000354725 human ensembl 69_37n +1 known silent c.2661 p.S887 0.884 pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC ENSG00000197157 458 0 0.00 250 225 47.17 - - - SOX12 0 genome.wustl.edu 37 20 307342 307342 + Silent SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 20 307342 307342 G T SNP SOX12 ENST00000342665 human ensembl 69_37n +1 known silent c.774 p.L258 0.997 pirsf_SOX-12/11/4a pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX12 HGNC ENSG00000177732 8 0 0.00 5 5 50.00 - - - SVOP 0 genome.wustl.edu 37 12 109372367 109372367 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 12 109372367 109372367 G T SNP SVOP ENST00000299134 human ensembl 69_37n -1 known missense c.73 p.L25M 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SVOP HGNC ENSG00000166111 84 0 0.00 69 57 45.24 - - - SYNE1 0 genome.wustl.edu 37 6 152639373 152639373 + Missense_Mutation SNP C C A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 6 152639373 152639373 C A SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.16415 p.C5472F 0.999 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 327 0 0.00 328 137 29.46 - - - SYNE1 0 genome.wustl.edu 37 6 152716678 152716678 + Missense_Mutation SNP A A T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 6 152716678 152716678 A T SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.7685 p.M2562K 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 462 0 0.00 557 124 18.21 - - - TIPIN 0 genome.wustl.edu 37 15 66644500 66644500 + Missense_Mutation SNP A A G TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 15 66644500 66644500 A G SNP TIPIN ENST00000261881 human ensembl 69_37n -1 known missense c.179 p.V60A 1.000 NULL pfam_Swi3 - no_errors TIPIN HGNC ENSG00000075131 251 0 0.00 46 113 71.07 - - - TLL1 0 genome.wustl.edu 37 4 166913988 166913988 + Nonsense_Mutation SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 4 166913988 166913988 C T SNP TLL1 ENST00000061240 human ensembl 69_37n +1 known nonsense c.313 p.R105* 1.000 pirsf_BMP_1/tolloid-like pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 456 0 0.00 58 183 75.62 - - - TLL2 0 genome.wustl.edu 37 10 98146742 98146742 + Missense_Mutation SNP T T C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 10 98146742 98146742 T C SNP TLL2 ENST00000357947 human ensembl 69_37n -1 known missense c.1820 p.Y607C 0.987 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_EG-like_dom pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC ENSG00000095587 103 0 0.00 19 34 64.15 - - - TM2D2 0 genome.wustl.edu 37 8 38852949 38852951 + In_Frame_Del DEL ATC ATC - TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 8 38852949 38852951 ATC - DEL TM2D2 ENST00000397070 human ensembl 69_37n -1 known in_frame_del c.74_72 p.M24in_frame_del 0.000:0.000:0.000 NULL pfam_TM2 - no_errors TM2D2 HGNC ENSG00000169490 331 0 0.00 232 121 34.28 - - - TMEM132C 0 genome.wustl.edu 37 12 129178526 129178526 + Silent SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 12 129178526 129178526 C T SNP TMEM132C ENST00000435159 human ensembl 69_37n +1 known silent c.1602 p.D534 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 75 0 0.00 48 26 35.14 - - - TNRC6A 0 genome.wustl.edu 37 16 24801817 24801817 + Missense_Mutation SNP C C A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 16 24801817 24801817 C A SNP TNRC6A ENST00000395799 human ensembl 69_37n +1 known missense c.1854 p.N618K 0.995 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 227 1 0.44 120 93 43.66 - - - TP53 0 genome.wustl.edu 37 17 7579364 7579365 + Frame_Shift_Del DEL CC CC - TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 17 7579364 7579365 CC - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.323_322 p.G108fs 0.910:0.925 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 57 0 0.00 8 22 68.75 - - - UGT1A10 0 genome.wustl.edu 37 2 234545725 234545725 + Missense_Mutation SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 2 234545725 234545725 C T SNP UGT1A10 ENST00000344644 human ensembl 69_37n +1 known missense c.557 p.P186L 0.720 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A10 HGNC ENSG00000242515 496 0 0.00 321 231 41.85 - - - UGT2B15 0 genome.wustl.edu 37 4 69536304 69536304 + Silent SNP C C A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 4 69536304 69536304 C A SNP UGT2B15 ENST00000338206 human ensembl 69_37n -1 known silent c.33 p.L11 0.997 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 208 1 0.48 34 81 70.43 - - - UNC93B1 0 genome.wustl.edu 37 11 67766699 67766699 + Missense_Mutation SNP C C A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 11 67766699 67766699 C A SNP UNC93B1 ENST00000227471 human ensembl 69_37n -1 known missense c.631 p.G211C 1.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 50 0 0.00 54 13 19.40 - - - USH2A 0 genome.wustl.edu 37 1 216371845 216371845 + Missense_Mutation SNP T T G TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 1 216371845 216371845 T G SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.3893 p.Q1298P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 260 1 0.38 193 135 41.03 - - - VIPR2 0 genome.wustl.edu 37 7 158902573 158902573 + Missense_Mutation SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 7 158902573 158902573 C T SNP VIPR2 ENST00000418475 human ensembl 69_37n -1 putative missense c.175 p.A59T 0.963 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_VIP_rcpt_2 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_VIP_rcpt,prints_GPCR_2_VIP_rcpt_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VIPR2 HGNC ENSG00000106018 82 0 0.00 53 32 28.32 - - - VNN2 0 genome.wustl.edu 37 6 133078858 133078858 + Missense_Mutation SNP G G C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 6 133078858 133078858 G C SNP VNN2 ENST00000326499 human ensembl 69_37n -1 known missense c.165 p.N55K 1.000 pirsf_Biotinidase_euk,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 304 0 0.00 201 135 40.06 - - - WNK2 0 genome.wustl.edu 37 9 96051807 96051807 + Missense_Mutation SNP G G C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 9 96051807 96051807 G C SNP WNK2 ENST00000297954 human ensembl 69_37n +1 known missense c.4882 p.D1628H 0.088 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK2 HGNC ENSG00000165238 27 0 0.00 3 7 70.00 - - - WNT10B 0 genome.wustl.edu 37 12 49362067 49362067 + Missense_Mutation SNP C C T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 12 49362067 49362067 C T SNP WNT10B ENST00000301061 human ensembl 69_37n -1 known missense c.373 p.A125T 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10B HGNC ENSG00000169884 133 0 0.00 22 56 71.79 - - - ZNF214 0 genome.wustl.edu 37 11 7021508 7021508 + Missense_Mutation SNP G G A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 11 7021508 7021508 G A SNP ZNF214 ENST00000278314 human ensembl 69_37n -1 known missense c.1406 p.P469L 1.000 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 ZNF214 HGNC ENSG00000149050 311 0 0.00 171 119 41.03 - - - ZNF598 0 genome.wustl.edu 37 16 2050140 2050140 + Silent SNP C C A TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff4a0f5a-9f30-4a2b-9915-62f2df5ad155 430fb469-2c87-469e-8d23-0473caeefab3 16 2050140 2050140 C A SNP ZNF598 ENST00000431526 human ensembl 69_37n -1 known silent c.1410 p.P470 0.000 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 12 0 0.00 7 9 56.25 - - -