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 ABCA13 0 genome.wustl.edu 37 7 48314178 48314178 + Missense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 7 48314178 48314178 T A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.4915 p.F1639I 0.683 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 161 0 0.00 118 32 21.19 ADAMTS3 0 genome.wustl.edu 37 4 73154516 73154516 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 4 73154516 73154516 C T SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.3001 p.G1001S 0.994 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 tier1 - - 46 0 0.00 58 7 10.61 ADC 0 genome.wustl.edu 37 1 33585615 33585615 + RNA SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 33585615 33585615 C T SNP ADC ENST00000475935 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADC HGNC ENSG00000142920 tier1 - - 31 0 0.00 18 6 25.00 AGAP1 0 genome.wustl.edu 37 2 236659111 236659111 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 236659111 236659111 G A SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.652 p.V218M 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 tier1 - - 162 0 0.00 102 36 26.09 ATP7A 0 genome.wustl.edu 37 X 77245413 77245413 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 77245413 77245413 G A SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known missense c.1295 p.R432K 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 tier1 - - 128 0 0.00 85 5 5.56 BICD1 0 genome.wustl.edu 37 12 32458846 32458846 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 32458846 32458846 C T SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known silent c.795 p.I265 0.997 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 tier1 - - 34 0 0.00 254 21 7.64 C10orf76 0 genome.wustl.edu 37 10 103793096 103793096 + Missense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 10 103793096 103793096 T A SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.103 p.T35S 1.000 NULL pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 tier1 - - 82 0 0.00 48 14 22.22 C12orf23 0 genome.wustl.edu 37 12 107360887 107360887 + Splice_Site SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 107360887 107360887 A T SNP C12orf23 ENST00000280756 human ensembl 74_37 +1 known splice_site c.1-2 e1-2 0.983 - - - no_errors C12orf23 HGNC ENSG00000151135 tier1 - - 50 0 0.00 46 5 9.80 C17orf82 0 genome.wustl.edu 37 17 59489996 59489996 + Silent SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 59489996 59489996 G T SNP C17orf82 ENST00000335108 human ensembl 74_37 +1 known silent c.660 p.G220 0.000 NULL NULL - no_errors C17orf82 HGNC ENSG00000187013 tier1 - - 10 0 0.00 11 5 31.25 C22orf29 0 genome.wustl.edu 37 22 19839008 19839008 + Silent SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 22 19839008 19839008 C A SNP C22orf29 ENST00000328554 human ensembl 74_37 -1 known silent c.777 p.L259 0.000 NULL NULL - no_errors C22orf29 HGNC ENSG00000215012 153 0 0.00 114 6 5.00 CAMK2G 0 genome.wustl.edu 37 10 75608870 75608870 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 10 75608870 75608870 C T SNP CAMK2G ENST00000423381 human ensembl 74_37 -1 known missense c.418 p.E140K 1.000 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 pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2G HGNC ENSG00000148660 tier1 - - 69 0 0.00 108 22 16.92 CCDC47 0 genome.wustl.edu 37 17 61833661 61833661 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 61833661 61833661 G A SNP CCDC47 ENST00000225726 human ensembl 74_37 -1 known missense c.887 p.P296L 1.000 pfam_DUF1682 pfam_DUF1682 - no_errors CCDC47 HGNC ENSG00000108588 tier1 rs146769873 - 82 0 0.00 70 33 32.04 CDH13 0 genome.wustl.edu 37 16 83065695 83065695 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 16 83065695 83065695 G A SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.238 p.G80S 0.000 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 tier1 - - 20 0 0.00 12 6 33.33 CERCAM 0 genome.wustl.edu 37 9 131186792 131186792 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 9 131186792 131186792 G A SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known missense c.665 p.R222Q 1.000 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 tier1 - - 132 0 0.00 104 41 28.08 CHD6 0 genome.wustl.edu 37 20 40050378 40050378 + Missense_Mutation SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 20 40050378 40050378 A G SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.4897 p.Y1633H 0.997 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 tier1 - - 51 0 0.00 70 12 14.63 CNOT7 0 genome.wustl.edu 37 8 17102642 17102642 + Missense_Mutation SNP T T C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 8 17102642 17102642 T C SNP CNOT7 ENST00000361272 human ensembl 74_37 -1 known missense c.20 p.D7G 1.000 NULL pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT7 HGNC ENSG00000198791 tier1 - - 59 0 0.00 31 10 24.39 CNTNAP4 0 genome.wustl.edu 37 16 76481974 76481974 + Missense_Mutation SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 16 76481974 76481974 A G SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.601 p.S201G 0.986 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 tier1 - - 67 0 0.00 29 15 34.09 COL9A3 0 genome.wustl.edu 37 20 61460839 61460839 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 20 61460839 61460839 G A SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known silent c.1041 p.E347 1.000 NULL pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 tier1 - - 67 0 0.00 57 12 17.39 COLEC12 0 genome.wustl.edu 37 18 346722 346722 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 18 346722 346722 G A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known silent c.900 p.I300 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 tier1 - - 83 0 0.00 69 66 48.89 CPXCR1 0 genome.wustl.edu 37 X 88008812 88008812 + Nonsense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 88008812 88008812 C T SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known nonsense c.397 p.R133* 0.004 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 tier1 - - 45 0 0.00 35 5 12.50 CSMD1 0 genome.wustl.edu 37 8 3611558 3611558 + Silent SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 8 3611558 3611558 A T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known silent c.825 p.T275 0.472 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 tier1 - - 40 0 0.00 24 7 22.58 CUEDC1 0 genome.wustl.edu 37 17 55962641 55962641 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 55962641 55962641 G A SNP CUEDC1 ENST00000360238 human ensembl 74_37 -1 known silent c.285 p.S95 0.663 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors CUEDC1 HGNC ENSG00000180891 tier1 - - 109 0 0.00 80 28 25.69 DDX25 0 genome.wustl.edu 37 11 125780346 125780346 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 125780346 125780346 G C SNP DDX25 ENST00000263576 human ensembl 74_37 +1 known missense c.595 p.V199L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX25 HGNC ENSG00000109832 tier1 - - 94 0 0.00 70 28 28.57 DDX39A 0 genome.wustl.edu 37 19 14521257 14521257 + RNA SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 14521257 14521257 G A SNP DDX39A ENST00000592927 human ensembl 74_37 -1 known rna NULL NULL 0.037 - - - no_errors DDX39A HGNC ENSG00000123136 tier1 - - 15 0 0.00 13 5 26.32 DENND6A 0 genome.wustl.edu 37 3 57632109 57632109 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 3 57632109 57632109 C A SNP DENND6A ENST00000311128 human ensembl 74_37 -1 known missense c.875 p.G292V 1.000 pfam_Afi1_N,pfam_DENN_dom pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 tier1 - - 55 0 0.00 62 6 8.82 DEPDC1B 0 genome.wustl.edu 37 5 59940671 59940671 + Nonsense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 59940671 59940671 C A SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known nonsense c.610 p.E204* 1.000 pfscan_RhoGAP_dom pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 tier1 - - 44 0 0.00 30 11 26.83 DGCR14 0 genome.wustl.edu 37 22 19127524 19127524 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 22 19127524 19127524 C G SNP DGCR14 ENST00000252137 human ensembl 74_37 -1 known missense c.414 p.E138D 0.995 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 tier1 - - 168 0 0.00 67 38 36.19 DMXL1 0 genome.wustl.edu 37 5 118485816 118485816 + Missense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 118485816 118485816 T A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.4294 p.L1432I 0.220 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 tier1 - - 86 0 0.00 30 23 43.40 DND1 0 genome.wustl.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 140052285 140052285 T - DEL DND1 ENST00000542735 human ensembl 74_37 -1 known frame_shift_del c.349 p.T117fs 0.986 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DND1 HGNC ENSG00000256453 tier1 19 0 0.00 19 5 20.83 DOCK11 0 genome.wustl.edu 37 X 117796708 117796708 + Nonsense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 117796708 117796708 G T SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known nonsense c.5029 p.G1677* 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 tier1 - - 69 0 0.00 49 11 18.33 DPP8 0 genome.wustl.edu 37 15 65790304 65790304 + Missense_Mutation SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 15 65790304 65790304 A T SNP DPP8 ENST00000341861 human ensembl 74_37 -1 known missense c.661 p.C221S 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 tier1 - - 101 0 0.00 81 23 22.12 DSG3 0 genome.wustl.edu 37 18 29055855 29055855 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 18 29055855 29055855 G A SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.2632 p.G878S 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 tier1 - - 125 0 0.00 140 10 6.67 E4F1 0 genome.wustl.edu 37 16 2282899 2282899 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 16 2282899 2282899 C T SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known silent c.873 p.D291 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 tier1 - - 77 0 0.00 41 17 29.31 EHBP1 0 genome.wustl.edu 37 2 63182694 63182694 + Missense_Mutation SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 