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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF SYT6 0 genome.wustl.edu 37 1 114682479 114682479 + Missense_Mutation SNP G G C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 114682479 114682479 G C SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known missense c.270 p.N90K 0.996 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 240 0 0 78 16 17.0213 SETDB1 0 genome.wustl.edu 37 1 150900360 150900360 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 150900360 150900360 G A SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.170 p.R57H 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 281 0 0 135 19 12.3377 SETDB1 0 genome.wustl.edu 37 1 150900361 150900361 + Silent SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 150900361 150900361 C A SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known silent c.171 p.R57 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 283 0 0 133 19 12.5 TCHH 0 genome.wustl.edu 37 1 152080373 152080373 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 152080373 152080373 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.5320 p.R1774C 0.152 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 234 1 0.425532 90 6 6.25 HRNR 0 genome.wustl.edu 37 1 152193741 152193741 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 152193741 152193741 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.364 p.R122W 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 191 0 0 71 34 32.381 LMNA 0 genome.wustl.edu 37 1 156106743 156106743 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 156106743 156106743 G A SNP LMNA ENST00000368300 human ensembl 74_37 +1 known missense c.1412 p.R471H 1.000 pfam_Lamin_tail_dom pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 71 0 0 17 3 15 OR10T2 0 genome.wustl.edu 37 1 158368662 158368662 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 158368662 158368662 C A SNP OR10T2 ENST00000334438 human ensembl 74_37 -1 known missense c.595 p.A199S 0.052 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10T2 HGNC ENSG00000186306 60 0 0 36 24 40 ADCY10 0 genome.wustl.edu 37 1 167847720 167847720 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 167847720 167847720 C A SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.1370 p.G457V 1.000 superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 141 0 0 85 7 7.6087 METTL18 0 genome.wustl.edu 37 1 169762816 169762816 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 169762816 169762816 G A SNP METTL18 ENST00000303469 human ensembl 74_37 -1 known silent c.21 p.F7 0.494 NULL pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL18 HGNC ENSG00000171806 66 0 0 49 5 9.25926 ASTN1 0 genome.wustl.edu 37 1 176926896 176926896 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 176926896 176926896 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.1829 p.R610H 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 89 0 0 31 5 13.8889 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 199 1 0.5 52 32 38.0952 PGBD5 0 genome.wustl.edu 37 1 230472930 230472930 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 230472930 230472930 C T SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known silent c.1089 p.A363 0.006 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 111 0 0 33 13 28.2609 RYR2 0 genome.wustl.edu 37 1 237586436 237586436 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 237586436 237586436 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.887 p.R296H 0.974 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif 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 188 0 0 65 20 23.5294 RYR2 0 genome.wustl.edu 37 1 237947447 237947447 + Silent SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 237947447 237947447 C A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.12453 p.I4151 0.905 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 160 0 0 65 9 12.1622 OR2M3 0 genome.wustl.edu 37 1 248367138 248367138 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 248367138 248367138 T G SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known missense c.769 p.F257V 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 283 0 0 184 26 12.381 CSMD2 0 genome.wustl.edu 37 1 34008458 34008458 + Nonsense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 34008458 34008458 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known nonsense c.9139 p.R3047* 0.939 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 65 0 0 21 18 46.1538 NDUFS5 0 genome.wustl.edu 37 1 39500125 39500125 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 1 39500125 39500125 C G SNP NDUFS5 ENST00000372967 human ensembl 74_37 +1 known missense c.278 p.T93S 0.998 pfam_NADH_UbQ_OxRdtase_FeS-su5 pfam_NADH_UbQ_OxRdtase_FeS-su5,pfam_Cyt_c_biogenesis_Cmc1-like - no_errors NDUFS5 HGNC ENSG00000168653 119 0 0 37 7 15.9091 SORCS1 0 genome.wustl.edu 37 10 108923823 108923823 + Silent SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 10 108923823 108923823 C A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.462 p.R154 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 132 0 0 31 11 26.1905 GPAM 0 genome.wustl.edu 37 10 113921450 113921450 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 10 113921450 113921450 C A SNP GPAM ENST00000348367 human ensembl 74_37 -1 known missense c.1469 p.C490F 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 64 0 0 17 6 26.087 GDF2 0 genome.wustl.edu 37 10 48413661 48413661 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 10 48413661 48413661 C T SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.1207 p.V403I 0.987 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 45 0 0 28 11 28.2051 MAPK8 0 genome.wustl.edu 37 10 49635141 49635141 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 10 49635141 49635141 G A SNP MAPK8 ENST00000360332 human ensembl 74_37 +1 known missense c.1015 p.D339N 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK - no_errors MAPK8 HGNC ENSG00000107643 53 0 0 28 8 22.2222 CALML3 0 genome.wustl.edu 37 10 5567124 5567124 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 10 5567124 5567124 G A SNP CALML3 ENST00000315238 human ensembl 74_37 +1 known missense c.76 p.G26S 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALML3 HGNC ENSG00000178363 65 0 0 16 5 23.8095 C10orf54 0 genome.wustl.edu 37 10 73521515 73521515 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 10 73521515 73521515 G A SNP C10orf54 ENST00000394957 human ensembl 74_37 -1 known silent c.351 p.H117 0.092 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors C10orf54 HGNC ENSG00000107738 68 0 0 20 13 39.3939 C10orf11 0 genome.wustl.edu 37 10 77795865 77795865 + Silent SNP G G C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 10 77795865 77795865 G C SNP C10orf11 ENST00000372499 human ensembl 74_37 +1 known silent c.147 p.L49 1.000 NULL NULL - no_errors C10orf11 HGNC ENSG00000148655 86 0 0 57 4 6.55738 ZCCHC24 0 genome.wustl.edu 37 10 81146112 81146112 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 10 81146112 81146112 G A SNP ZCCHC24 ENST00000372336 human ensembl 74_37 -1 known missense c.715 p.R239C 1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC24 HGNC ENSG00000165424 28 0 0 15 11 42.3077 NRG3 0 genome.wustl.edu 37 10 83635660 83635660 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 10 83635660 83635660 G A SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known silent c.564 p.A188 0.965 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 117 0 0 49 13 20.9677 NUTM2D 0 genome.wustl.edu 37 10 89118032 89118032 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 10 89118032 89118032 G A SNP NUTM2D ENST00000381697 human ensembl 74_37 +1 known missense c.10 p.E4K 0.014 NULL NULL - no_errors NUTM2D HGNC ENSG00000214562 292 0 0 94 11 10.4762 MMP7 0 genome.wustl.edu 37 11 102395690 102395690 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 102395690 102395690 C T SNP MMP7 ENST00000260227 human ensembl 74_37 -1 known missense c.590 p.R197H 0.