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 BOLL 0 genome.wustl.edu 37 2 198607837 198607837 + Missense_Mutation SNP G G A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 2 198607837 198607837 G A SNP BOLL ENST00000321801 human ensembl 74_37 -1 known missense c.812 p.A271V 1.000 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC ENSG00000152430 tier1 - - 43 0 0.00 4 8 66.67 83 0 0.00 34 25 42.37 STAG1 0 genome.wustl.edu 37 3 136261014 136261014 + Nonsense_Mutation SNP G G A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 3 136261014 136261014 G A SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known nonsense c.418 p.R140* 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 tier1 - - 59 0 0.00 43 7 14.00 80 0 0.00 49 6 10.91 GRM5-AS1 0 genome.wustl.edu 37 11 88241643 88241643 + R SNP G G A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 11 88241643 88241643 G A SNP GRM5-AS1 ENST00000526448 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRM5-AS1 HGNC ENSG00000255082 tier1 - - 26 0 0.00 15 4 21.05 118 0 0.00 67 26 27.96 BRD8 0 genome.wustl.edu 37 5 137502401 137502401 + Missense_Mutation SNP G G A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 5 137502401 137502401 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.803 p.S268F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 tier1 - - 31 0 0.00 20 19 48.72 134 0 0.00 22 70 75.27 TTN 0 genome.wustl.edu 37 2 179435239 179435239 + Missense_Mutation SNP G G A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 2 179435239 179435239 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.67916 p.P22639L 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 46 0 0.00 21 9 30.00 112 0 0.00 105 13 11.02 AKR1D1 0 genome.wustl.edu 37 7 137776523 137776523 + Missense_Mutation SNP A A G TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 7 137776523 137776523 A G SNP AKR1D1 ENST00000242375 human ensembl 74_37 +1 known missense c.271 p.T91A 0.996 pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC ENSG00000122787 tier1 - - 77 0 0.00 39 31 44.29 120 0 0.00 49 39 44.32 HIPK1 0 genome.wustl.edu 37 1 114506024 114506024 + Missense_Mutation SNP C C A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 1 114506024 114506024 C A SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.2119 p.L707I 1.000 NULL pfam_Prot_kinase_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_dom - no_errors HIPK1 HGNC ENSG00000163349 tier1 - - 100 0 0.00 58 42 42.00 117 0 0.00 68 36 34.62 PREX2 0 genome.wustl.edu 37 8 69030858 69030858 + Missense_Mutation SNP C C A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 8 69030858 69030858 C A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3400 p.H1134N 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 87 0 0.00 68 8 10.53 98 0 0.00 82 18 18.00 SEMA4D 0 genome.wustl.edu 37 9 92006299 92006299 + Silent SNP T T C TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 9 92006299 92006299 T C SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known silent c.654 p.R218 0.012 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 tier1 - - 35 0 0.00 8 8 50.00 115 0 0.00 66 54 45.00 EEF1A1 0 genome.wustl.edu 37 6 74227622 74227622 + Missense_Mutation SNP C C T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 6 74227622 74227622 C T SNP EEF1A1 ENST00000309268 human ensembl 74_37 -1 known missense c.1300 p.A434T 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 tier1 - - 119 0 0.00 85 64 42.67 20 0 0.00 14 2 12.50 COL24A1 0 genome.wustl.edu 37 1 86362070 86362070 + Missense_Mutation SNP A A G TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 1 86362070 86362070 A G SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.2801 p.L934P 0.989 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 40 0 0.00 52 6 10.34 165 0 0.00 71 9 11.11 SLC26A9 0 genome.wustl.edu 37 1 205897159 205897159 + Silent SNP C C T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 1 205897159 205897159 C T SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known silent c.972 p.S324 0.001 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 