63182694 63182694 A G SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.2464 p.R822G 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 tier1 - - 30 0 0.00 29 10 25.64 EHMT2 0 genome.wustl.edu 37 6 31864396 31864396 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 31864396 31864396 G A SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known silent c.486 p.G162 0.505 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 tier1 - - 167 0 0.00 248 65 20.77 ENSG00000236986 0 genome.wustl.edu 37 9 134008392 134008392 + RNA DEL T T - TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 9 134008392 134008392 T - DEL ENSG00000236986 ENST00000587264 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-544A12.4 Clone_based_vega_gene ENSG00000236986 tier1 23 0 0.00 23 2 8.00 ENSG00000271936 0 genome.wustl.edu 37 2 25049001 25049001 + RNA SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 25049001 25049001 G C SNP ENSG00000271936 ENST00000606114 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors RP11-443B20.1 Clone_based_vega_gene ENSG00000271936 tier1 - - 53 0 0.00 33 12 26.67 ENSG00000272056 0 genome.wustl.edu 37 2 27276504 27276505 + RNA INS - - T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 27276504 27276505 - T INS ENSG00000272056 ENST00000607407 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-503P10.1 Clone_based_vega_gene ENSG00000272056 tier1 26 0 0.00 26 3 10.34 FAM114A1 0 genome.wustl.edu 37 4 38916636 38916636 + Missense_Mutation SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 4 38916636 38916636 A T SNP FAM114A1 ENST00000358869 human ensembl 74_37 +1 known missense c.887 p.Y296F 1.000 pfam_DUF719 pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 tier1 - - 75 0 0.00 70 5 6.67 FAM122C 0 genome.wustl.edu 37 X 133988303 133988303 + RNA SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 133988303 133988303 G C SNP FAM122C ENST00000463842 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM122C HGNC ENSG00000156500 tier1 - - 10 0 0.00 7 5 41.67 FAM151A 0 genome.wustl.edu 37 1 55075100 55075100 + Silent SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 55075100 55075100 G T SNP FAM151A ENST00000302250 human ensembl 74_37 -1 known silent c.1599 p.P533 0.559 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 tier1 - - 120 0 0.00 86 36 29.51 FAM182B 0 genome.wustl.edu 37 20 25848617 25848617 + RNA SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 20 25848617 25848617 A G SNP FAM182B ENST00000424021 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors FAM182B HGNC ENSG00000175170 tier1 - - 19 0 0.00 6 3 33.33 FAM209B 0 genome.wustl.edu 37 20 55108405 55108405 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 20 55108405 55108405 C T SNP FAM209B ENST00000371325 human ensembl 74_37 +1 known missense c.8 p.T3M 0.256 NULL NULL - no_errors FAM209B HGNC ENSG00000213714 tier1 - - 173 0 0.00 120 48 28.57 FCHSD2 0 genome.wustl.edu 37 11 72554209 72554209 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 72554209 72554209 G A SNP FCHSD2 ENST00000409418 human ensembl 74_37 -1 known silent c.1692 p.N564 0.990 NULL pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 tier1 - - 42 0 0.00 28 8 22.22 FLNB 0 genome.wustl.edu 37 3 58139200 58139200 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 3 58139200 58139200 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.6466 p.R2156W 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 tier1 - - 110 0 0.00 98 34 25.76 GBP3 0 genome.wustl.edu 37 1 89486355 89486355 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 89486355 89486355 G C SNP GBP3 ENST00000370481 human ensembl 74_37 -1 known missense c.50 p.T17S 0.005 superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP3 HGNC ENSG00000117226 tier1 - - 121 0 0.00 97 34 25.95 GDF15 0 genome.wustl.edu 37 19 18499410 18499410 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 18499410 18499410 C G SNP GDF15 ENST00000252809 human ensembl 74_37 +1 known missense c.592 p.R198G 0.356 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF15 HGNC ENSG00000130513 tier1 - - 28 0 0.00 22 7 24.14 GFPT1 0 genome.wustl.edu 37 2 69565670 69565670 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 69565670 69565670 C G SNP GFPT1 ENST00000357308 human ensembl 74_37 -1 known missense c.1231 p.E411Q 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 tier1 - - 75 0 0.00 66 7 9.59 GHR 0 genome.wustl.edu 37 5 42718570 42718570 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 42718570 42718570 G A SNP GHR ENST00000230882 human ensembl 74_37 +1 known missense c.961 p.E321K 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 tier1 - - 213 0 0.00 185 15 7.50 GORASP2 0 genome.wustl.edu 37 2 171806765 171806765 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 171806765 171806765 G A SNP GORASP2 ENST00000452526 human ensembl 74_37 +1 known missense c.436 p.D146N 1.000 pfam_GRASP55/65_PDZ,superfamily_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP2 HGNC ENSG00000115806 tier1 - - 61 0 0.00 74 17 18.48 HCCS 0 genome.wustl.edu 37 X 11135397 11135397 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 11135397 11135397 C A SNP HCCS ENST00000321143 human ensembl 74_37 +1 known missense c.263 p.P88Q 1.000 pfam_Cyt_C/C1_haem_lyase pfam_Cyt_C/C1_haem_lyase - no_errors HCCS HGNC ENSG00000004961 tier1 - - 157 0 0.00 109 36 24.83 HEXDC 0 genome.wustl.edu 37 17 80399097 80399097 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 80399097 80399097 G A SNP HEXDC ENST00000337014 human ensembl 74_37 +1 known missense c.1207 p.A403T 1.000 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 tier1 - - 156 0 0.00 104 35 25.00 HEYL 0 genome.wustl.edu 37 1 40092770 40092770 + Silent SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 40092770 40092770 C A SNP HEYL ENST00000372852 human ensembl 74_37 -1 known silent c.396 p.L132 1.000 pfam_Orange,smart_Orange_subgr,pfscan_Orange pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HEYL HGNC ENSG00000163909 tier1 - - 89 0 0.00 65 18 21.69 HHIPL2 0 genome.wustl.edu 37 1 222717244 222717244 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 222717244 222717244 G A SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known silent c.609 p.G203 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 tier1 - - 81 0 0.00 49 21 30.00 IFNB1 0 genome.wustl.edu 37 9 21077518 21077518 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 9 21077518 21077518 G A SNP IFNB1 ENST00000380232 human ensembl 74_37 -1 known silent c.351 p.N117 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNB1 HGNC ENSG00000171855 tier1 - - 190 0 0.00 129 58 31.02 IL17RD 0 genome.wustl.edu 37 3 57148762 57148762 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 3 57148762 57148762 C T SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known missense c.268 p.D90N 1.000 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 tier1 - - 41 0 0.00 33 4 10.81 IRF6 0 genome.wustl.edu 37 1 209961959 209961959 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 209961959 209961959 C T SNP IRF6 ENST00000367021 human ensembl 74_37 -1 known missense c.1210 p.E404K 0.999 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 tier1 - - 61 0 0.00 34 19 35.85 KMT2D 0 genome.wustl.edu 37 12 49427330 49427330 + Nonsense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 49427330 49427330 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.11158 p.Q3720* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 63 0 0.00 81 14 14.74 L3MBTL1 0 genome.wustl.edu 37 20 42143771 42143771 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 20 42143771 42143771 G A SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known missense c.559 p.D187N 0.007 NULL pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 tier1 - - 144 0 0.00 122 11 8.27 LAMC1 0 genome.wustl.edu 37 1 183085791 183085791 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 183085791 183085791 G A SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.1408 p.E470K 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 tier1 - - 114 0 0.00 89 7 7.29 LARP4B 0 genome.wustl.edu 37 10 860754 860754 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 10 860754 860754 G C SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known missense c.1857 p.H619Q 0.072 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 17 0 0.00 20 4 16.67 LOC283693 0 genome.wustl.edu 37 15 83395038 83395038 + RNA SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 15 83395038 83395038 A T SNP LOC283693 ENST00000560958 human ensembl 74_37 -1 known rna NULL NULL 0.222 - - - no_errors RP11-752G15.9 Clone_based_vega_gene ENSG00000259315 tier1 - - 15 0 0.00 8 7 46.67 MAGEC1 0 genome.wustl.edu 37 X 140996082 140996082 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 140996082 140996082 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.2892 p.S964 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 245 0 0.00 222 12 5.13 MARCH1 0 genome.wustl.edu 37 4 164534501 164534501 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 4 164534501 164534501 C G SNP MARCH1 ENST00000274056 human ensembl 74_37 -1 known missense c.207 p.R69S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH1 HGNC ENSG00000145416 tier1 - - 98 0 0.00 55 27 32.93 MATR3 0 genome.wustl.edu 37 5 138661124 138661124 + Missense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 138661124 138661124 T A SNP MATR3 ENST00000394800 human ensembl 74_37 +1 novel missense c.2288 p.I763N 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 52 0 0.00 34 8 18.60 MDN1 0 genome.wustl.edu 37 6 90494814 90494814 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 90494814 90494814 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.1366 p.P456S 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 206 0 0.00 124 15 10.79 MED23 0 genome.wustl.edu 37 6 131917212 131917212 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 131917212 131917212 C A SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.2888 p.G963V 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 tier1 - - 128 0 0.00 115 18 13.53 METTL9 0 genome.wustl.edu 37 16 21624099 21624099 + Missense_Mutation SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 16 21624099 21624099 A G SNP METTL9 ENST00000358154 human ensembl 74_37 +1 known missense c.299 p.Y100C 1.000 pfam_DREV_MeTrfase pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11 - no_errors METTL9 HGNC ENSG00000197006 tier1 - - 67 0 0.00 54 24 30.77 MIIP 0 genome.wustl.edu 37 1 12089071 12089071 + RNA SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 12089071 12089071 G A SNP MIIP ENST00000492256 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIIP HGNC ENSG00000116691 tier1 - - 57 0 0.00 58 30 34.09 MORN5 0 genome.wustl.edu 37 9 124929060 124929060 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 9 124929060 124929060 G A SNP MORN5 ENST00000536616 human ensembl 74_37 +1 known missense c.61 p.A21T 0.620 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors MORN5 HGNC ENSG00000185681 23 0 0.00 29 4 12.12 MOV10L1 0 genome.wustl.edu 37 22 50553554 50553554 + Missense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 22 50553554 50553554 T A SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known missense c.1138 p.C380S 0.000 NULL superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 tier1 - - 120 0 0.00 43 37 46.25 MUC16 0 genome.wustl.edu 37 19 9046510 9046510 + Missense_Mutation SNP A A C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 9046510 9046510 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.35121 p.S11707R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 149 0 0.00 128 8 5.88 MUC6 0 genome.wustl.edu 37 11 1016179 1016179 + Missense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 1016179 1016179 T A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.6622 p.I2208F 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,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 MUC6 HGNC ENSG00000184956 tier1 - - 43 0 0.00 18 9 33.33 MYH4 0 genome.wustl.edu 37 17 10367836 10367836 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 10367836 10367836 C A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.601 p.V201F 0.983 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,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 50 0 0.00 50 17 25.37 MYO15A 0 genome.wustl.edu 37 17 18051478 18051478 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 18051478 18051478 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.6645 p.A2215 0.844 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 103 0 0.00 98 94 48.96 MYO5A 0 genome.wustl.edu 37 15 52689432 52689432 + Missense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 15 52689432 52689432 G T SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.1285 p.Q429K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 tier1 - - 76 0 0.00 57 29 33.72 NBPF1 0 genome.wustl.edu 37 1 16909134 16909134 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 16909134 16909134 G A SNP NBPF1 ENST00000430580 human ensembl 74_37 -1 novel missense c.1211 p.P404L 0.001 NULL pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 tier1 rs201581469 - 57 0 0.00 37 4 9.76 NBPF10 0 genome.wustl.edu 37 1 145303942 145303942 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 145303942 145303942 G A SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.1339 p.V447I 0.003 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 tier1 - - 263 0 0.00 218 52 19.26 NCSTN 0 genome.wustl.edu 37 1 160328098 160328098 + RNA SNP A A C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 160328098 160328098 A C SNP NCSTN ENST00000469159 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NCSTN HGNC ENSG00000162736 tier1 - - 61 0 0.00 50 16 24.24 NES 0 genome.wustl.edu 37 1 156641841 156641841 + Silent SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 156641841 156641841 A T SNP NES ENST00000368223 human ensembl 74_37 -1 known silent c.2139 p.S713 0.000 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 tier1 - - 81 0 0.00 68 34 33.33 NKAP 0 genome.wustl.edu 37 X 119064118 119064118 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 119064118 119064118 C A SNP NKAP ENST00000371410 human ensembl 74_37 -1 known missense c.934 p.A312S 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 tier1 - - 128 0 0.00 68 25 26.88 NRXN1 0 genome.wustl.edu 37 2 51254965 51254965 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 51254965 51254965 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.447 p.V149 0.994 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 59 0 0.00 35 16 31.37 OGG1 0 genome.wustl.edu 37 3 9798575 9798575 + RNA SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 3 9798575 9798575 C G SNP OGG1 ENST00000383825 human ensembl 74_37 +1 known rna NULL NULL 0.312 - - - no_errors OGG1 HGNC ENSG00000114026 tier1 - - 66 0 0.00 47 23 32.86 OR52B6 0 genome.wustl.edu 37 11 5603050 5603050 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 5603050 5603050 G A SNP OR52B6 ENST00000345043 human ensembl 74_37 +1 known missense c.944 p.R315K 0.859 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B6 HGNC ENSG00000187747 tier1 - - 143 0 0.00 81 12 12.90 OR5D13 0 genome.wustl.edu 37 11 55540935 55540935 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 55540935 55540935 C A SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.22 p.Q8K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 tier1 - - 160 0 0.00 107 27 20.15 OR8U1 0 genome.wustl.edu 37 11 56143410 56143410 + Missense_Mutation SNP T T G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 56143410 56143410 T G SNP OR8U1 ENST00000302270 human ensembl 74_37 +1 known missense c.311 p.F104C 0.086 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 tier1 - - 161 0 0.00 93 48 34.04 P4HB 0 genome.wustl.edu 37 17 79813048 79813048 + Silent SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 79813048 79813048 G C SNP P4HB ENST00000331483 human ensembl 74_37 -1 known silent c.594 p.L198 0.025 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 tier1 - - 332 0 0.00 244 87 26.28 PACSIN3 0 genome.wustl.edu 37 11 47202174 47202174 + Silent SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 47202174 47202174 C G SNP PACSIN3 ENST00000298838 human ensembl 74_37 -1 known silent c.279 p.A93 0.666 pfam_FCH_dom,smart_FCH_dom pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 tier1 - - 71 0 0.00 63 27 29.67 PARP11 0 genome.wustl.edu 37 12 3921167 3921167 + RNA DEL T T - TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 3921167 3921167 T - DEL PARP11 ENST00000476985 human ensembl 74_37 -1 known rna NULL NULL 0.952 - - - no_errors PARP11 HGNC ENSG00000111224 tier1 8 0 0.00 2 3 60.00 PCDH9 0 genome.wustl.edu 37 13 67801360 67801360 + Silent SNP T T G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 13 67801360 67801360 T G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.1213 p.R405 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 112 0 0.00 62 25 28.74 PDZRN4 0 genome.wustl.edu 37 12 41967633 41967633 + Missense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 41967633 41967633 G T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.3052 p.A1018S 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 tier1 - - 57 0 0.00 72 7 8.86 PHF12 0 genome.wustl.edu 37 17 27237293 27237293 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 27237293 27237293 C T SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known silent c.2310 p.P770 0.082 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 tier1 - - 100 0 0.00 79 31 28.18 PIK3C2A 0 genome.wustl.edu 37 11 17170212 17170212 + Splice_Site SNP A A C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 17170212 17170212 A C SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known splice_site c.1448+2 e4+2 1.000 - - - no_errors PIK3C2A HGNC ENSG00000011405 tier1 - - 32 0 0.00 31 14 31.11 PLP2 0 genome.wustl.edu 37 X 49029916 49029916 + Missense_Mutation SNP T T C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 49029916 49029916 T C SNP PLP2 ENST00000376322 human ensembl 74_37 +1 known missense c.431 p.I144T 0.002 NULL pfam_Marvel - no_errors PLP2 HGNC ENSG00000102007 tier1 - - 22 0 0.00 15 4 21.05 PRDM9 0 genome.wustl.edu 37 5 23521169 23521169 + Nonsense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 23521169 23521169 T A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known nonsense c.389 p.L130* 0.001 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 69 0 0.00 37 17 31.48 PRKD3 0 genome.wustl.edu 37 2 37509738 37509738 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 37509738 37509738 C T SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known missense c.935 p.R312H 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 tier1 - - 90 0 0.00 86 6 6.52 PRRC2A 0 genome.wustl.edu 37 6 31604290 31604290 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 31604290 31604290 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.5839 p.R1947C 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 195 0 0.00 293 51 14.78 PTEN 0 genome.wustl.edu 37 10 89711882 89711882 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 10 89711882 89711882 C G SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.500 p.T167S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 tier1 - - 113 0 0.00 91 18 16.36 PTPN11 0 genome.wustl.edu 37 12 112892407 112892407 + Missense_Mutation SNP T T G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 112892407 112892407 T G SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.565 p.S189A 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,prints_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 tier1 rs79068130 - 57 0 0.00 53 4 7.02 PTPN11 0 genome.wustl.edu 37 12 112892433 112892433 + Nonsense_Mutation SNP T T G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 112892433 112892433 T G SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known nonsense c.591 p.Y197* 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,prints_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 tier1 rs76982592 - 52 0 0.00 55 6 9.84 PTPN11 0 genome.wustl.edu 37 12 112892458 112892458 + Silent SNP T T C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 112892458 112892458 T C SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known