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A - no_errors MMP7 HGNC ENSG00000137673 84 0 0 38 12 24 BCO2 0 genome.wustl.edu 37 11 112070509 112070509 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 112070509 112070509 C T SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known missense c.824 p.A275V 0.020 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 193 0 0 57 25 30.4878 BCO2 0 genome.wustl.edu 37 11 112084451 112084451 + Missense_Mutation SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 112084451 112084451 A G SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known missense c.1199 p.H400R 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 347 0 0 127 25 16.4474 C11orf63 0 genome.wustl.edu 37 11 122805454 122805454 + Silent SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 122805454 122805454 C G SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known silent c.1305 p.L435 0.077 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 187 0 0 78 5 6.0241 ROBO4 0 genome.wustl.edu 37 11 124755087 124755087 + Missense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 124755087 124755087 G T SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known missense c.2851 p.L951M 0.951 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_dom - no_errors ROBO4 HGNC ENSG00000154133 157 0 0 46 5 9.80392 USH1C 0 genome.wustl.edu 37 11 17542436 17542436 + Silent SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 17542436 17542436 T G SNP USH1C ENST00000005226 human ensembl 74_37 -1 known silent c.1191 p.V397 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 595 1 0.167785 225 55 19.6429 BBOX1 0 genome.wustl.edu 37 11 27148884 27148884 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 27148884 27148884 C G SNP BBOX1 ENST00000263182 human ensembl 74_37 +1 known missense c.1048 p.R350G 0.000 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 67 0 0 36 5 12.1951 OR4C13 0 genome.wustl.edu 37 11 49974634 49974634 + Silent SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 49974634 49974634 G T SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known silent c.660 p.L220 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 151 0 0 112 13 10.4 SSRP1 0 genome.wustl.edu 37 11 57099148 57099148 + Missense_Mutation SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 57099148 57099148 A G SNP SSRP1 ENST00000278412 human ensembl 74_37 -1 known missense c.1217 p.I406T 0.999 pfam_SSRP1_dom,pfam_DUF1747,prints_SSrcognition pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 85 0 0 42 4 8.69565 OR5B12 0 genome.wustl.edu 37 11 58206946 58206946 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 58206946 58206946 G A SNP OR5B12 ENST00000302572 human ensembl 74_37 -1 known missense c.679 p.R227C 0.297 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 88 0 0 40 4 9.09091 GPR137 0 genome.wustl.edu 37 11 64056629 64056629 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 64056629 64056629 C A SNP GPR137 ENST00000313074 human ensembl 74_37 +1 known missense c.1046 p.A349E 0.022 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 145 0 0 41 6 12.766 VPS51 0 genome.wustl.edu 37 11 64876186 64876186 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 64876186 64876186 C T SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.1243 p.R415W 0.743 NULL pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 45 0 0 6 3 33.3333 INTS4 0 genome.wustl.edu 37 11 77667074 77667074 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 77667074 77667074 G A SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known missense c.832 p.R278C 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 58 0 0 29 3 9.375 TYR 0 genome.wustl.edu 37 11 88961040 88961040 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 88961040 88961040 G A SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.1086 p.M362I 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 114 0 0 57 7 10.9375 STAB2 0 genome.wustl.edu 37 12 104083726 104083726 + Missense_Mutation SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 12 104083726 104083726 T C SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.3148 p.W1050R 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 161 0 0 87 5 5.43478 KLRAP1 0 genome.wustl.edu 37 12 10748314 10748314 + RNA SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 12 10748314 10748314 C T SNP KLRAP1 ENST00000535939 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KLRAP1 HGNC ENSG00000256667 64 0 0 27 3 10 PLA2G1B 0 genome.wustl.edu 37 12 120763699 120763699 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 12 120763699 120763699 C A SNP PLA2G1B ENST00000308366 human ensembl 74_37 -1 known missense c.159 p.L53F 0.998 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G1B HGNC ENSG00000170890 307 1 0.324675 83 30 26.5487 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 128 1 0.775194 14 30 68.1818 IGFBP6 0 genome.wustl.edu 37 12 53495871 53495871 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 12 53495871 53495871 G A SNP IGFBP6 ENST00000301464 human ensembl 74_37 +1 known missense c.643 p.V215M 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-6 pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-6 - no_errors IGFBP6 HGNC ENSG00000167779 111 0 0 28 5 15.1515 NTF3 0 genome.wustl.edu 37 12 5603608 5603608 + Silent SNP G G C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 12 5603608 5603608 G C SNP NTF3 ENST00000423158 human ensembl 74_37 +1 known silent c.267 p.G89 0.175 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 - no_errors NTF3 HGNC ENSG00000185652 140 0 0 47 19 28.7879 CAPS2 0 genome.wustl.edu 37 12 75693618 75693618 + Nonsense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 12 75693618 75693618 G A SNP CAPS2 ENST00000409799 human ensembl 74_37 -1 putative nonsense c.760 p.R254* 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS2 HGNC ENSG00000180881 29 0 0 22 3 12 NAV3 0 genome.wustl.edu 37 12 78401201 78401201 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 12 78401201 78401201 C T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.1883 p.A628V 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 186 0 0 63 21 25 NAV3 0 genome.wustl.edu 37 12 78513089 78513089 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 12 78513089 78513089 C A SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.3113 p.P1038H 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 230 0 0 109 19 14.8438 OTOGL 0 genome.wustl.edu 37 12 80623065 80623065 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 12 80623065 80623065 C T SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.491 p.S164L 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 170 0 0 56 7 11.1111 SGCG 0 genome.wustl.edu 37 13 23777913 23777913 + Missense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 13 23777913 23777913 G T SNP SGCG ENST00000218867 human ensembl 74_37 +1 known missense c.80 p.G27V 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 65 0 0 34 5 12.8205 COMMD6 0 genome.wustl.edu 37 13 76111694 76111694 + RNA SNP G G C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 13 76111694 76111694 G C SNP COMMD6 ENST00000471682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 31 0 0 5 10 66.6667 EDNRB 0 genome.wustl.edu 37 13 78477310 78477310 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 13 78477310 78477310 T G SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.782 p.Q261P 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 162 0 0 69 31 31 DNAJC3 0 genome.wustl.edu 37 13 96416105 96416105 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 13 96416105 96416105 G A SNP DNAJC3 ENST00000602402 human ensembl 74_37 +1 known missense c.973 p.A325T 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC3 HGNC ENSG00000102580 205 0 0 97 35 26.5152 IPO5 0 genome.wustl.edu 37 13 98652834 98652834 + Missense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 13 98652834 98652834 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1097 p.C366F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 132 0 0 31 29 48.3333 NUDT14 0 genome.wustl.edu 37 14 105643099 105643099 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 14 105643099 105643099 G A SNP NUDT14 ENST00000392568 human ensembl 74_37 -1 known missense c.200 p.A67V 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase - no_errors NUDT14 HGNC ENSG00000183828 141 0 0 34 11 24.4444 EFS 0 genome.wustl.edu 37 14 23826637 23826637 + Missense_Mutation SNP G G C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 14 23826637 23826637 G C SNP EFS ENST00000216733 human ensembl 74_37 -1 known missense c.1484 p.A495G 0.967 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 76 0 0 23 7 23.3333 SNORD115-18 0 genome.wustl.edu 37 15 25448397 25448397 + RNA SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 15 25448397 25448397 T G SNP SNORD115-18 ENST00000363293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD115-18 HGNC ENSG00000200163 514 0 0 178 27 13.1707 THBS1 0 genome.wustl.edu 37 15 39879632 39879632 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 15 39879632 39879632 G A SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.1205 p.R402H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 63 0 0 18 7 28 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 102 0 0 30 19 38.7755 MIR1272 0 genome.wustl.edu 37 15 65054696 65054696 + RNA SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 15 65054696 65054696 G A SNP MIR1272 ENST00000408106 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR1272 HGNC ENSG00000221033 195 0 0 50 8 13.7931 PIF1 0 genome.wustl.edu 37 15 65108504 65108504 + Missense_Mutation SNP A A T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 15 65108504 65108504 A T SNP PIF1 ENST00000268043 human ensembl 74_37 -1 known missense c.1919 p.I640N 0.384 NULL pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase - no_errors PIF1 HGNC ENSG00000140451 62 0 0 21 4 16 ENSG00000261244 0 genome.wustl.edu 37 15 78208880 78208880 + RNA SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 15 78208880 78208880 G A SNP ENSG00000261244 ENST00000565869 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-114H24.7 Clone_based_vega_gene ENSG00000261244 171 0 0 62 4 6.06061 ACAN 0 genome.wustl.edu 37 15 89401508 89401508 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 15 89401508 89401508 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.5692 p.P1898S 0.985 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 118 0 0 20 16 44.4444 ENSG00000270017 0 genome.wustl.edu 37 15 95398829 95398829 + RNA SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 15 95398829 95398829 A G SNP ENSG00000270017 ENST00000602330 human ensembl 74_37 -1 known rna NULL NULL 0.537 - - - no_errors CTD-2576F9.2 Clone_based_vega_gene ENSG00000270017 50 0 0 13 4 23.5294 CACNA1H 0 genome.wustl.edu 37 16 1250559 1250559 + Silent SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 16 1250559 1250559 T C SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known silent c.1107 p.I369 0.153 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 94 0 0 28 3 9.67742 COQ7 0 genome.wustl.edu 37 16 19083427 19083427 + Missense_Mutation SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 16 19083427 19083427 A G SNP COQ7 ENST00000321998 human ensembl 74_37 +1 known missense c.251 p.Q84R 1.000 pfam_Ubq_synth_Coq7,superfamily_Ferritin-like_SF pfam_Ubq_synth_Coq7,superfamily_Ferritin-like_SF - no_errors COQ7 HGNC ENSG00000167186 171 0 0 54 9 14.2857 APOBR 0 genome.wustl.edu 37 16 28507644 28507644 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 16 28507644 28507644 C G SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.1282 p.P428A 0.040 NULL NULL - no_errors APOBR HGNC ENSG00000184730 85 0 0 26 3 10.3448 SLC12A3 0 genome.wustl.edu 37 16 56936319 56936319 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 16 56936319 56936319 C T SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known missense c.2782 p.R928C 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 170 0 0 22 15 40.5405 HYDIN 0 genome.wustl.edu 37 16 70928422 70928422 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 16 70928422 70928422 C A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.9178 p.V3060F 0.002 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 48 0 0 19 3 13.6364 CLEC18B 0 genome.wustl.edu 37 16 74452141 74452141 + Missense_Mutation SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 16 74452141 74452141 A G SNP CLEC18B ENST00000339953 human ensembl 74_37 -1 known missense c.272 p.I91T 0.002 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18B HGNC ENSG00000140839 11 0 0 2 2 50 JPH3 0 genome.wustl.edu 37 16 87678214 87678214 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 16 87678214 87678214 C T SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known missense c.733 p.R245C 1.000 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 214 0 0 34 13 27.6596 MYH1 0 genome.wustl.edu 37 17 10399670 10399670 + Missense_Mutation SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 10399670 10399670 A G SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.4853 p.L1618P 0.996 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 240 0 0 104 7 6.30631 MYH3 0 genome.wustl.edu 37 17 10545981 10545981 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 10545981 10545981 G A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.1641 p.T547 0.996 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 267 0 0 72 32 30.7692 DUSP14 0 genome.wustl.edu 37 17 35872423 35872423 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 35872423 35872423 C T SNP DUSP14 ENST00000394386 human ensembl 74_37 +1 known missense c.49 p.R17W 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP - no_errors DUSP14 HGNC ENSG00000161326 64 0 0 23 6 20.6897 GPR179 0 genome.wustl.edu 37 17 36495312 36495312 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 36495312 36495312 G A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known silent c.891 p.L297 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 108 0 0 26 8 23.5294 PLCD3 0 genome.wustl.edu 37 17 43192475 43192475 + Silent SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 43192475 43192475 G T SNP PLCD3 ENST00000322765 human ensembl 74_37 -1 known silent c.1695 p.L565 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 20 0 0 3 4 57.1429 ENSG00000262823 0 genome.wustl.edu 37 17 4389628 4389628 + RNA SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 4389628 4389628 C T SNP ENSG00000262823 ENST00000576086 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors RP13-580F15.2 Clone_based_vega_gene ENSG00000262823 67 0 0 17 8 32 SCRN2 0 genome.wustl.edu 37 17 45916181 45916181 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 45916181 45916181 G A SNP SCRN2 ENST00000290216 human ensembl 74_37 -1 known missense c.748 p.R250W 0.715 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 236 1 0.421941 68 9 11.6883 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 74 0 0 7 7 50 CSHL1 0 genome.wustl.edu 37 17 61987405 61987405 + Silent SNP A A T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 61987405 61987405 A T SNP CSHL1 ENST00000561003 human ensembl 74_37 -1 novel silent c.339 p.P113 0.000 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core - no_errors CSHL1 HGNC ENSG00000204414 246 0 0 86 5 5.49451 HELZ 0 genome.wustl.edu 37 17 65147164 65147164 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 65147164 65147164 G A SNP HELZ ENST00000358691 human ensembl 74_37 -1 known missense c.2354 p.P785L 1.000 superfamily_P-loop_NTPase pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 173 0 0 63 12 16 NUP85 0 genome.wustl.edu 37 17 73227457 73227457 + Missense_Mutation SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 73227457 73227457 T C SNP NUP85 ENST00000245544 human ensembl 74_37 +1 known missense c.1117 p.F373L 1.000 pfam_Nucleoporin_Nup85 pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 368 0 0 42 49 53.8462 UNC13D 0 genome.wustl.edu 37 17 73838569 73838569 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 73838569 73838569 G A SNP UNC13D ENST00000412096 human ensembl 74_37 -1 known missense c.514 p.R172C 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors UNC13D HGNC ENSG00000092929 142 1 0.699301 44 9 16.9811 TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.637 p.R213* 0.893 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 112 0 0 19 6 24 CYTH1 0 genome.wustl.edu 37 17 76677070 76677070 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 76677070 76677070 C T SNP CYTH1 ENST00000361101 human ensembl 74_37 -1 known missense c.946 p.E316K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH1 HGNC ENSG00000108669 328 0 0 63 48 43.2432 CSNK1D 0 genome.wustl.edu 37 17 80209374 80209374 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 80209374 80209374 G A SNP CSNK1D ENST00000314028 human ensembl 74_37 -1 known missense c.766 p.R256C 1.000 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 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 CSNK1D HGNC ENSG00000141551 63 0 0 13 9 40.9091 ZNF750 0 genome.wustl.edu 37 17 80789023 80789023 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 80789023 80789023 C T SNP ZNF750 ENST00000269394 human ensembl 74_37 -1 known silent c.1308 p.K436 0.