tier1 rs147218911 - 59 0 0.00 27 24 45.28 86 1 1.15 39 30 42.86 RPRD1B 0 genome.wustl.edu 37 20 36718299 36718299 + R SNP T T A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 20 36718299 36718299 T A SNP RPRD1B ENST00000471511 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPRD1B HGNC ENSG00000101413 tier1 - - 46 0 0.00 28 37 56.92 84 0 0.00 45 41 47.67 ADCY9 0 genome.wustl.edu 37 16 4033317 4033317 + Missense_Mutation SNP G G A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 16 4033317 4033317 G A SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.2435 p.A812V 0.014 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 tier1 - - 45 0 0.00 19 26 57.78 27 0 0.00 26 17 39.53 PBX3 0 genome.wustl.edu 37 9 128678030 128678030 + Missense_Mutation SNP A A G TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 9 128678030 128678030 A G SNP PBX3 ENST00000373489 human ensembl 74_37 +1 known missense c.340 p.M114V 1.000 pfam_PBX pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX3 HGNC ENSG00000167081 tier1 - - 71 0 0.00 38 37 49.33 94 0 0.00 53 34 39.08 ERBB2 0 genome.wustl.edu 37 17 37864783 37864783 + Silent SNP C C T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 17 37864783 37864783 C T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known silent c.435 p.L145 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 - - 58 0 0.00 33 6 15.38 79 0 0.00 67 9 11.84 CBWD1 0 genome.wustl.edu 37 9 121796 121796 + R SNP C C A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 9 121796 121796 C A SNP CBWD1 ENST00000475990 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CBWD1 HGNC ENSG00000172785 tier1 - - 102 1 0.97 32 25 43.86 84 0 0.00 16 14 46.67 MTRF1 0 genome.wustl.edu 37 13 41834665 41834665 + Missense_Mutation SNP C C T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 13 41834665 41834665 C T SNP MTRF1 ENST00000430347 human ensembl 74_37 -1 known missense c.418 p.E140K 0.942 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 tier1 - - 62 0 0.00 45 5 10.00 86 0 0.00 59 7 10.45 MIER2 0 genome.wustl.edu 37 19 306713 306713 + Splice_Site SNP T T A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 19 306713 306713 T A SNP MIER2 ENST00000264819 human ensembl 74_37 -1 known splice_site c.1617-2 e14-2 0.997 - - - no_errors MIER2 HGNC ENSG00000105556 tier1 - - 61 0 0.00 41 43 51.19 47 0 0.00 26 13 33.33 LOC101927498 0 genome.wustl.edu 37 1 83451871 83451871 + R SNP A A T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 1 83451871 83451871 A T SNP LOC101927498 ENST00000421931 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-170N11.1 Clone_based_vega_gene ENSG00000236268 tier1 - - 137 0 0.00 80 29 26.61 99 0 0.00 64 19 22.89 ADAM5 0 genome.wustl.edu 37 8 39239107 39239107 + R SNP T T A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 8 39239107 39239107 T A SNP ADAM5 ENST00000359790 human ensembl 74_37 +1 known rna NULL NULL 0.140 - - - no_errors ADAM5 HGNC ENSG00000196115 tier1 - - 72 0 0.00 44 26 36.62 123 0 0.00 40 45 52.94 ANK2 0 genome.wustl.edu 37 4 114288730 114288730 + Missense_Mutation SNP G G A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 4 114288730 114288730 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.11041 p.V3681I 0.168 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 49 0 0.00 24 15 38.46 69 0 0.00 33 26 44.07 GPR158 0 genome.wustl.edu 37 10 25877983 25877983 + Missense_Mutation SNP C C T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 10 25877983 25877983 C T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.1801 p.R601W 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 95 0 0.00 54 42 43.75 59 0 0.00 24 24 50.00 ZFP30 0 genome.wustl.edu 37 19 38126321 38126321 + Missense_Mutation SNP C C T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 19 38126321 38126321 C T SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known missense c.1121 p.R374K 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP30 HGNC ENSG00000120784 tier1 - - 47 0 0.00 22 20 47.62 50 0 0.00 19 17 47.22 RICTOR 0 genome.wustl.edu 37 5 38982076 38982076 + Missense_Mutation SNP T