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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val SCN1A 0 genome.wustl.edu 37 2 166866229 166866229 + Missense_Mutation SNP C C G TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 2 166866229 166866229 C G SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.4002 p.R1334S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 53 0 0.00 52 20 27.78 33 0 0.00 45 21 31.82 KIAA1147 0 genome.wustl.edu 37 7 141385377 141385377 + Missense_Mutation SNP C C G TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 7 141385377 141385377 C G SNP KIAA1147 ENST00000536163 human ensembl 74_37 -1 known missense c.428 p.S143T 1.000 pfam_DUF2347 pfam_DUF2347 - no_errors KIAA1147 HGNC ENSG00000257093 tier1 - - 37 0 0.00 17 14 45.16 42 0 0.00 48 31 39.24 SLC8A3 0 genome.wustl.edu 37 14 70634566 70634566 + Missense_Mutation SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 14 70634566 70634566 C T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.574 p.G192R 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 tier1 - - 14 0 0.00 12 11 47.83 52 0 0.00 42 49 53.85 KC1 0 genome.wustl.edu 37 12 5021427 5021427 + Missense_Mutation SNP C C G TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 12 5021427 5021427 C G SNP KC1 ENST00000382545 human ensembl 74_37 +1 known missense c.883 p.R295G 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KC1 HGNC ENSG00000111262 tier1 - - 11 0 0.00 6 4 40.00 55 0 0.00 41 19 31.67 ENSG00000255193 0 genome.wustl.edu 37 11 23752351 23752351 + R SNP A A G TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 11 23752351 23752351 A G SNP ENSG00000255193 ENST00000534068 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-945A11.1 Clone_based_vega_gene ENSG00000255193 tier1 - - 26 0 0.00 15 10 40.00 19 0 0.00 14 11 44.00 ATP10A 0 genome.wustl.edu 37 15 25924869 25924869 + Silent SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 15 25924869 25924869 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.4119 p.V1373 0.003 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 tier1 - - 32 0 0.00 14 6 30.00 33 0 0.00 36 30 45.45 RB1 0 genome.wustl.edu 37 13 48947563 48947563 + Nonsense_Mutation SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 13 48947563 48947563 C T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.1150 p.Q384* 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 - - 25 0 0.00 17 20 54.05 40 0 0.00 44 30 40.54 SLC4A9 0 genome.wustl.edu 37 5 139741642 139741642 + Missense_Mutation SNP A A C TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 5 139741642 139741642 A C SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known missense c.674 p.E225A 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 tier1 - - 47 0 0.00 51 5 8.93 43 0 0.00 45 5 10.00 CCDC116 0 genome.wustl.edu 37 22 21989038 21989038 + Missense_Mutation SNP C C A TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 22 21989038 21989038 C A SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known missense c.686 p.T229N 0.054 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 tier1 - - 27 0 0.00 18 14 43.75 35 0 0.00 32 20 38.46 CNNM2 0 genome.wustl.edu 37 10 104679747 104679747 + Missense_Mutation SNP G G A TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 10 104679747 104679747 G A SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known missense c.1510 p.D504N 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 tier1 - - 77 0 0.00 22 27 55.10 151 0 0.00 42 46 52.27 ENSG00000218739 0 genome.wustl.edu 37 2 37426890 37426890 + Missense_Mutation SNP G G A TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 2 37426890 37426890 G A SNP ENSG00000218739 ENST00000392061 human ensembl 74_37 +1 novel missense c.43 p.G15R 1.000 NULL NULL - no_errors AC007390.5 Clone_based_vega_gene ENSG00000218739 tier1 - - 66 0 0.00 45 27 37.50 77 0 0.00 103 57 35.62 COL4A1 0 genome.wustl.edu 37 13 110857840 110857840 + Splice_Site SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 13 110857840 110857840 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known splice_site c.903+1 e16+1 0.998 - - - no_errors COL4A1 HGNC ENSG00000187498 tier1 - - 65 0 0.00 51 29 36.25 107 0 0.00 108 68 38.64 CPNE7 0 genome.wustl.edu 37 16 89663123 89663123 + R SNP T T C TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 16 89663123 89663123 T C SNP CPNE7 ENST00000564421 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CPNE7 