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 150 0 0 43 25 36.7647 MYH10 0 genome.wustl.edu 37 17 8526399 8526399 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 17 8526399 8526399 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.166 p.D56N 1.000 pfam_Myosin_N,superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 489 1 0.204082 175 24 12.0603 POTEC 0 genome.wustl.edu 37 18 14542980 14542980 + Missense_Mutation SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 18 14542980 14542980 T C SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.166 p.M56V 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 918 1 0.108814 345 26 7.00809 LAMA3 0 genome.wustl.edu 37 18 21422634 21422634 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 18 21422634 21422634 G A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.3523 p.E1175K 0.032 NULL pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 141 0 0 48 29 37.6623 TCEB3B 0 genome.wustl.edu 37 18 44561290 44561290 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 18 44561290 44561290 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.346 p.A116T 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 273 0 0 63 20 24.0964 ENSG00000267462 0 genome.wustl.edu 37 18 57677795 57677795 + RNA SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 18 57677795 57677795 G A SNP ENSG00000267462 ENST00000585691 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors RP11-866E20.3 Clone_based_vega_gene ENSG00000267462 25 0 0 5 4 44.4444 NWD1 0 genome.wustl.edu 37 19 16860087 16860087 + Missense_Mutation SNP G G C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 19 16860087 16860087 G C SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.634 p.A212P 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 248 0 0 46 7 13.2075 PRX 0 genome.wustl.edu 37 19 40900469 40900469 + Missense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 19 40900469 40900469 G T SNP PRX ENST00000324001 human ensembl 74_37 -1 known missense c.3790 p.Q1264K 0.367 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 34 0 0 7 9 56.25 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 255 1 0.390625 73 19 20.6522 ZNF284 0 genome.wustl.edu 37 19 44590963 44590963 + Missense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 19 44590963 44590963 G T SNP ZNF284 ENST00000421176 human ensembl 74_37 +1 known missense c.1332 p.L444F 0.000 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 ZNF284 HGNC ENSG00000186026 207 0 0 72 45 38.4615 ZNF613 0 genome.wustl.edu 37 19 52448840 52448840 + Silent SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 19 52448840 52448840 T G SNP ZNF613 ENST00000293471 human ensembl 74_37 +1 known silent c.1704 p.S568 0.002 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 ZNF613 HGNC ENSG00000176024 75 0 0 45 4 8.16327 LILRA5 0 genome.wustl.edu 37 19 54818722 54818722 + Missense_Mutation SNP G G C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 19 54818722 54818722 G C SNP LILRA5 ENST00000301219 human ensembl 74_37 -1 known missense c.876 p.S292R 0.000 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 168 0 0 77 7 8.33333 TTYH1 0 genome.wustl.edu 37 19 54930476 54930476 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 19 54930476 54930476 G A SNP TTYH1 ENST00000376531 human ensembl 74_37 +1 known missense c.301 p.G101S 0.996 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 62 0 0 11 15 57.6923 SBK2 0 genome.wustl.edu 37 19 56041244 56041244 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 19 56041244 56041244 G A SNP SBK2 ENST00000344158 human ensembl 74_37 -1 known silent c.903 p.D301 0.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SBK2 HGNC ENSG00000187550 34 0 0 9 9 50 NLRP9 0 genome.wustl.edu 37 19 56244335 56244335 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 19 56244335 56244335 G A SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.862 p.R288W 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 138 0 0 78 5 6.0241 ZNF446 0 genome.wustl.edu 37 19 58989053 58989053 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 19 58989053 58989053 C G SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known missense c.392 p.T131R 0.060 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 151 0 0 32 30 48.3871 ACTL9 0 genome.wustl.edu 37 19 8808509 8808509 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 19 8808509 8808509 C T SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known silent c.543 p.S181 0.020 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 158 0 0 48 10 17.2414 MUC16 0 genome.wustl.edu 37 19 9015690 9015690 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 19 9015690 9015690 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.38133 p.K12711 0.000 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 142 0 0 33 17 34 NTSR2 0 genome.wustl.edu 37 2 11800223 11800223 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 11800223 11800223 G A SNP NTSR2 ENST00000306928 human ensembl 74_37 -1 known missense c.935 p.P312L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn - no_errors NTSR2 HGNC ENSG00000169006 129 0 0 29 7 19.4444 GYPC 0 genome.wustl.edu 37 2 127413868 127413868 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 127413868 127413868 C T SNP GYPC ENST00000259254 human ensembl 74_37 +1 known missense c.29 p.T10M 0.000 NULL smart_Neurexin-like - no_errors GYPC HGNC ENSG00000136732 29 0 0 5 3 37.5 LRP1B 0 genome.wustl.edu 37 2 141243057 141243057 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 141243057 141243057 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9280 p.V3094I 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 47 0 0 25 12 32.4324 GALNT13 0 genome.wustl.edu 37 2 155115621 155115621 + Nonsense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 155115621 155115621 G A SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known nonsense c.945 p.W315* 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 179 0 0 47 23 32.8571 SCN1A 0 genome.wustl.edu 37 2 166848014 166848014 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 166848014 166848014 C T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.5771 p.R1924H 1.000 NULL 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 125 0 0 56 25 30.8642 TTN 0 genome.wustl.edu 37 2 179473038 179473038 + Silent SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 179473038 179473038 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.44868 p.L14956 0.987 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 29 0 0 25 5 16.6667 TTN 0 genome.wustl.edu 37 2 179482698 179482698 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 179482698 179482698 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39676 p.V13226I 0.705 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 177 0 0 114 10 8.06452 TTN 0 genome.wustl.edu 37 2 179634421 179634421 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 179634421 179634421 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.8887 p.T2963P 1.000 superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom 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 114 0 0 31 58 65.1685 TTN 0 genome.wustl.edu 37 2 179640548 179640548 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 179640548 179640548 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.6043 p.A2015T 1.000 superfamily_RNaseH-like_dom 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 208 0 0 86 48 35.8209 NCKAP1 0 genome.wustl.edu 37 2 183826989 183826989 + Missense_Mutation SNP A A C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 183826989 183826989 A C SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known missense c.1797 p.D599E 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 37 0 0 36 3 7.69231 ERBB4 0 genome.wustl.edu 37 2 212251665 212251665 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 212251665 212251665 G A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3394 p.P1132S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt 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 ERBB4 HGNC ENSG00000178568 130 0 0 52 12 18.75 SMARCAL1 0 genome.wustl.edu 37 2 217297484 217297484 + Missense_Mutation SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 217297484 217297484 A G SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known