silent c.616 p.L206 0.000 pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 48 0 0.00 48 5 9.43 PZP 0 genome.wustl.edu 37 12 9302161 9302161 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 9302161 9302161 G C SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.4422 p.S1474R 0.929 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 tier1 - - 125 0 0.00 49 27 35.53 RP1L1 0 genome.wustl.edu 37 8 10465195 10465195 + Missense_Mutation SNP T T C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 8 10465195 10465195 T C SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.6413 p.E2138G 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 410 0 0.00 333 130 28.02 S1PR5 0 genome.wustl.edu 37 19 10624657 10624657 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 10624657 10624657 G A SNP S1PR5 ENST00000333430 human ensembl 74_37 -1 known missense c.1031 p.A344V 0.203 prints_EDG8_S1P_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 tier1 - - 31 0 0.00 16 10 38.46 SACS 0 genome.wustl.edu 37 13 23906217 23906217 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 13 23906217 23906217 C G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.11798 p.R3933T 0.999 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 131 0 0.00 101 31 23.48 SALL1 0 genome.wustl.edu 37 16 51174367 51174367 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 16 51174367 51174367 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.1766 p.G589D 0.267 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 80 0 0.00 25 18 41.86 SEC24C 0 genome.wustl.edu 37 10 75520604 75520604 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 10 75520604 75520604 C T SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known silent c.984 p.S328 0.996 NULL 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 SEC24C HGNC ENSG00000176986 tier1 - - 139 0 0.00 91 70 43.48 SELPLG 0 genome.wustl.edu 37 12 109017037 109017037 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 109017037 109017037 G A SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known silent c.1047 p.G349 0.837 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 tier1 - - 56 0 0.00 52 22 29.73 SLC16A11 0 genome.wustl.edu 37 17 6946019 6946019 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 6946019 6946019 C T SNP SLC16A11 ENST00000308009 human ensembl 74_37 -1 known missense c.482 p.R161H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 tier1 - - 8 0 0.00 4 7 63.64 SLIT2 0 genome.wustl.edu 37 4 20525447 20525447 + Missense_Mutation SNP A A C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 4 20525447 20525447 A C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1195 p.N399H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 120 0 0.00 90 27 23.08 SLIT2 0 genome.wustl.edu 37 4 20525485 20525485 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 4 20525485 20525485 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.1233 p.I411 0.923 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 rs145340436 - 136 0 0.00 113 42 27.10 SMCHD1 0 genome.wustl.edu 37 18 2728671 2728671 + RNA SNP A A C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 18 2728671 2728671 A C SNP SMCHD1 ENST00000609587 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SMCHD1 HGNC ENSG00000101596 tier1 - - 32 0 0.00 32 12 27.27 SPATA17 0 genome.wustl.edu 37 1 217824481 217824481 + Silent SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 217824481 217824481 A G SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known silent c.201 p.R67 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 tier1 - - 76 0 0.00 73 15 16.85 SPATA31A6 0 genome.wustl.edu 37 9 43627261 43627261 + Missense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 9 43627261 43627261 G T SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1426 p.Q476K 0.003 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 - - 502 0 0.00 358 94 20.70 SPPL2C 0 genome.wustl.edu 37 17 43924067 43924067 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 43924067 43924067 G A SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.1795 p.D599N 0.390 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 tier1 - - 147 0 0.00 94 36 27.69 SREBF2 0 genome.wustl.edu 37 22 42290837 42290837 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 22 42290837 42290837 G A SNP SREBF2 ENST00000361204 human ensembl 74_37 +1 known silent c.2391 p.A797 0.627 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 tier1 - - 218 0 0.00 170 9 5.00 ST3GAL1 0 genome.wustl.edu 37 8 134488026 134488026 + Missense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 8 134488026 134488026 G T SNP ST3GAL1 ENST00000319914 human ensembl 74_37 -1 known missense c.242 p.T81N 0.998 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 tier1 - - 36 0 0.00 27 14 34.15 STAG1 0 genome.wustl.edu 37 3 136096564 136096564 + Missense_Mutation SNP T T C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 3 136096564 136096564 T C SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.2308 p.K770E 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 tier1 - - 83 0 0.00 66 25 27.47 STX12 0 genome.wustl.edu 37 1 28146221 28146222 + Frame_Shift_Ins INS - - A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 28146221 28146222 - A INS STX12 ENST00000373943 human ensembl 74_37 +1 known frame_shift_ins c.710_711 p.Q238fs 1.000:0.997 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX12 HGNC ENSG00000117758 tier1 41 0 0.00 31 15 32.61 SVEP1 0 genome.wustl.edu 37 9 113168658 113168658 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 9 113168658 113168658 G C SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.9222 p.F3074L 0.337 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 - - 133 0 0.00 122 40 24.69 TBC1D29 0 genome.wustl.edu 37 17 28890301 28890301 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 28890301 28890301 G A SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known missense c.311 p.S104N 0.904 NULL superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 tier1 rs80145926 - 35 0 0.00 38 8 17.39 TBR1 0 genome.wustl.edu 37 2 162280269 162280269 + Frame_Shift_Del DEL A A - TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 162280269 162280269 A - DEL TBR1 ENST00000389554 human ensembl 74_37 +1 known frame_shift_del c.1580 p.Q527fs 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 tier1 9 0 0.00 4 2 33.33 TCEA3 0 genome.wustl.edu 37 1 23724340 23724340 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 23724340 23724340 C T SNP TCEA3 ENST00000450454 human ensembl 74_37 -1 known silent c.552 p.G184 0.997 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA3 HGNC ENSG00000204219 tier1 - - 81 0 0.00 58 23 28.40 TEX19 0 genome.wustl.edu 37 17 80320393 80320393 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 80320393 80320393 G A SNP TEX19 ENST00000333437 human ensembl 74_37 +1 known missense c.367 p.E123K 0.999 NULL NULL - no_errors TEX19 HGNC ENSG00000182459 tier1 - - 207 0 0.00 209 57 21.43 TOMM40L 0 genome.wustl.edu 37 1 161199442 161199442 + RNA SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 161199442 161199442 G A SNP TOMM40L ENST00000474486 human ensembl 74_37 +1 known rna NULL NULL 0.927 - - - no_errors TOMM40L HGNC ENSG00000158882 tier1 - - 40 0 0.00 42 4 8.70 TPH2 0 genome.wustl.edu 37 12 72416245 72416245 + Nonsense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 72416245 72416245 G T SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known nonsense c.1135 p.G379* 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 tier1 - - 76 0 0.00 162 40 19.80 TPSAB1 0 genome.wustl.edu 37 16 1292145 1292145 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 16 1292145 1292145 G C SNP TPSAB1 ENST00000338844 human ensembl 74_37 +1 known missense c.732 p.W244C 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 tier1 - - 47 0 0.00 46 11 19.30 TPTE 0 genome.wustl.edu 37 21 10934988 10934988 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 21 10934988 10934988 G A SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.805 p.R269W 0.914 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 rs141045272 - 120 0 0.00 108 20 15.62 TRAF3IP3 0 genome.wustl.edu 37 1 209955414 209955414 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 209955414 209955414 G A SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known missense c.1577 p.R526Q 0.004 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 tier1 - - 95 0 0.00 83 13 13.40 TRIM49 0 genome.wustl.edu 37 11 89531652 89531652 + Silent SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 89531652 89531652 A T SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known silent c.1005 p.T335 0.505 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 tier1 - - 62 0 0.00 33 17 34.00 TRPC4 0 genome.wustl.edu 37 13 38357279 38357279 + Silent SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 13 38357279 38357279 A G SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known silent c.192 p.N64 0.998 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 tier1 - - 111 0 0.00 79 26 24.76 TTC37 0 genome.wustl.edu 37 5 94852652 94852652 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 94852652 94852652 C T SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.2404 p.D802N 0.984 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 tier1 - - 22 0 0.00 15 9 37.50 TTLL7 0 genome.wustl.edu 37 1 84386949 84386949 + Missense_Mutation SNP T T G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 84386949 84386949 T G SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.1271 p.E424A 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 tier1 - - 75 0 0.00 68 13 16.05 TUBE1 0 genome.wustl.edu 37 6 112392631 112392631 + Missense_Mutation SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 112392631 112392631 A G SNP TUBE1 ENST00000368662 human ensembl 74_37 -1 known missense c.1412 p.L471P 0.999 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 tier1 - - 151 0 0.00 118 59 33.33 UBQLNL 0 genome.wustl.edu 37 11 5537060 5537060 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 5537060 5537060 C G SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.612 