T G TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 5 38982076 38982076 T G SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.646 p.I216L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 - - 105 0 0.00 79 41 34.17 155 0 0.00 90 46 33.82 GPR132 0 genome.wustl.edu 37 14 105517724 105517724 + Missense_Mutation SNP G G C TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 14 105517724 105517724 G C SNP GPR132 ENST00000329797 human ensembl 74_37 -1 known missense c.750 p.I250M 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR132 HGNC ENSG00000183484 tier1 - - 35 0 0.00 14 12 46.15 93 0 0.00 51 39 43.33 ZNF2 0 genome.wustl.edu 37 2 95847067 95847067 + Missense_Mutation SNP G G A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 2 95847067 95847067 G A SNP ZNF2 ENST00000340539 human ensembl 74_37 +1 known missense c.494 p.R165K 0.427 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 ZNF2 HGNC ENSG00000163067 tier1 - - 122 0 0.00 76 37 32.46 68 0 0.00 31 11 26.19 ZNF862 0 genome.wustl.edu 37 7 149545354 149545354 + Silent SNP C C T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 7 149545354 149545354 C T SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known silent c.772 p.L258 0.997 NULL pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 tier1 - - 78 0 0.00 45 10 18.18 57 0 0.00 29 4 12.12 OTOP2 0 genome.wustl.edu 37 17 72927065 72927065 + Silent SNP C C T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 17 72927065 72927065 C T SNP OTOP2 ENST00000331427 human ensembl 74_37 +1 known silent c.1335 p.D445 0.952 NULL pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 tier1 - - 82 0 0.00 39 12 23.53 62 0 0.00 61 10 14.08 MYF5 0 genome.wustl.edu 37 12 81111289 81111289 + Silent SNP G G A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 12 81111289 81111289 G A SNP MYF5 ENST00000228644 human ensembl 74_37 +1 known silent c.447 p.P149 0.888 pfam_Myf5,superfamily_bHLH_dom pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF5 HGNC ENSG00000111049 tier1 - - 58 0 0.00 30 28 48.28 89 0 0.00 29 28 49.12 EHBP1 0 genome.wustl.edu 37 2 63175630 63175630 + Missense_Mutation SNP A A G TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 2 63175630 63175630 A G SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.1754 p.Y585C 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 tier1 - - 32 0 0.00 15 11 42.31 95 0 0.00 41 38 48.10 PXDC1 0 genome.wustl.edu 37 6 3739162 3739162 + R SNP G G A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 6 3739162 3739162 G A SNP PXDC1 ENST00000485986 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors PXDC1 HGNC ENSG00000168994 tier1 - - 52 0 0.00 26 16 38.10 79 0 0.00 44 35 44.30 ANKRD20A5P 0 genome.wustl.edu 37 18 14184171 14184171 + R SNP A A T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 18 14184171 14184171 A T SNP ANKRD20A5P ENST00000581935 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 tier1 - - 119 0 0.00 53 34 38.64 30 0 0.00 10 9 47.37 GABRP 0 genome.wustl.edu 37 5 170236578 170236578 + Missense_Mutation SNP C C T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 5 170236578 170236578 C T SNP GABRP ENST00000265294 human ensembl 74_37 +1 known missense c.839 p.T280M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRP HGNC ENSG00000094755 tier1 - - 126 0 0.00 58 53 47.75 136 0 0.00 75 43 36.44 FCF1 0 genome.wustl.edu 37 14 75190037 75190037 + Missense_Mutation SNP G G T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 14 75190037 75190037 G T SNP FCF1 ENST00000341162 human ensembl 74_37 +1 known missense c.355 p.V119L 1.000 pfam_Fcf1/Utp23,smart_PIN_dom pfam_Fcf1/Utp23,smart_PIN_dom - no_errors FCF1 HGNC ENSG00000119616 tier1 - - 70 0 0.00 44 13 22.81 136 0 0.00 103 22 17.60 ZHX2 0 genome.wustl.edu 37 8 123964551 123964551 + Frame_Shift_Del DEL C C - TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 8 123964551 123964551 C - DEL ZHX2 ENST00000314393 human ensembl 74_37 +1 known frame_shift_del c.801 p.Y267fs 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 tier1 57 0 0.00 39 26 40.00 115 0 0.00 61 44 41.90 LINC00032 0 