HGNC ENSG00000178773 tier1 - - 33 0 0.00 37 29 43.94 80 0 0.00 87 23 20.91 CORIN 0 genome.wustl.edu 37 4 47809025 47809025 + Missense_Mutation SNP A A C TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 4 47809025 47809025 A C SNP CORIN ENST00000273857 human ensembl 74_37 -1 known missense c.103 p.S35A 0.982 pirsf_Peptidase_S1A_corin pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 tier1 - - 51 0 0.00 41 24 36.92 55 0 0.00 55 30 35.29 RRP8 0 genome.wustl.edu 37 11 6621898 6621898 + Splice_Site SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 11 6621898 6621898 C T SNP RRP8 ENST00000254605 human ensembl 74_37 -1 known splice_site c.1154+1 e5+1 1.000 - - - no_errors RRP8 HGNC ENSG00000132275 tier1 - - 29 0 0.00 39 4 9.30 57 0 0.00 100 14 12.28 KIAA1731 0 genome.wustl.edu 37 11 93431161 93431161 + Missense_Mutation SNP G G C TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 11 93431161 93431161 G C SNP KIAA1731 ENST00000411936 human ensembl 74_37 +1 known missense c.3083 p.G1028A 0.002 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 tier1 - - 25 0 0.00 29 8 21.05 50 0 0.00 97 50 34.01 ZNF691 0 genome.wustl.edu 37 1 43316717 43316717 + Missense_Mutation SNP G G A TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 1 43316717 43316717 G A SNP ZNF691 ENST00000397044 human ensembl 74_37 +1 known missense c.181 p.G61S 0.011 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF691 HGNC ENSG00000164011 tier1 - - 31 0 0.00 24 19 44.19 95 1 1.04 97 58 37.42 TNC 0 genome.wustl.edu 37 9 117825327 117825327 + Missense_Mutation SNP T T C TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 9 117825327 117825327 T C SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.3902 p.N1301S 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 - - 35 0 0.00 30 30 50.00 91 0 0.00 80 52 39.39 MIR519A2 0 genome.wustl.edu 37 19 54265614 54265614 + R SNP T T C TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 19 54265614 54265614 T C SNP MIR519A2 ENST00000384990 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR519A2 HGNC ENSG00000269842 tier1 - - 114 0 0.00 76 47 38.21 46 0 0.00 56 23 29.11 C12orf45 0 genome.wustl.edu 37 12 105380151 105380151 + Silent SNP C C G TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 12 105380151 105380151 C G SNP C12orf45 ENST00000552951 human ensembl 74_37 +1 known silent c.21 p.P7 0.000 NULL NULL - no_errors C12orf45 HGNC ENSG00000151131 tier1 - - 190 0 0.00 83 54 39.42 47 0 0.00 25 12 32.43 CCDC14 0 genome.wustl.edu 37 3 123650246 123650246 + Missense_Mutation SNP G G T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 3 123650246 123650246 G T SNP CCDC14 ENST00000488653 human ensembl 74_37 -1 known missense c.1698 p.N566K 1.000 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 tier1 - - 39 0 0.00 52 6 10.34 36 0 0.00 45 6 11.76 NOG 0 genome.wustl.edu 37 12 7947686 7947686 + Missense_Mutation SNP G G T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 12 7947686 7947686 G T SNP NOG ENST00000229307 human ensembl 74_37 +1 known missense c.913 p.V305L 0.090 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOG HGNC ENSG00000111704 tier1 - - 76 0 0.00 54 14 20.59 32 0 0.00 35 10 22.22 RYR2 0 genome.wustl.edu 37 1 237947932 237947932 + Missense_Mutation SNP G G A TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 1 237947932 237947932 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.12938 p.R4313H 0.017 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 28 0 0.00 41 13 24.07 65 0 0.00 121 33 21.43 TULP3 0 genome.wustl.edu 37 12 3031436 3031436 + Missense_Mutation SNP G G T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 12 3031436 3031436 G T SNP TULP3 ENST00000448120 human ensembl 74_37 +1 known missense c.262 p.G88C 1.000 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP3 HGNC ENSG00000078246 tier1 - - 62 0 0.00 30 13 30.23 68 0 0.00 88 46 34.33 TP53 0 genome.wustl.edu 37 17 7578555 7578555 + Splice_Site SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 17 7578555 7578555 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.376-1 e4-1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 17 0 0.00 5 14 73.68 73 0 0.00 11 25 69.44 GPR156 0 genome.wustl.edu 37 3 119886364 119886364 + Missense_Mutation SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 3 119886364 119886364 C T SNP GPR156 ENST00000315843 human ensembl 74_37 -1 known missense c.1960 p.V654I 0.