missense c.1378 p.M460V 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 107 0 0 43 8 15.6863 PTPRN 0 genome.wustl.edu 37 2 220162661 220162661 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 220162661 220162661 G A SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known silent c.1833 p.R611 0.992 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 48 0 0 14 11 44 ARMC9 0 genome.wustl.edu 37 2 232141438 232141438 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 232141438 232141438 C T SNP ARMC9 ENST00000349938 human ensembl 74_37 +1 known missense c.1424 p.T475M 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 242 0 0 59 9 13.2353 UGT1A10 0 genome.wustl.edu 37 2 234545590 234545590 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 234545590 234545590 C A SNP UGT1A10 ENST00000344644 human ensembl 74_37 +1 known missense c.422 p.S141Y 0.158 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A10 HGNC ENSG00000242515 196 0 0 73 44 37.6068 KLHL30 0 genome.wustl.edu 37 2 239049766 239049766 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 239049766 239049766 G A SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known missense c.371 p.R124H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 48 0 0 37 15 28.8462 SNX17 0 genome.wustl.edu 37 2 27598553 27598553 + Nonsense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 27598553 27598553 C T SNP SNX17 ENST00000233575 human ensembl 74_37 +1 known nonsense c.955 p.R319* 0.998 NULL pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 113 0 0 56 7 11.1111 LTBP1 0 genome.wustl.edu 37 2 33589410 33589410 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 33589410 33589410 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known silent c.4530 p.P1510 0.792 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 50 0 0 33 6 15.3846 PEX13 0 genome.wustl.edu 37 2 61259050 61259050 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 61259050 61259050 C T SNP PEX13 ENST00000295030 human ensembl 74_37 +1 known missense c.589 p.R197W 0.967 pfam_Peroxin-13_N pfam_Peroxin-13_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PEX13 HGNC ENSG00000162928 127 0 0 55 17 23.6111 ACTR2 0 genome.wustl.edu 37 2 65492328 65492328 + Missense_Mutation SNP A A C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 65492328 65492328 A C SNP ACTR2 ENST00000542850 human ensembl 74_37 +1 known missense c.868 p.T290P 0.000 smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR2 HGNC ENSG00000138071 120 0 0 49 15 23.4375 CAPG 0 genome.wustl.edu 37 2 85622747 85622747 + Silent SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 85622747 85622747 G T SNP CAPG ENST00000263867 human ensembl 74_37 -1 known silent c.895 p.R299 0.058 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors CAPG HGNC ENSG00000042493 39 0 0 9 2 18.1818 NEURL2 0 genome.wustl.edu 37 20 44519149 44519149 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 20 44519149 44519149 C T SNP NEURL2 ENST00000372518 human ensembl 74_37 -1 known missense c.482 p.G161D 1.000 pfscan_Neu_Z pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C - no_errors NEURL2 HGNC ENSG00000124257 176 0 0 61 14 18.6667 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 150 1 0.662252 52 28 35 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862918 10862918 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 21 10862918 10862918 C T SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known missense c.214 p.P72S 0.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 572 0 0 278 18 6.08108 OLIG2 0 genome.wustl.edu 37 21 34399314 34399314 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 21 34399314 34399314 G A SNP OLIG2 ENST00000333337 human ensembl 74_37 +1 known silent c.144 p.P48 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG2 HGNC ENSG00000205927 38 0 0 13 6 31.5789 LCA5L 0 genome.wustl.edu 37 21 40778531 40778531 + Silent SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 21 40778531 40778531 T C SNP LCA5L ENST00000288350 human ensembl 74_37 -1 known silent c.1290 p.S430 0.947 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 138 0 0 38 3 7.31707 COL18A1 0 genome.wustl.edu 37 21 46876083 46876083 + Silent SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 21 46876083 46876083 A G SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known silent c.639 p.P213 0.000 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 93 0 0 34 3 8.10811 BMS1P20 0 genome.wustl.edu 37 22 22664639 22664639 + RNA SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 22 22664639 22664639 G A SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 63 0 0 28 3 9.67742 SMARCB1 0 genome.wustl.edu 37 22 24135750 24135750 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 22 24135750 24135750 C T SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known silent c.237 p.H79 0.746 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 322 1 0.309598 106 9 7.82609 ELFN2 0 genome.wustl.edu 37 22 37770469 37770469 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 22 37770469 37770469 C T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.1106 p.R369H 1.000 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 135 0 0 52 6 10.3448 LOC100506679 0 genome.wustl.edu 37 22 43435997 43435997 + RNA SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 22 43435997 43435997 A G SNP LOC100506679 ENST00000443063 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AL022476.2 Clone_based_vega_gene ENSG00000230319 85 0 0 24 9 27.2727 SENP7 0 genome.wustl.edu 37 3 101062557 101062557 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 3 101062557 101062557 T G SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.2079 p.E693D 0.403 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 162 0 0 61 13 17.5676 SEC61A1 0 genome.wustl.edu 37 3 127785877 127785877 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 3 127785877 127785877 G A SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known silent c.858 p.T286 0.994 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 178 0 0 71 13 15.4762 SEC61A1 0 genome.wustl.edu 37 3 127785925 127785925 + Silent SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 3 127785925 127785925 T C SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known silent c.906 p.Y302 0.997 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 221 0 0 92 6 6.12245 MRPS22 0 genome.wustl.edu 37 3 139067023 139067023 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 3 139067023 139067023 G A SNP MRPS22 ENST00000310776 human ensembl 74_37 +1 known missense c.361 p.A121T 1.000 pfam_Ribosomal_S22_mit pfam_Ribosomal_S22_mit - no_errors MRPS22 HGNC ENSG00000175110 75 0 0 41 6 12.766 SCN5A 0 genome.wustl.edu 37 3 38651357 38651357 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 3 38651357 38651357 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.802 p.G268S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 141 0 0 34 6 15 SNRK 0 genome.wustl.edu 37 3 43389767 43389767 + Missense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 3 43389767 43389767 G T SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.2016 p.L672F 0.198 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 186 1 0.534759 56 16 22.2222 LIMD1 0 genome.wustl.edu 37 3 45677682 45677682 + Silent SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 3 45677682 45677682 C G SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known silent c.1449 p.G483 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 509 1 0.196078 147 34 18.7845 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 197 0 0 45 23 33.8235 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 313 0 0 46 7 13.2075 GRM2 0 genome.wustl.edu 37 3 51749144 51749144 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 3 51749144 51749144 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.1355 p.R452H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 162 0 0 40 8 16.6667 SFMBT1 0 genome.wustl.edu 37 3 52946639 52946639 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 3 52946639 52946639 C T SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known missense c.1645 p.A549T 1.000 pfam_DUF3588 pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 112 0 0 30 9 23.0769 COL25A1 0 genome.wustl.edu 37 4 109841761 109841761 + Splice_Site SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 109841761 109841761 C T SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known splice_site c.709-1 e11-1 1.000 - - - no_errors COL25A1 HGNC ENSG00000188517 84 0 0 23 7 23.3333 SEC24B 0 genome.wustl.edu 37 4 110437729 110437729 + Missense_Mutation SNP T T A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 110437729 110437729 T A SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.2059 p.S687T 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 49 0 0 13 4 23.5294 NDNF 0 genome.wustl.edu 37 4 121966864 121966864 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 121966864 121966864 C T SNP NDNF ENST00000379692 human ensembl 74_37 -1 known silent c.129 p.S43 0.118 NULL pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 87 0 0 54 10 15.625 TRPC3 0 genome.wustl.edu 37 4 122853759 122853759 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 122853759 122853759 G A SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known silent c.654 p.D218 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 72 0 0 27 6 18.1818 PCDH10 0 genome.wustl.edu 37 4 134072543 134072543 + Silent SNP T T A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 134072543 134072543 T A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.1248 p.V416 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 432 0 0 148 27 15.4286 PCDH10 0 genome.wustl.edu 37 4 134073243 134073243 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 134073243 134073243 C A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1948 p.P650T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 69 0 0 33 6 15.3846 CTSO 0 genome.wustl.edu 37 4 156849542 156849542 + Missense_Mutation SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 156849542 156849542 T C SNP CTSO ENST00000433477 human ensembl 74_37 -1 known missense c.877 p.S293G 0.007 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 119 0 0 45 7 13.4615 NEIL3 0 genome.wustl.edu 37 4 178231192 178231192 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 178231192 178231192 G A SNP NEIL3 ENST00000264596 human ensembl 74_37 +1 known missense c.85 p.G29R 0.979 pfscan_DNA_glycosylase/AP_lyase_cat pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 53 0 0 7 5 41.6667 CLDN22 0 genome.wustl.edu 37 4 184240855 184240855 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 184240855 184240855 C T SNP CLDN22 ENST00000323319 human ensembl 74_37 -1 known missense c.517 p.G173R 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN22 HGNC ENSG00000177300 81 0 0 63 13 17.1053 TRIML1 0 genome.wustl.edu 37 4 189061106 189061106 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 189061106 189061106 G A SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known missense c.394 p.E132K 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 110 0 0 39 5 11.3636 TLR1 0 genome.wustl.edu 37 4 38799339 38799339 + Missense_Mutation SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 38799339 38799339 T C SNP TLR1 ENST00000308979 human ensembl 74_37 -1 known missense c.1114 p.T372A 0.000 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 52 0 0 47 5 9.61538 POLR2B 0 genome.wustl.edu 37 4 57873014 57873014 + Missense_Mutation SNP T T A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 57873014 57873014 T A SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known missense c.1250 p.I417N 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 148 0 0 46 10 17.8571 ZNF595 0 genome.wustl.edu 37 4 60009 60009 + Nonsense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 60009 60009 C A SNP ZNF595 ENST00000526473 human ensembl 74_37 +1 known nonsense c.189 p.C63* 0.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF595 HGNC ENSG00000197701 405 1 0.246305 98 8 7.54717 PDE6B 0 genome.wustl.edu 37 4 619713 619713 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 619713 619713 C T SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.298 p.R100C 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 19 0 0 7 5 41.6667 CPLX1 0 genome.wustl.edu 37 4 780405 780405 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 780405 780405 G A SNP CPLX1 ENST00000304062 human ensembl 74_37 -1 known missense c.289 p.P97S 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX1 HGNC ENSG00000168993 47 0 0 15 3 16.6667 C4orf22 0 genome.wustl.edu 37 4 81791226 81791226 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 81791226 81791226 C T SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known missense c.464 p.T155M 0.001 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 154 0 0 74 10 11.9048 FAM13A 0 genome.wustl.edu 37 4 89912232 89912232 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 4 89912232 89912232 C T SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known missense c.497 p.C166Y 0.998 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 58 0 0 39 7 15.2174 KCNN2 0 genome.wustl.edu 37 5 113699632 113699632 + Nonsense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 5 113699632 113699632 C A SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known nonsense c.516 p.C172* 1.000 pfam_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 140 0 0 34 13 27.6596 MEGF10 0 genome.wustl.edu 37 5 126754837 126754837 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 5 126754837 126754837 C G SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.1331 p.P444R 0.933 smart_EGF_laminin pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 219 0 0 93 8 7.92079 PCDHA12 0 genome.wustl.edu 37 5 140256590 140256590 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 5 140256590 140256590 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.1533 p.H511 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 230 0 0 77 14 15.3846 PCDHAC1 0 genome.wustl.edu 37 5 140308104 140308104 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 5 140308104 140308104 T G SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.1627 p.L543V 0.251 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 220 0 0 66 30 31.25 PCDHB2 0 genome.wustl.edu 37 5 140475135 140475135 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 5 140475135 140475135 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.761 p.P254L 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 121 1 0.819672 25 19 43.1818 POU4F3 0 genome.wustl.edu 37 5 145719186 145719186 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 5 145719186 145719186 G A SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known missense c.196 p.V66I 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 188 0 0 51 21 29.1667 THBS4 0 genome.wustl.edu 37 5 79355588 79355588 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 5 79355588 79355588 C A SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.847 p.P283T 0.871 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 327 2 0.607903 83 38 31.405 ASCC3 0 genome.wustl.edu 37 6 101076966 101076966 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 101076966 101076966 C A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.4300 p.V1434F 0.992 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 63 0 0 23 9 28.125 FIG4 0 genome.wustl.edu 37 6 110048334 110048334 + Silent SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 110048334 110048334 C G SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known silent c.312 p.G104 0.161 pfam_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 243 0 0 99 14 12.3894 HIVEP2 0 genome.wustl.edu 37 6 143092978 143092978 + Missense_Mutation SNP G G C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 143092978 143092978 G C SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.2898 p.S966R 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 161 0 0 43 27 38.5714 STX11 0 genome.wustl.edu 37 6 144508051 144508051 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 144508051 144508051 G A SNP STX11 ENST00000367568 human ensembl 74_37 +1 known missense c.287 p.R96Q 0.779 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 66 0 0 28 7 20 MAP3K4 0 genome.wustl.edu 37 6 161512447 161512447 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 161512447 161512447 G A SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.3010 p.A1004T 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 MAP3K4 HGNC ENSG00000085511 264 0 0 88 52 37.1429 HIST1H4H 0 genome.wustl.edu 37 6 26285677 26285677 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 26285677 26285677 C A SNP HIST1H4H ENST00000289352 human ensembl 74_37 -1 known missense c.51 p.K17N 