genome.wustl.edu 37 9 27247404 27247404 + R SNP T T A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 9 27247404 27247404 T A SNP LINC00032 ENST00000425633 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors LINC00032 HGNC ENSG00000231459 tier1 - - 39 0 0.00 3 22 88.00 59 0 0.00 8 44 84.62 MT-TL1 0 genome.wustl.edu 37 MT 3243 3243 + R SNP A A G TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 MT 3243 3243 A G SNP MT-TL1 ENST00000386347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TL1 HGNC ENSG00000209082 tier1 rs199474657 - 40 0 0.00 0 21 100.00 47 0 0.00 0 26 100.00 PITPNM1 0 genome.wustl.edu 37 11 67259587 67259587 + Missense_Mutation SNP G G A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 11 67259587 67259587 G A SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.3652 p.R1218C 0.933 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 tier1 - - 134 0 0.00 55 53 49.07 18 0 0.00 9 6 40.00 KIF1B 0 genome.wustl.edu 37 1 10403307 10403307 + Missense_Mutation SNP G G A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 1 10403307 10403307 G A SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.3512 p.R1171H 0.999 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 71 0 0.00 65 14 17.72 96 0 0.00 65 7 9.46 MT-RNR2 0 genome.wustl.edu 37 MT 2747 2747 + R SNP T T C TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 MT 2747 2747 T C SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 3456 0 0.00 1123 173 13.34 13 0 0.00 3 0 0.00 MT-RNR2 0 genome.wustl.edu 37 MT 3052 3052 + R SNP A A G TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 MT 3052 3052 A G SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 123 0 0.00 56 7 11.11 31 0 0.00 6 0 0.00 PSG1 0 genome.wustl.edu 37 19 43373052 43373052 + Missense_Mutation SNP C C A TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 19 43373052 43373052 C A SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.844 p.V282F 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 tier1 - - 209 0 0.00 79 71 47.33 15 0 0.00 2 1 33.33 REPIN1 0 genome.wustl.edu 37 7 150069822 150069822 + Missense_Mutation SNP C C G TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 7 150069822 150069822 C G SNP REPIN1 ENST00000489432 human ensembl 74_37 +1 known missense c.1663 p.Q555E 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 tier1 - - 47 0 0.00 45 4 8.16 7 0 0.00 4 0 0.00 USP32P1 0 genome.wustl.edu 37 17 16706960 16706963 + R DEL TAAT TAAT - TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 TAAT TAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 17 16706960 16706963 TAAT - DEL USP32P1 ENST00000341745 human ensembl 74_37 +1 known rna NULL NULL 0.734:0.743:0.823:0.867 - - - no_errors USP32P1 HGNC ENSG00000188933 tier1 29 0 0.00 33 3 8.33 15 0 0.00 4 0 0.00 CGB 0 genome.wustl.edu 37 19 49526360 49526360 + Missense_Mutation SNP C C T TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 19 49526360 49526360 C T SNP CGB ENST00000357383 human ensembl 74_37 -1 known missense c.281 p.R94H 0.993 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB HGNC ENSG00000104827 tier1 - - 41 0 0.00 7 22 75.86 0 0 0.00 0 0 0.00 ENSG00000239179 0 genome.wustl.edu 37 21 9937745 9937745 + R SNP A A C TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 21 9937745 9937745 A C SNP ENSG00000239179 ENST00000458847 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors CR392039.2 Clone_based_ensembl_gene ENSG00000239179 tier1 - - 18 0 0.00 14 4 22.22 0 0 0.00 0 0 0.00 ZNF444 0 genome.wustl.edu 37 19 56671273 56671281 + In_Frame_Del DEL CCCCGGCAG CCCCGGCAG - TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 CCCCGGCAG CCCCGGCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41948940-1e2e-4f0d-bc61-bd6d41e027a0 5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7 19 56671273 56671281 CCCCGGCAG - DEL ZNF444 ENST00000337080 human ensembl 74_37 +1 known in_frame_del c.687_695 p.PGS233in_frame_del 0.998:0.996:0.995:0.994:0.994:0.994:0.994:0.995:0.997 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF444 HGNC ENSG00000167685 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00