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 tier1 - - 40 0 0.00 43 11 20.37 79 0 0.00 70 50 41.67 ERVW-1 0 genome.wustl.edu 37 7 92099781 92099781 + R SNP G G A TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 7 92099781 92099781 G A SNP ERVW-1 ENST00000604270 human ensembl 74_37 -1 known rna NULL NULL 0.220 - - - no_errors ERVW-1 HGNC ENSG00000242950 tier1 - - 24 0 0.00 11 16 59.26 13 0 0.00 15 14 48.28 CTAG2 0 genome.wustl.edu 37 X 153881533 153881533 + Missense_Mutation SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e X 153881533 153881533 C T SNP CTAG2 ENST00000369585 human ensembl 74_37 -1 known missense c.257 p.R86H 0.000 NULL pfam_EKC/KEOPS_Pcc1 - no_errors CTAG2 HGNC ENSG00000126890 tier1 - - 22 0 0.00 21 12 36.36 22 0 0.00 18 13 40.62 WSCD2 0 genome.wustl.edu 37 12 108589816 108589816 + Silent SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 12 108589816 108589816 C T SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known silent c.207 p.D69 0.016 NULL pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 tier1 - - 32 0 0.00 35 11 23.91 29 0 0.00 44 47 51.65 GPR113 0 genome.wustl.edu 37 2 26539786 26539786 + Missense_Mutation SNP T T C TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 2 26539786 26539786 T C SNP GPR113 ENST00000333478 human ensembl 74_37 -1 known missense c.319 p.T107A 0.295 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 tier1 - - 39 0 0.00 24 19 44.19 50 0 0.00 40 27 40.30 C16orf62 0 genome.wustl.edu 37 16 19584522 19584522 + Nonsense_Mutation SNP G G T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 16 19584522 19584522 G T SNP C16orf62 ENST00000438132 human ensembl 74_37 +1 known nonsense c.634 p.E212* 1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 tier1 - - 42 0 0.00 25 23 47.92 79 1 1.23 108 75 40.98 LILRB1 0 genome.wustl.edu 37 19 55144624 55144624 + Silent SNP G G A TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 19 55144624 55144624 G A SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known silent c.1116 p.T372 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 tier1 - - 62 0 0.00 34 24 41.38 82 0 0.00 50 27 35.06 SLC16A9 0 genome.wustl.edu 37 10 61413832 61413832 + Missense_Mutation SNP T T G TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 10 61413832 61413832 T G SNP SLC16A9 ENST00000395347 human ensembl 74_37 -1 known missense c.952 p.I318L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A9 HGNC ENSG00000165449 tier1 - - 27 0 0.00 7 15 68.18 57 0 0.00 18 55 75.34 NLRP9 0 genome.wustl.edu 37 19 56241270 56241270 + Missense_Mutation SNP T T C TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 19 56241270 56241270 T C SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.1921 p.S641G 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 tier1 - - 41 0 0.00 28 5 15.15 59 0 0.00 94 11 10.38 RALGAPB 0 genome.wustl.edu 37 20 37137749 37137749 + Missense_Mutation SNP T T A TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 20 37137749 37137749 T A SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.770 p.F257Y 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 tier1 - - 86 0 0.00 71 20 21.98 35 0 0.00 50 16 24.24 RABGAP1L 0 genome.wustl.edu 37 1 174200309 174200309 + Missense_Mutation SNP C C A TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 1 174200309 174200309 C A SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known missense c.358 p.P120T 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 tier1 - - 21 0 0.00 29 14 32.56 19 0 0.00 62 10 13.89 TM4SF18 0 genome.wustl.edu 37 3 149051132 149051132 + Frame_Shift_Del DEL A A - TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 3 149051132 149051132 A - DEL TM4SF18 ENST00000296059 human ensembl 74_37 -1 known frame_shift_del c.38 p.L13fs 0.992 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF18 HGNC ENSG00000163762 tier1 34 0 0.00 32 23 41.82 64 0 0.00 75 36 32.43 MUC17 0 genome.wustl.edu 37 7 100677255 100677255 + Frame_Shift_Del DEL C C - TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 7 100677255 100677255 C - DEL MUC17 ENST00000306151 human ensembl 74_37 +1 known frame_shift_del c.2558 p.S854fs 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 54 0 0.00 56 34 37.78 16 0 0.00 21 4 16.00 PET112 0 genome.wustl.edu 37 4 152600965 152600965 + Silent SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 4 152600965 152600965 C T SNP PET112 ENST00000263985 human ensembl 