p.L204F 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 tier1 - - 191 0 0.00 125 15 10.71 UHRF1 0 genome.wustl.edu 37 19 4954800 4954800 + RNA SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 4954800 4954800 G A SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors UHRF1 HGNC ENSG00000034063 tier1 - - 113 0 0.00 75 25 25.00 UTRN 0 genome.wustl.edu 37 6 145075901 145075901 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 145075901 145075901 G C SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.8401 p.D2801H 1.000 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,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 UTRN HGNC ENSG00000152818 tier1 - - 88 0 0.00 66 14 17.50 VBP1 0 genome.wustl.edu 37 X 154467130 154467130 + RNA SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 154467130 154467130 C G SNP VBP1 ENST00000459836 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors VBP1 HGNC ENSG00000155959 tier1 - - 160 0 0.00 111 36 24.32 ZKSCAN1 0 genome.wustl.edu 37 7 99621085 99621085 + Splice_Site SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 7 99621085 99621085 G C SNP ZKSCAN1 ENST00000426572 human ensembl 74_37 +1 putative splice_site c.1+1 e0+1 0.001 - - - no_errors ZKSCAN1 HGNC ENSG00000106261 tier1 - - 87 0 0.00 61 12 16.44 ZNF321P 0 genome.wustl.edu 37 19 53432662 53432662 + Missense_Mutation SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 53432662 53432662 A T SNP ZNF321P ENST00000391777 human ensembl 74_37 -1 known missense c.196 p.S66T 0.295 superfamily_Krueppel-associated_box,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 ZNF321P HGNC ENSG00000221874 tier1 - - 107 0 0.00 85 29 25.44 ZNF33A 0 genome.wustl.edu 37 10 38343351 38343351 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 10 38343351 38343351 C G SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.317 p.S106C 0.926 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 ZNF33A HGNC ENSG00000189180 tier1 - - 84 0 0.00 65 6 8.45 ZNF417 0 genome.wustl.edu 37 19 58420923 58420923 + Silent SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 58420923 58420923 C G SNP ZNF417 ENST00000312026 human ensembl 74_37 -1 known silent c.723 p.V241 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF417 HGNC ENSG00000173480 tier1 - - 67 0 0.00 44 13 22.81 ZNF419 0 genome.wustl.edu 37 19 58005073 58005073 + Missense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 58005073 58005073 G T SNP ZNF419 ENST00000424930 human ensembl 74_37 +1 known missense c.1151 p.C384F 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF419 HGNC ENSG00000105136 tier1 - - 130 0 0.00 110 23 17.29 ZNF670 0 genome.wustl.edu 37 1 247201663 247201663 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 247201663 247201663 C T SNP ZNF670 ENST00000366503 human ensembl 74_37 -1 known silent c.258 p.Q86 0.014 pfscan_Krueppel-associated_box 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 ZNF670 HGNC ENSG00000135747 tier1 - - 135 0 0.00 77 43 35.83 ZNF92 0 genome.wustl.edu 37 7 64863782 64863782 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 7 64863782 64863782 C T SNP ZNF92 ENST00000328747 human ensembl 74_37 +1 known missense c.755 p.T252I 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 tier1 - - 58 0 0.00 27 8 22.86 NBPF10 0 genome.wustl.edu 37 1 145303942 145303942 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 145303942 145303942 G A SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.1339 p.V447I 0.003 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 225 0 0 185 42 18.5022 NES 0 genome.wustl.edu 37 1 156641841 156641841 + Silent SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 156641841 156641841 A T SNP NES ENST00000368223 human ensembl 74_37 -1 known silent c.2139 p.S713 0.000 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 76 0 0 63 32 33.6842 MR1 0 genome.wustl.edu 37 1 181003196 181003196 + Missense_Mutation SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 181003196 181003196 A G SNP MR1 ENST00000367580 human ensembl 74_37 +1 known missense c.53 p.K18R 0.021 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors MR1 HGNC ENSG00000153029 58 0 0 40 3 6.97674 LAMC1 0 genome.wustl.edu 37 1 183085791 183085791 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 183085791 183085791 G A SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.1408 p.E470K 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 98 0 0 81 6 6.89655 TRAF3IP3 0 genome.wustl.edu 37 1 209955414 209955414 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 209955414 209955414 G A SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known missense c.1577 p.R526Q 0.004 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 80 0 0 69 11 13.75 IRF6 0 genome.wustl.edu 37 1 209961959 209961959 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 209961959 209961959 C T SNP IRF6 ENST00000367021 human ensembl 74_37 -1 known missense c.1210 p.E404K 0.999 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 56 0 0 29 19 39.5833 SPATA17 0 genome.wustl.edu 37 1 217824481 217824481 + Silent SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 217824481 217824481 A G SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known silent c.201 p.R67 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 56 0 0 57 10 14.9254 HHIPL2 0 genome.wustl.edu 37 1 222717244 222717244 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 222717244 222717244 G A SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known silent c.609 p.G203 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 75 0 0 46 22 32.3529 TCEA3 0 genome.wustl.edu 37 1 23724340 23724340 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 23724340 23724340 C T SNP TCEA3 ENST00000450454 human ensembl 74_37 -1 known silent c.552 p.G184 0.997 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA3 HGNC ENSG00000204219 70 0 0 49 21 30 ZNF670 0 genome.wustl.edu 37 1 247201663 247201663 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 247201663 247201663 C T SNP ZNF670 ENST00000366503 human ensembl 74_37 -1 known silent c.258 p.Q86 0.014 pfscan_Krueppel-associated_box 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 ZNF670 HGNC ENSG00000135747 129 0 0 75 42 35.8974 HEYL 0 genome.wustl.edu 37 1 40092770 40092770 + Silent SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 40092770 40092770 C A SNP HEYL ENST00000372852 human ensembl 74_37 -1 known silent c.396 p.L132 1.000 pfam_Orange,smart_Orange_subgr,pfscan_Orange pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HEYL HGNC ENSG00000163909 75 0 0 54 17 23.9437 HIVEP3 0 genome.wustl.edu 37 1 42050238 42050238 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 42050238 42050238 C A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.231 p.Q77H 0.791 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 265 0 0 192 133 40.9231 FAM151A 0 genome.wustl.edu 37 1 55075100 55075100 + Silent SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 55075100 55075100 G T SNP FAM151A ENST00000302250 human ensembl 74_37 -1 known silent c.1599 p.P533 0.559 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 118 0 0 82 33 28.6957 TTLL7 0 genome.wustl.edu 37 1 84386949 84386949 + Missense_Mutation SNP T T G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 84386949 84386949 T G SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.1271 p.E424A 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 67 0 0 55 12 17.9104 GBP3 0 genome.wustl.edu 37 1 89486355 89486355 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 89486355 89486355 G C SNP GBP3 ENST00000370481 human ensembl 74_37 -1 known missense c.50 p.T17S 0.005 superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP3 HGNC ENSG00000117226 107 0 0 83 30 26.5487 C10orf76 0 genome.wustl.edu 37 10 103793096 103793096 + Missense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 10 103793096 103793096 T A SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.103 p.T35S 1.000 NULL pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 75 0 0 44 14 24.1379 ZNF33A 0 genome.wustl.edu 37 10 38343351 38343351 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 10 38343351 38343351 C G SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.317 p.S106C 0.926 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 ZNF33A HGNC ENSG00000189180 80 0 0 60 6 9.09091 SEC24C 0 genome.wustl.edu 37 10 75520604 75520604 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 10 75520604 75520604 C T SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known silent c.984 p.S328 0.996 NULL 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 SEC24C HGNC ENSG00000176986 127 0 0 84 65 43.6242 CAMK2G 0 genome.wustl.edu 37 10 75608870 75608870 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 10 75608870 75608870 C T SNP CAMK2G ENST00000423381 human ensembl 74_37 -1 known missense c.418 p.E140K 1.000 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 pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2G HGNC ENSG00000148660 68 0 0 101 20 16.5289 LARP4B 0 genome.wustl.edu 37 10 860754 860754 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 10 860754 860754 G C SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known missense c.1857 p.H619Q 0.072 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 17 0 0 20 4 16.6667 PTEN 0 genome.wustl.edu 37 10 89711882 89711882 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 10 89711882 89711882 C G SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.500 p.T167S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 101 0 0 81 16 16.4948 MUC6 0 genome.wustl.edu 37 11 1016179 1016179 + Missense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 1016179 1016179 T A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.6622 p.I2208F 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,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 MUC6 HGNC ENSG00000184956 40 0 0 18 9 33.3333 DDX25 0 genome.wustl.edu 37 11 125780346 125780346 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 125780346 125780346 G C SNP DDX25 ENST00000263576 human ensembl 74_37 +1 known missense c.595 