1.000 superfamily_Histone-fold,smart_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4H HGNC ENSG00000158406 162 0 0 48 11 18.6441 OR2W1 0 genome.wustl.edu 37 6 29012625 29012625 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 29012625 29012625 C T SNP OR2W1 ENST00000377175 human ensembl 74_37 -1 known missense c.328 p.V110I 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W1 HGNC ENSG00000204704 74 0 0 45 5 10 OR2J1 0 genome.wustl.edu 37 6 29069623 29069623 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 29069623 29069623 G A SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known missense c.904 p.V302M 0.380 pfam_7TM_GPCR_olfarory/Srsx pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 67 0 0 28 6 17.6471 HLA-DRB6 0 genome.wustl.edu 37 6 32522570 32522570 + RNA SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 32522570 32522570 G A SNP HLA-DRB6 ENST00000411500 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HLA-DRB6 HGNC ENSG00000229391 51 0 0 23 4 14.8148 RRP36 0 genome.wustl.edu 37 6 42995125 42995125 + Nonsense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 42995125 42995125 C T SNP RRP36 ENST00000244496 human ensembl 74_37 +1 known nonsense c.553 p.R185* 0.017 pfam_DUF947 pfam_DUF947 - no_errors RRP36 HGNC ENSG00000124541 106 0 0 56 9 13.8462 RCAN2 0 genome.wustl.edu 37 6 46190976 46190976 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 46190976 46190976 C T SNP RCAN2 ENST00000306764 human ensembl 74_37 -1 known missense c.634 p.D212N 1.000 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN2 HGNC ENSG00000172348 234 0 0 36 45 55.5556 PKHD1 0 genome.wustl.edu 37 6 51913367 51913367 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 51913367 51913367 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.2330 p.T777M 0.011 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 107 0 0 51 7 12.069 KHDRBS2 0 genome.wustl.edu 37 6 62611271 62611271 + Nonsense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 62611271 62611271 G T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known nonsense c.489 p.Y163* 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 82 0 0 51 6 10.5263 TMEM30A 0 genome.wustl.edu 37 6 75968636 75968636 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 6 75968636 75968636 C T SNP TMEM30A ENST00000230461 human ensembl 74_37 -1 known missense c.752 p.G251E 1.000 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30A HGNC ENSG00000112697 67 0 0 28 8 22.2222 GPER1 0 genome.wustl.edu 37 7 1132016 1132016 + Missense_Mutation SNP G G C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 7 1132016 1132016 G C SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known missense c.652 p.E218Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 36 0 0 6 7 53.8462 AOC1 0 genome.wustl.edu 37 7 150557647 150557647 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 7 150557647 150557647 C T SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known missense c.1972 p.H658Y 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 142 0 0 35 16 31.3725 CCDC129 0 genome.wustl.edu 37 7 31682400 31682400 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 7 31682400 31682400 G A SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known silent c.1494 p.S498 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 202 1 0.492611 40 22 35.4839 SDK1 0 genome.wustl.edu 37 7 4188957 4188957 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 7 4188957 4188957 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.4487 p.R1496Q 0.002 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 32 0 0 6 7 53.8462 GRB10 0 genome.wustl.edu 37 7 50737431 50737431 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 7 50737431 50737431 G A SNP GRB10 ENST00000398812 human ensembl 74_37 -1 known silent c.492 p.A164 0.000 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB10 HGNC ENSG00000106070 40 0 0 16 4 20 SLC29A4 0 genome.wustl.edu 37 7 5327609 5327609 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 7 5327609 5327609 G A SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known silent c.162 p.T54 0.180 NULL pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 55 0 0 12 7 36.8421 FZD1 0 genome.wustl.edu 37 7 90895618 90895618 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 7 90895618 90895618 G A SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known missense c.1423 p.G475R 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 298 0 0 114 23 16.7883 ATAD2 0 genome.wustl.edu 37 8 124371477 124371477 + Missense_Mutation SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 124371477 124371477 T C SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.1366 p.K456E 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 174 0 0 84 15 15.1515 TUSC3 0 genome.wustl.edu 37 8 15480610 15480610 + Nonsense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 15480610 15480610 G T SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known nonsense c.160 p.E54* 1.000 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 70 0 0 36 5 12.1951 ADRA1A 0 genome.wustl.edu 37 8 26721669 26721669 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 26721669 26721669 G A SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.818 p.T273M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 63 0 0 31 6 16.2162 ZNF395 0 genome.wustl.edu 37 8 28206254 28206254 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 28206254 28206254 G A SNP ZNF395 ENST00000344423 human ensembl 74_37 -1 known silent c.1524 p.C508 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 131 0 0 43 7 14 UNC5D 0 genome.wustl.edu 37 8 35588560 35588560 + Missense_Mutation SNP T T A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 35588560 35588560 T A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1712 p.I571N 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 76 0 0 25 5 16.6667 CSMD1 0 genome.wustl.edu 37 8 3855478 3855478 + Silent SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 3855478 3855478 T C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known silent c.765 p.L255 0.144 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 26 0 0 11 3 21.4286 ZMAT4 0 genome.wustl.edu 37 8 40554921 40554921 + Splice_Site SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 40554921 40554921 C T SNP ZMAT4 ENST00000297737 human ensembl 74_37 -1 known splice_site c.193-1 e3-1 1.000 - - - no_errors ZMAT4 HGNC ENSG00000165061 54 0 0 22 9 29.0323 SNTG1 0 genome.wustl.edu 37 8 51571221 51571221 + Nonsense_Mutation SNP A A T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 51571221 51571221 A T SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known nonsense c.1036 p.K346* 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 113 0 0 45 7 13.4615 SDCBP 0 genome.wustl.edu 37 8 59484832 59484832 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 59484832 59484832 C T SNP SDCBP ENST00000260130 human ensembl 74_37 +1 known missense c.199 p.R67C 0.026 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC ENSG00000137575 331 0 0 102 15 12.8205 TRIM55 0 genome.wustl.edu 37 8 67040664 67040664 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 67040664 67040664 C A SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known missense c.294 p.N98K 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 227 1 0.438596 79 13 14.1304 C8orf34 0 genome.wustl.edu 37 8 69621266 69621266 + Missense_Mutation SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 69621266 69621266 T C SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.1279 p.S427P 0.130 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 54 0 0 26 4 13.3333 XKR9 0 genome.wustl.edu 37 8 71646321 71646321 + Silent SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 71646321 71646321 T C SNP XKR9 ENST00000408926 human ensembl 74_37 +1 known silent c.784 p.L262 0.241 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC ENSG00000221947 62 0 0 38 8 17.3913 ZNF462 0 genome.wustl.edu 37 9 109690843 109690843 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 9 109690843 109690843 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known silent c.4650 p.H1550 0.975 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 47 0 0 31 3 8.82353 ASTN2 0 genome.wustl.edu 37 9 120053656 120053656 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 9 120053656 120053656 C A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.579 p.E193D 