74_37 -1 known silent c.1410 p.Q470 1.000 pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tR_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tR_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tR_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 tier1 - - 36 0 0.00 39 6 13.33 71 0 0.00 72 6 7.69 TAAR6 0 genome.wustl.edu 37 6 132891510 132891510 + Missense_Mutation SNP A A T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 6 132891510 132891510 A T SNP TAAR6 ENST00000275198 human ensembl 74_37 +1 known missense c.50 p.N17I 0.004 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR6 HGNC ENSG00000146383 tier1 - - 58 0 0.00 62 7 10.14 93 0 0.00 119 6 4.76 RYR1 0 genome.wustl.edu 37 19 38951109 38951109 + Nonsense_Mutation SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 19 38951109 38951109 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known nonsense c.2455 p.R819* 0.985 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 rs193922774 - 42 0 0.00 28 19 40.43 31 1 3.12 16 20 55.56 ADARB2 0 genome.wustl.edu 37 10 1284348 1284348 + Nonsense_Mutation SNP G G A TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 10 1284348 1284348 G A SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known nonsense c.1207 p.Q403* 0.989 smart_A_deamin pfam_A_deamin,pfam_dsR-bd_dom,smart_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 tier1 - - 67 0 0.00 36 5 12.20 17 0 0.00 6 0 0.00 ENSG00000221279 0 genome.wustl.edu 37 7 110568408 110568413 + R DEL CACACA CACACA - TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 CACACA CACACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 7 110568408 110568413 CACACA - DEL ENSG00000221279 ENST00000408352 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.003:0.009:0.052:0.060:0.063 - - - no_errors AC005161.1 Clone_based_ensembl_gene ENSG00000221279 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000221280 0 genome.wustl.edu 37 12 118604652 118604653 + R INS - - ACAC TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 12 118604652 118604653 - ACAC INS ENSG00000221280 ENST00000408353 human ensembl 74_37 +1 novel rna NULL NULL 0.002:0.000 - - - no_errors AC026366.1 Clone_based_ensembl_gene ENSG00000221280 tier1 10 0 0.00 8 4 33.33 0 0 0.00 0 0 0.00 ENSG00000221307 0 genome.wustl.edu 37 12 8476956 8476956 + R SNP G G A TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 12 8476956 8476956 G A SNP ENSG00000221307 ENST00000408380 human ensembl 74_37 +1 novel rna NULL NULL 0.279 - - - no_errors AC092745.1 Clone_based_ensembl_gene ENSG00000221307 tier1 - - 132 1 0.75 125 16 11.35 0 0 0.00 0 0 0.00 ENSG00000233434 0 genome.wustl.edu 37 9 67925159 67925159 + Silent SNP G G T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 9 67925159 67925159 G T SNP ENSG00000233434 ENST00000543078 human ensembl 74_37 -1 novel silent c.52 p.R18 0.148 NULL NULL - no_errors BX649567.1 Clone_based_ensembl_gene ENSG00000233434 tier1 - - 64 0 0.00 69 6 8.00 0 0 0.00 0 0 0.00 FAM86DP 0 genome.wustl.edu 37 3 75471410 75471410 + R SNP G G A TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 3 75471410 75471410 G A SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM86DP HGNC ENSG00000244026 tier1 - - 98 0 0.00 98 10 9.26 0 0 0.00 0 0 0.00 FANK1 0 genome.wustl.edu 37 10 127585221 127585221 + Nonsense_Mutation SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 10 127585221 127585221 C T SNP FANK1 ENST00000368693 human ensembl 74_37 +1 known nonsense c.10 p.Q4* 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt - no_errors FANK1 HGNC ENSG00000203780 tier1 rs202109621 - 107 0 0.00 92 9 8.91 2 0 0.00 3 0 0.00 LCE2C 0 genome.wustl.edu 37 1 152648741 152648741 + Missense_Mutation SNP C C T TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 1 152648741 152648741 C T SNP LCE2C ENST00000368783 human ensembl 74_37 +1 known missense c.250 p.R84C 0.000 NULL NULL - no_errors LCE2C HGNC ENSG00000187180 tier1 - - 114 0 0.00 115 41 26.28 4 0 0.00 0 4 100.00 FAM129C 0 genome.wustl.edu 37 19 17654235 17654235 + Missense_Mutation SNP T T G TCGA-3B-A9HP-01A-11D-A387-09 TCGA-3B-A9HP-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd65431f-eb47-461e-bf3f-5bcbe231c50d d674737f-2b83-480d-9de2-ee333824475e 19 17654235 17654235 T G SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known missense c.1532 p.V511G 0.999 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 tier1 - - 91 0 0.00 101 9 8.18 25 0 0.00 40 2 4.76