p.V199L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX25 HGNC ENSG00000109832 83 0 0 59 24 28.9157 PIK3C2A 0 genome.wustl.edu 37 11 17170212 17170212 + Splice_Site SNP A A C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 17170212 17170212 A C SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known splice_site c.1448+2 e4+2 1.000 - - - no_errors PIK3C2A HGNC ENSG00000011405 29 0 0 27 13 32.5 PACSIN3 0 genome.wustl.edu 37 11 47202174 47202174 + Silent SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 47202174 47202174 C G SNP PACSIN3 ENST00000298838 human ensembl 74_37 -1 known silent c.279 p.A93 0.666 pfam_FCH_dom,smart_FCH_dom pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 62 0 0 57 22 27.8481 OR52D1 0 genome.wustl.edu 37 11 5510460 5510460 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 5510460 5510460 G A SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known missense c.524 p.R175H 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 271 1 0.367647 188 13 6.46766 UBQLNL 0 genome.wustl.edu 37 11 5537060 5537060 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 5537060 5537060 C G SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.612 p.L204F 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 178 0 0 108 14 11.4754 OR5D13 0 genome.wustl.edu 37 11 55540935 55540935 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 55540935 55540935 C A SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.22 p.Q8K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 138 0 0 95 23 19.4915 OR52B6 0 genome.wustl.edu 37 11 5603050 5603050 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 5603050 5603050 G A SNP OR52B6 ENST00000345043 human ensembl 74_37 +1 known missense c.944 p.R315K 0.859 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B6 HGNC ENSG00000187747 136 0 0 76 11 12.6437 OR8U1 0 genome.wustl.edu 37 11 56143410 56143410 + Missense_Mutation SNP T T G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 56143410 56143410 T G SNP OR8U1 ENST00000302270 human ensembl 74_37 +1 known missense c.311 p.F104C 0.086 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 144 0 0 84 42 33.3333 FCHSD2 0 genome.wustl.edu 37 11 72554209 72554209 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 72554209 72554209 G A SNP FCHSD2 ENST00000409418 human ensembl 74_37 -1 known silent c.1692 p.N564 0.990 NULL pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 39 0 0 28 7 20 TRIM49 0 genome.wustl.edu 37 11 89531652 89531652 + Silent SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 11 89531652 89531652 A T SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known silent c.1005 p.T335 0.505 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 62 0 0 33 17 34 STAB2 0 genome.wustl.edu 37 12 104099463 104099463 + Silent SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 104099463 104099463 C A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known silent c.3954 p.T1318 0.001 superfamily_Growth_fac_rcpt_N_dom 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 66 0 0 72 4 5.26316 C12orf23 0 genome.wustl.edu 37 12 107360887 107360887 + Splice_Site SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 107360887 107360887 A T SNP C12orf23 ENST00000280756 human ensembl 74_37 +1 known splice_site c.1-2 e1-2 0.983 - - - no_errors C12orf23 HGNC ENSG00000151135 46 0 0 44 3 6.38298 SELPLG 0 genome.wustl.edu 37 12 109017037 109017037 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 109017037 109017037 G A SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known silent c.1047 p.G349 0.837 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 50 0 0 48 18 27.2727 BICD1 0 genome.wustl.edu 37 12 32458846 32458846 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 32458846 32458846 C T SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known silent c.795 p.I265 0.997 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 33 0 0 239 21 8.07692 PDZRN4 0 genome.wustl.edu 37 12 41967633 41967633 + Missense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 41967633 41967633 G T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.3052 p.A1018S 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 51 0 0 64 7 9.85915 KMT2D 0 genome.wustl.edu 37 12 49427330 49427330 + Nonsense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 49427330 49427330 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.11158 p.Q3720* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 63 0 0 79 14 15.0538 TPH2 0 genome.wustl.edu 37 12 72416245 72416245 + Nonsense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 72416245 72416245 G T SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known nonsense c.1135 p.G379* 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 62 0 0 133 35 20.8333 PZP 0 genome.wustl.edu 37 12 9302161 9302161 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 12 9302161 9302161 G C SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.4422 p.S1474R 0.929 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 103 0 0 38 23 37.7049 SACS 0 genome.wustl.edu 37 13 23906217 23906217 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 13 23906217 23906217 C G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.11798 p.R3933T 0.999 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 120 0 0 92 28 23.3333 TRPC4 0 genome.wustl.edu 37 13 38357279 38357279 + Silent SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 13 38357279 38357279 A G SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known silent c.192 p.N64 0.998 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 106 0 0 77 25 24.5098 PCDH9 0 genome.wustl.edu 37 13 67801360 67801360 + Silent SNP T T G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 13 67801360 67801360 T G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.1213 p.R405 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 103 0 0 56 23 29.1139 MYO5A 0 genome.wustl.edu 37 15 52689432 52689432 + Missense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 15 52689432 52689432 G T SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.1285 p.Q429K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 66 0 0 51 24 32 DPP8 0 genome.wustl.edu 37 15 65790304 65790304 + Missense_Mutation SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 15 65790304 65790304 A T SNP DPP8 ENST00000341861 human ensembl 74_37 -1 known missense c.661 p.C221S 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 94 0 0 75 21 21.875 LOC283693 0 genome.wustl.edu 37 15 83395038 83395038 + RNA SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 15 83395038 83395038 A T SNP LOC283693 ENST00000560958 human ensembl 74_37 -1 known rna NULL NULL 0.222 - - - no_errors RP11-752G15.9 Clone_based_vega_gene ENSG00000259315 15 0 0 8 7 46.6667 METTL9 0 genome.wustl.edu 37 16 21624099 21624099 + Missense_Mutation SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 16 21624099 21624099 A G SNP METTL9 ENST00000358154 human ensembl 74_37 +1 known missense c.299 p.Y100C 1.000 pfam_DREV_MeTrfase pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11 - no_errors METTL9 HGNC ENSG00000197006 64 0 0 51 23 31.0811 E4F1 0 genome.wustl.edu 37 16 2282899 2282899 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 16 2282899 2282899 C T SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known silent c.873 p.D291 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 72 0 0 38 17 30.9091 SALL1 0 genome.wustl.edu 37 16 51174367 51174367 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 16 51174367 51174367 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.1766 p.G589D 0.267 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 66 0 0 24 16 40 CNTNAP4 0 genome.wustl.edu 37 16 76481974 76481974 + Missense_Mutation SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 16 76481974 76481974 A G SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.601 p.S201G 0.986 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 60 0 0 26 14 35 CDH13 0 genome.wustl.edu 37 16 83065695 83065695 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 16 83065695 83065695 G A SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.238 p.G80S 0.000 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 20 0 0 10 6 37.5 MYH4 0 genome.wustl.edu 37 17 10367836 10367836 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 10367836 10367836 C A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.601 p.V201F 0.983 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,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 44 0 0 42 17 28.8136 MYO15A 0 genome.wustl.edu 37 17 18051478 18051478 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 18051478 18051478 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.6645 p.A2215 0.844 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 87 0 0 86 84 49.4118 PHF12 0 genome.wustl.edu 37 17 27237293 27237293 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 27237293 27237293 C T SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known silent c.2310 p.P770 0.082 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 87 0 0 71 30 29.703 SPPL2C 0 genome.wustl.edu 37 17 43924067 43924067 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 43924067 43924067 G A SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.1795 p.D599N 0.390 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 118 0 0 78 31 28.4404 CUEDC1 0 genome.wustl.edu 37 17 55962641 55962641 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 55962641 55962641 G A SNP CUEDC1 ENST00000360238 human ensembl 74_37 -1 known silent c.285 p.S95 0.663 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors CUEDC1 HGNC ENSG00000180891 102 0 0 76 27 26.2136 C17orf82 0 genome.wustl.edu 37 17 59489996 59489996 + Silent SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 59489996 59489996 G T SNP C17orf82 ENST00000335108 human ensembl 74_37 +1 known silent c.660 p.G220 0.000 NULL NULL - no_errors C17orf82 HGNC ENSG00000187013 10 0 0 11 5 31.25 CCDC47 0 genome.wustl.edu 37 17 61833661 61833661 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 61833661 61833661 G A SNP CCDC47 ENST00000225726 human ensembl 74_37 -1 known