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 118 1 0.840336 50 6 10.7143 TLR4 0 genome.wustl.edu 37 9 120475046 120475046 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 9 120475046 120475046 C G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.640 p.P214A 0.315 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 150 0 0 62 9 12.6761 NR6A1 0 genome.wustl.edu 37 9 127298387 127298387 + Silent SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 9 127298387 127298387 T C SNP NR6A1 ENST00000487099 human ensembl 74_37 -1 known silent c.849 p.L283 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 204 0 0 69 10 12.6582 ENG 0 genome.wustl.edu 37 9 130587127 130587127 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 9 130587127 130587127 C T SNP ENG ENST00000373203 human ensembl 74_37 -1 known missense c.943 p.V315M 0.919 NULL pfam_ZP_dom - no_errors ENG HGNC ENSG00000106991 75 0 0 20 8 28.5714 SETX 0 genome.wustl.edu 37 9 135205035 135205035 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 9 135205035 135205035 C A SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.1950 p.M650I 0.101 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 99 0 0 37 9 19.5652 KCNT1 0 genome.wustl.edu 37 9 138683644 138683644 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 9 138683644 138683644 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known silent c.3567 p.D1189 0.881 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 203 0 0 51 14 21.5385 PNPLA7 0 genome.wustl.edu 37 9 140437937 140437937 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 9 140437937 140437937 G A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known silent c.453 p.D151 0.955 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 161 0 0 45 4 8.16327 BNC2 0 genome.wustl.edu 37 9 16435946 16435946 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 9 16435946 16435946 C T SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.2246 p.S749N 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 67 0 0 27 18 40 BNC2 0 genome.wustl.edu 37 9 16436469 16436469 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 9 16436469 16436469 T G SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.1723 p.S575R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 126 0 0 34 37 52.1127 APBA1 0 genome.wustl.edu 37 9 72131493 72131493 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 9 72131493 72131493 C T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.634 p.G212S 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 38 0 0 11 5 31.25 TRPC5 0 genome.wustl.edu 37 X 111195328 111195328 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 X 111195328 111195328 T G SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.321 p.E107D 0.997 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 256 0 0 73 18 19.7802 CT47B1 0 genome.wustl.edu 37 X 120008778 120008778 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 X 120008778 120008778 C T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known silent c.747 p.P249 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 447 1 0.223214 72 46 38.9831 TENM1 0 genome.wustl.edu 37 X 124030034 124030034 + Missense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 X 124030034 124030034 G T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.274 p.H92N 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 296 0 0 106 25 19.084 MPP1 0 genome.wustl.edu 37 X 154020565 154020565 + RNA SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 X 154020565 154020565 C A SNP MPP1 ENST00000488694 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MPP1 HGNC ENSG00000130830 133 0 0 39 14 26.4151 PHEX 0 genome.wustl.edu 37 X 22244602 22244602 + Nonsense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 X 22244602 22244602 G T SNP PHEX ENST00000379374 human ensembl 74_37 +1 known nonsense c.1942 p.G648* 1.000 pfam_Peptidase_M13_C,prints_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 335 0 0 60 9 13.0435 DMD 0 genome.wustl.edu 37 X 32490330 32490330 + Missense_Mutation SNP A A C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 X 32490330 32490330 A C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.2900 p.L967R 0.970 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 204 0 0 54 18 25 P2RY4 0 genome.wustl.edu 37 X 69478801 69478801 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 X 69478801 69478801 C G SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known missense c.674 p.R225P 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 98 0 0 21 8 27.5862 ATRX 0 genome.wustl.edu 37 X 76939922 76939922 + Missense_Mutation SNP A A C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 X 76939922 76939922 A C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.826 p.L276V 1.000 superfamily_Znf_FYVE_PHD pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 265 0 0 87 65 42.7632 SHROOM2 0 genome.wustl.edu 37 X 9864517 9864517 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 X 9864517 9864517 G A SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.2569 p.A857T 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 68 0 0 20 5 20 DIP2C 0 genome.wustl.edu 37 10 412274 412275 + Frame_Shift_Del DEL CA CA - TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 10 412274 412275 CA - DEL DIP2C ENST00000280886 human ensembl 74_37 -1 known frame_shift_del c.2209_2208 p.A737fs 0.993:0.946 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 78 0 0 23 3 11.5385 LUZP2 0 genome.wustl.edu 37 11 24518740 24518741 + RNA DEL AG AG - TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 24518740 24518741 AG - DEL LUZP2 ENST00000405855 human ensembl 74_37 +1 known rna NULL NULL 0.013:0.223 - - - no_errors LUZP2 HGNC ENSG00000187398 49 0 0 22 2 8.33333 OR4C12 0 genome.wustl.edu 37 11 50003129 50003129 + Frame_Shift_Del DEL T T - TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 50003129 50003129 T - DEL OR4C12 ENST00000335238 human ensembl 74_37 -1 known frame_shift_del c.909 p.V304fs 0.987 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 61 0 0 42 8 16 RASGRP2 0 genome.wustl.edu 37 11 64508387 64508388 + Frame_Shift_Ins INS - - C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 11 64508387 64508388 - C INS RASGRP2 ENST00000377486 human ensembl 74_37 -1 putative frame_shift_ins c.404_403 p.A135fs 0.000:0.001 NULL pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 82 0 0 30 10 25 IQCH 0 genome.wustl.edu 37 15 67664965 67664965 + Frame_Shift_Del DEL C C - TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 15 67664965 67664965 C - DEL IQCH ENST00000335894 human ensembl 74_37 +1 known frame_shift_del c.1270 p.Q424fs 0.001 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 337 0 0 79 36 31.3043 PSME4 0 genome.wustl.edu 37 2 54120866 54120874 + In_Frame_Del DEL AATGATAGA AATGATAGA - TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 AATGATAGA AATGATAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 2 54120866 54120874 AATGATAGA - DEL PSME4 ENST00000404125 human ensembl 74_37 -1 known in_frame_del c.3983_3975 p.FLS1325in_frame_del 1.000:1.000:1.000:1.000:1.000:0.994:1.000:1.000:1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 72 0 0 26 7 21.2121 VDAC1 0 genome.wustl.edu 37 5 133316707 133316708 + RNA INS - - T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 5 133316707 133316708 - T INS VDAC1 ENST00000492324 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors VDAC1 HGNC ENSG00000213585 33 0 0 16 2 11.1111 PUF60 0 genome.wustl.edu 37 8 144900386 144900387 + Frame_Shift_Ins INS - - CA TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 144900386 144900387 - CA INS PUF60 ENST00000526683 human ensembl 74_37 -1 known frame_shift_ins c.580_579 p.M193fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 51 0 0 11 2 15.3846 IMPAD1 0 genome.wustl.edu 37 8 57876548 57876549 + Frame_Shift_Ins INS - - G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 8 57876548 57876549 - G INS IMPAD1 ENST00000262644 human ensembl 74_37 -1 known frame_shift_ins c.884_883 p.Y295fs 1.000:1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors IMPAD1 HGNC ENSG00000104331 24 0 0 24 7 22.5806 MAP7D3 0 genome.wustl.edu 37 X 135313186 135313186 + RNA DEL T T - TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 X 135313186 135313186 T - DEL MAP7D3 ENST00000477124 human ensembl 74_37 -1 putative rna NULL NULL 0.018 - - - no_errors MAP7D3 HGNC ENSG00000129680 43 0 0 24 6 20