missense c.887 p.P296L 1.000 pfam_DUF1682 pfam_DUF1682 - no_errors CCDC47 HGNC ENSG00000108588 65 0 0 57 26 31.3253 SLC16A11 0 genome.wustl.edu 37 17 6946019 6946019 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 6946019 6946019 C T SNP SLC16A11 ENST00000308009 human ensembl 74_37 -1 known missense c.482 p.R161H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 8 0 0 4 6 60 P4HB 0 genome.wustl.edu 37 17 79813048 79813048 + Silent SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 79813048 79813048 G C SNP P4HB ENST00000331483 human ensembl 74_37 -1 known silent c.594 p.L198 0.025 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 293 0 0 206 75 26.6904 TEX19 0 genome.wustl.edu 37 17 80320393 80320393 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 80320393 80320393 G A SNP TEX19 ENST00000333437 human ensembl 74_37 +1 known missense c.367 p.E123K 0.999 NULL NULL - no_errors TEX19 HGNC ENSG00000182459 178 0 0 176 48 21.4286 HEXDC 0 genome.wustl.edu 37 17 80399097 80399097 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 17 80399097 80399097 G A SNP HEXDC ENST00000337014 human ensembl 74_37 +1 known missense c.1207 p.A403T 1.000 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 143 0 0 96 29 23.2 DSG3 0 genome.wustl.edu 37 18 29055855 29055855 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 18 29055855 29055855 G A SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.2632 p.G878S 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 112 0 0 114 9 7.31707 COLEC12 0 genome.wustl.edu 37 18 346722 346722 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 18 346722 346722 G A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known silent c.900 p.I300 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 78 0 0 64 64 50 S1PR5 0 genome.wustl.edu 37 19 10624657 10624657 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 10624657 10624657 G A SNP S1PR5 ENST00000333430 human ensembl 74_37 -1 known missense c.1031 p.A344V 0.203 prints_EDG8_S1P_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 31 0 0 16 10 38.4615 GDF15 0 genome.wustl.edu 37 19 18499410 18499410 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 18499410 18499410 C G SNP GDF15 ENST00000252809 human ensembl 74_37 +1 known missense c.592 p.R198G 0.356 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF15 HGNC ENSG00000130513 27 0 0 22 7 24.1379 UHRF1 0 genome.wustl.edu 37 19 4954800 4954800 + RNA SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 4954800 4954800 G A SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors UHRF1 HGNC ENSG00000034063 95 0 0 61 21 25.6098 ZNF321P 0 genome.wustl.edu 37 19 53432662 53432662 + Missense_Mutation SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 53432662 53432662 A T SNP ZNF321P ENST00000391777 human ensembl 74_37 -1 known missense c.196 p.S66T 0.295 superfamily_Krueppel-associated_box,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 ZNF321P HGNC ENSG00000221874 98 0 0 77 27 25.9615 ZNF419 0 genome.wustl.edu 37 19 58005073 58005073 + Missense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 58005073 58005073 G T SNP ZNF419 ENST00000424930 human ensembl 74_37 +1 known missense c.1151 p.C384F 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF419 HGNC ENSG00000105136 117 0 0 99 20 16.8067 ZNF8 0 genome.wustl.edu 37 19 58805586 58805586 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 58805586 58805586 G C SNP ZNF8 ENST00000196548 human ensembl 74_37 +1 known missense c.412 p.G138R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 Uniprot_gn ENSG00000083842 34 0 0 47 4 7.84314 MUC16 0 genome.wustl.edu 37 19 9046510 9046510 + Missense_Mutation SNP A A C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 19 9046510 9046510 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.35121 p.S11707R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 139 0 0 114 8 6.55738 GORASP2 0 genome.wustl.edu 37 2 171806765 171806765 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 171806765 171806765 G A SNP GORASP2 ENST00000452526 human ensembl 74_37 +1 known missense c.436 p.D146N 1.000 pfam_GRASP55/65_PDZ,superfamily_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP2 HGNC ENSG00000115806 52 0 0 55 14 20.2899 AGAP1 0 genome.wustl.edu 37 2 236659111 236659111 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 236659111 236659111 G A SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.652 p.V218M 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 147 0 0 89 33 27.0492 ANO7 0 genome.wustl.edu 37 2 242155593 242155593 + Missense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 242155593 242155593 T A SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.2074 p.W692R 0.992 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 44 0 0 59 16 21.3333 PRKD3 0 genome.wustl.edu 37 2 37509738 37509738 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 37509738 37509738 C T SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known missense c.935 p.R312H 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 73 0 0 64 6 8.57143 NRXN1 0 genome.wustl.edu 37 2 51254965 51254965 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 51254965 51254965 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.447 p.V149 0.994 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 53 0 0 30 14 31.8182 EHBP1 0 genome.wustl.edu 37 2 63182694 63182694 + Missense_Mutation SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 63182694 63182694 A G SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.2464 p.R822G 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 26 0 0 27 10 27.027 GFPT1 0 genome.wustl.edu 37 2 69565670 69565670 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 2 69565670 69565670 C G SNP GFPT1 ENST00000357308 human ensembl 74_37 -1 known missense c.1231 p.E411Q 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 61 0 0 58 6 9.375 NINL 0 genome.wustl.edu 37 20 25456684 25456684 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 20 25456684 25456684 G A SNP NINL ENST00000278886 human ensembl 74_37 -1 known silent c.3243 p.N1081 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 111 0 0 101 7 6.48148 VPS16 0 genome.wustl.edu 37 20 2841502 2841502 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 20 2841502 2841502 C G SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known missense c.623 p.S208C 0.996 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 68 0 0 51 3 5.55556 CHD6 0 genome.wustl.edu 37 20 40050378 40050378 + Missense_Mutation SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 20 40050378 40050378 A G SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.4897 p.Y1633H 0.997 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 50 0 0 70 12 14.6341 L3MBTL1 0 genome.wustl.edu 37 20 42143771 42143771 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 20 42143771 42143771 G A SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known missense c.559 p.D187N 0.007 NULL pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 116 0 0 101 9 8.18182 FAM209B 0 genome.wustl.edu 37 20 55108405 55108405 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 20 55108405 55108405 C T SNP FAM209B ENST00000371325 human ensembl 74_37 +1 known missense c.8 p.T3M 0.256 NULL NULL - no_errors FAM209B HGNC ENSG00000213714 163 0 0 112 45 28.6624 COL9A3 0 genome.wustl.edu 37 20 61460839 61460839 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 20 61460839 61460839 G A SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known silent c.1041 p.E347 1.000 NULL pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 57 0 0 49 12 19.6721 DGCR14 0 genome.wustl.edu 37 22 19127524 19127524 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 22 19127524 19127524 C G SNP DGCR14 ENST00000252137 human ensembl 74_37 -1 known missense c.414 p.E138D 0.995 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 151 0 0 59 34 36.5591 MOV10L1 0 genome.wustl.edu 37 22 50553554 50553554 + Missense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 22 50553554 50553554 T A SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known missense c.1138 p.C380S 0.000 NULL superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 113 0 0 40 34 45.9459 STAG1 0 genome.wustl.edu 37 3 136096564 136096564 + Missense_Mutation SNP T T C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 3 136096564 136096564 T C SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.2308 p.K770E 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 67 0 0 50 22 30.5556 DENND6A 0 genome.wustl.edu 37 3 57632109 57632109 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 3 57632109 57632109 C A SNP DENND6A ENST00000311128 human ensembl 74_37 -1 known missense c.875 p.G292V 1.000 pfam_Afi1_N,pfam_DENN_dom pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 48 0 0 53 5 8.62069 FLNB 0 genome.wustl.edu 37 3 58139200 58139200 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 3 58139200 58139200 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.6466 p.R2156W 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 101 0 0 88 33 27.2727 MARCH1 0 genome.wustl.edu 37 4 164534501 164534501 + Missense_Mutation SNP C C G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 4 164534501 164534501 C G SNP MARCH1 ENST00000274056 human ensembl 74_37 -1 known missense c.207 p.R69S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH1 HGNC ENSG00000145416 84 0 0 43 23 34.8485 SLIT2 0 genome.wustl.edu 37 4 20525447 20525447 + Missense_Mutation SNP A A C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 4 20525447 20525447 A C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1195 p.N399H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 108 0 0 84 24 22.2222 SLIT2 0 genome.wustl.edu 37 4 20525485 20525485 + Silent SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 4 20525485 20525485 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.1233 p.I411 0.923 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 117 0 0 100 37 27.0073 ADAMTS3 0 genome.wustl.edu 37 4 73154516 73154516 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 4 73154516 73154516 C T SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.3001 p.G1001S 0.994 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 45 0 0 53 6 10.1695 AFM 0 genome.wustl.edu 37 4 74364921 74364921 + Silent SNP T T C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 4 74364921 74364921 T C SNP AFM ENST00000226355 human ensembl 74_37 +1 known silent c.1380 p.T460 0.234 pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 63 0 0 71 4 5.33333 DMXL1 0 genome.wustl.edu 37 5 118485816 118485816 + Missense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 118485816 118485816 T A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.4294 p.L1432I 0.220 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 83 0 0 30 22 42.3077 PRDM9 0 genome.wustl.edu 37 5 23521169 23521169 + Nonsense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 23521169 23521169 T A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known nonsense c.389 p.L130* 0.001 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 64 0 0 34 16 32 GHR 0 genome.wustl.edu 37 5 42718570 42718570 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 42718570 42718570 G A SNP GHR ENST00000230882 human ensembl 74_37 +1 known missense c.961 p.E321K 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 181 0 0 161 12 6.93642 ACTBL2 0 genome.wustl.edu 37 5 56777908 56777908 + Silent SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 56777908 56777908 A G SNP ACTBL2 ENST00000423391 human ensembl 74_37 -1 known silent c.627 p.I209 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 81 0 0 78 26 25 DEPDC1B 0 genome.wustl.edu 37 5 59940671 59940671 + Nonsense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 59940671 59940671 C A SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known nonsense c.610 p.E204* 1.000 pfscan_RhoGAP_dom pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 42 0 0 29 10 25.641 GFM2 0 genome.wustl.edu 37 5 74026094 74026094 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 74026094 74026094 G A SNP GFM2 ENST00000296805 human ensembl 74_37 -1 known missense c.1717 p.R573C 0.005 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_EFG_III-V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors GFM2 HGNC ENSG00000164347 47 0 0 42 6 12.5 TTC37 0 genome.wustl.edu 37 5 94852652 94852652 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 5 94852652 94852652 C T SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.2404 p.D802N 0.984 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 22 0 0 15 9 37.5 TUBE1 0 genome.wustl.edu 37 6 112392631 112392631 + Missense_Mutation SNP A A G TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 112392631 112392631 A G SNP TUBE1 ENST00000368662 human ensembl 74_37 -1 known missense c.1412 p.L471P 0.999 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 130 0 0 100 50 33.3333 MED23 0 genome.wustl.edu 37 6 131917212 131917212 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 131917212 131917212 C A SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.2888 p.G963V 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 114 0 0 104 15 12.605 UTRN 0 genome.wustl.edu 37 6 145075901 145075901 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 145075901 145075901 G C SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.8401 p.D2801H 1.000 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,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 UTRN HGNC ENSG00000152818 79 0 0 56 12 17.6471 PRRC2A 0 genome.wustl.edu 37 6 31604290 31604290 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 31604290 31604290 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.5839 p.R1947C 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 171 0 0 260 45 14.7541 EHMT2 0 genome.wustl.edu 37 6 31864396 31864396 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 31864396 31864396 G A SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known silent c.486 p.G162 0.505 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 144 0 0 221 57 20.5036 PKHD1 0 genome.wustl.edu 37 6 51889383 51889383 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 51889383 51889383 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.5225 p.T1742M 0.000 superfamily_Ig_E-set pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 104 1 0.952381 85 24 22.0183 MDN1 0 genome.wustl.edu 37 6 90494814 90494814 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 6 90494814 90494814 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.1366 p.P456S 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 187 0 0 107 16 13.0081 ABCA13 0 genome.wustl.edu 37 7 48314183 48314183 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 7 48314183 48314183 C A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.4920 p.N1640K 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 150 1 0.662252 102 31 23.3083 ZNF92 0 genome.wustl.edu 37 7 64863782 64863782 + Missense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 7 64863782 64863782 C T SNP ZNF92 ENST00000328747 human ensembl 74_37 +1 known missense c.755 p.T252I 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 54 0 0 24 7 22.5806 ZKSCAN1 0 genome.wustl.edu 37 7 99621085 99621085 + Splice_Site SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 7 99621085 99621085 G C SNP ZKSCAN1 ENST00000426572 human ensembl 74_37 +1 putative splice_site c.1+1 e0+1 0.001 - - - no_errors ZKSCAN1 HGNC ENSG00000106261 79 0 0 54 12 18.1818 RP1L1 0 genome.wustl.edu 37 8 10465195 10465195 + Missense_Mutation SNP T T C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 8 10465195 10465195 T C SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.6413 p.E2138G 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 368 0 0 298 112 27.3171 ST3GAL1 0 genome.wustl.edu 37 8 134488026 134488026 + Missense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 8 134488026 134488026 G T SNP ST3GAL1 ENST00000319914 human ensembl 74_37 -1 known missense c.242 p.T81N 0.998 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 35 0 0 24 12 33.3333 CNOT7 0 genome.wustl.edu 37 8 17102642 17102642 + Missense_Mutation SNP T T C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 8 17102642 17102642 T C SNP CNOT7 ENST00000361272 human ensembl 74_37 -1 known missense c.20 p.D7G 1.000 NULL pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT7 HGNC ENSG00000198791 50 0 0 28 9 24.3243 CSMD1 0 genome.wustl.edu 37 8 3611558 3611558 + Silent SNP A A T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 8 3611558 3611558 A T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known silent c.825 p.T275 0.472 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 37 0 0 24 6 20 SVEP1 0 genome.wustl.edu 37 9 113168658 113168658 + Missense_Mutation SNP G G C TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 9 113168658 113168658 G C SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.9222 p.F3074L 0.337 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 127 0 0 115 37 24.3421 CERCAM 0 genome.wustl.edu 37 9 131186792 131186792 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 9 131186792 131186792 G A SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known missense c.665 p.R222Q 1.000 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 118 0 0 96 37 27.8195 IFNB1 0 genome.wustl.edu 37 9 21077518 21077518 + Silent SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 9 21077518 21077518 G A SNP IFNB1 ENST00000380232 human ensembl 74_37 -1 known silent c.351 p.N117 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNB1 HGNC ENSG00000171855 182 0 0 122 54 30.6818 SPATA31A6 0 genome.wustl.edu 37 9 43627261 43627261 + Missense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 9 43627261 43627261 G T SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1426 p.Q476K 0.003 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 484 0 0 339 92 21.3457 HCCS 0 genome.wustl.edu 37 X 11135397 11135397 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 11135397 11135397 C A SNP HCCS ENST00000321143 human ensembl 74_37 +1 known missense c.263 p.P88Q 1.000 pfam_Cyt_C/C1_haem_lyase pfam_Cyt_C/C1_haem_lyase - no_errors HCCS HGNC ENSG00000004961 139 0 0 96 31 24.4094 DOCK11 0 genome.wustl.edu 37 X 117796708 117796708 + Nonsense_Mutation SNP G G T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 117796708 117796708 G T SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known nonsense c.5029 p.G1677* 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 55 0 0 40 9 18.3673 NKAP 0 genome.wustl.edu 37 X 119064118 119064118 + Missense_Mutation SNP C C A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 119064118 119064118 C A SNP NKAP ENST00000371410 human ensembl 74_37 -1 known missense c.934 p.A312S 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 116 0 0 59 23 28.0488 ATP7A 0 genome.wustl.edu 37 X 77245413 77245413 + Missense_Mutation SNP G G A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 77245413 77245413 G A SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known missense c.1295 p.R432K 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 120 0 0 79 5 5.95238 CYLC1 0 genome.wustl.edu 37 X 83129190 83129190 + Missense_Mutation SNP T T A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 83129190 83129190 T A SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.1474 p.L492I 0.001 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 26 0 0 23 4 14.8148 CPXCR1 0 genome.wustl.edu 37 X 88008812 88008812 + Nonsense_Mutation SNP C C T TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 X 88008812 88008812 C T SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known nonsense c.397 p.R133* 0.004 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 41 0 0 30 4 11.7647 STX12 0 genome.wustl.edu 37 1 28146221 28146222 + Frame_Shift_Ins INS - - A TCGA-IN-A6RN-01A-12D-A33T-08 TCGA-IN-A6RN-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 013a1240-6c62-4f3d-b516-3d19065c82ce b6f3d5c9-331b-4f7e-b0fd-c064e39eaeb8 1 28146221 28146222 - A INS STX12 ENST00000373943 human ensembl 74_37 +1 known frame_shift_ins c.710_711 p.Q238fs 1.000:0.997 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX12 HGNC ENSG00000117758 40 0 0 32 14 30.4348