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 ABCA6 0 genome.wustl.edu 37 17 67079107 67079107 + Missense_Mutation SNP T T C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 67079107 67079107 T C SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.4523 p.Y1508C 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 tier1 - - 61 0 0.00 39 9 18.75 ABCA6 0 genome.wustl.edu 37 17 67081766 67081766 + Missense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 67081766 67081766 C A SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.4029 p.E1343D 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 23 0 0.00 52 4 7.14 ABCC1 0 genome.wustl.edu 37 16 16162052 16162052 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 16 16162052 16162052 G T SNP ABCC1 ENST00000399408 human ensembl 74_37 +1 known nonsense c.1717 p.E573* 0.011 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 47 0 0.00 29 2 6.45 ACADL 0 genome.wustl.edu 37 2 211082784 211082785 + Frame_Shift_Ins INS - - C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 211082784 211082785 - C INS ACADL ENST00000233710 human ensembl 74_37 -1 known frame_shift_ins c.276_275 p.A93fs 1.000:1.000 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADL HGNC ENSG00000115361 tier1 52 0 0.00 50 10 16.67 ACADL 0 genome.wustl.edu 37 2 211082785 211082785 + Missense_Mutation SNP T T C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 211082785 211082785 T C SNP ACADL ENST00000233710 human ensembl 74_37 -1 known missense c.275 p.K92R 1.000 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADL HGNC ENSG00000115361 51 0 0.00 56 3 5.08 ACSM5 0 genome.wustl.edu 37 16 20448395 20448395 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 16 20448395 20448395 G T SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known missense c.1330 p.A444S 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 tier1 - - 91 0 0.00 67 4 5.63 ADAMTS19 0 genome.wustl.edu 37 5 129037259 129037259 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 129037259 129037259 G A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.3115 p.V1039M 0.986 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 25 0 0.00 33 4 10.81 AKAP3 0 genome.wustl.edu 37 12 4737626 4737626 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 12 4737626 4737626 C T SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known missense c.442 p.D148N 0.397 smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 53 0 0.00 34 2 5.56 ANKRD20A1 0 genome.wustl.edu 37 9 67968379 67968379 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 9 67968379 67968379 G A SNP ANKRD20A1 ENST00000377477 human ensembl 74_37 +1 known missense c.1938 p.M646I 0.846 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A1 HGNC ENSG00000196774 tier1 - - 120 0 0.00 202 33 14.04 APOC3 0 genome.wustl.edu 37 11 116701311 116701311 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 116701311 116701311 G T SNP APOC3 ENST00000227667 human ensembl 74_37 +1 known missense c.13 p.V5L 0.067 pfam_Apo-CIII pfam_Apo-CIII - no_errors APOC3 HGNC ENSG00000110245 tier1 - - 72 0 0.00 56 4 6.67 ARHGAP15 0 genome.wustl.edu 37 2 144381722 144381722 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 144381722 144381722 G A SNP ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known missense c.1024 p.D342N 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 tier1 - - 68 0 0.00 47 16 25.40 ARHGAP36 0 genome.wustl.edu 37 X 130220591 130220591 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 X 130220591 130220591 G A SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known missense c.1438 p.A480T 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 tier1 - - 31 0 0.00 16 8 33.33 ARHGAP44 0 genome.wustl.edu 37 17 12823123 12823123 + Silent SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 12823123 12823123 C T SNP ARHGAP44 ENST00000379672 human ensembl 74_37 +1 known silent c.439 p.L147 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ENSG00000006740 tier1 - - 81 0 0.00 69 4 5.48 ATP6AP2 0 genome.wustl.edu 37 X 40448252 40448252 + Missense_Mutation SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 X 40448252 40448252 G C SNP ATP6AP2 ENST00000378438 human ensembl 74_37 +1 known missense c.52 p.E18Q 0.990 NULL pfam_Renin_rcpt - no_errors ATP6AP2 HGNC ENSG00000182220 tier1 - - 21 0 0.00 27 11 28.95 ATXN2 0 genome.wustl.edu 37 12 111957639 111957639 + RNA SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 12 111957639 111957639 G C SNP ATXN2 ENST00000481331 human ensembl 74_37 -1 known rna NULL NULL 0.671 - - - no_errors ATXN2 HGNC ENSG00000204842 tier1 - - 33 0 0.00 25 7 21.88 AUH 0 genome.wustl.edu 37 9 93976300 93976300 + RNA SNP T T C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 9 93976300 93976300 T C SNP AUH ENST00000473695 human ensembl 74_37 -1 known rna NULL NULL 0.926 - - - no_errors AUH HGNC ENSG00000148090 tier1 - - 51 0 0.00 87 22 20.18 BAI3 0 genome.wustl.edu 37 6 69646560 69646560 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 69646560 69646560 G T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1018 p.A340S 1.000 pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 56 0 0.00 43 7 14.00 BOD1L1 0 genome.wustl.edu 37 4 13603449 13603449 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 4 13603449 13603449 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.5075 p.S1692N 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 19 0 0.00 16 5 23.81 BRAF 0 genome.wustl.edu 37 7 140501350 140501350 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 140501350 140501350 G A SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.722 p.T241M 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 tier1 - - 25 0 0.00 31 7 18.42 BSDC1 0 genome.wustl.edu 37 1 32844434 32844434 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 32844434 32844434 G T SNP BSDC1 ENST00000341071 human ensembl 74_37 -1 known missense c.470 p.P157Q 1.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC ENSG00000160058 62 0 0.00 60 4 6.25 C11orf80 0 genome.wustl.edu 37 11 66555629 66555629 + Splice_Site SNP A A G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 66555629 66555629 A G SNP C11orf80 ENST00000360962 human ensembl 74_37 +1 known splice_site c.524-2 e5-2 0.996 - - - no_errors C11orf80 HGNC ENSG00000173715 62 0 0.00 72 5 6.49 C16orf45 0 genome.wustl.edu 37 16 15680909 15680909 + RNA SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 16 15680909 15680909 C T SNP C16orf45 ENST00000565913 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors C16orf45 HGNC ENSG00000166780 tier1 - - 86 0 0.00 46 7 13.21 C1orf74 0 genome.wustl.edu 37 1 209956627 209956627 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 209956627 209956627 G T SNP C1orf74 ENST00000294811 human ensembl 74_37 -1 known missense c.353 p.S118Y 0.996 NULL NULL - no_errors C1orf74 HGNC ENSG00000162757 tier1 - - 30 0 0.00 26 4 13.33 C4orf26 0 genome.wustl.edu 37 4 76489432 76489432 + Missense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 4 76489432 76489432 C A SNP C4orf26 ENST00000311623 human ensembl 74_37 +1 known missense c.176 p.T59K 0.152 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 tier1 - - 57 0 0.00 51 9 15.00 C8orf46 0 genome.wustl.edu 37 8 67417674 67417674 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 8 67417674 67417674 G A SNP C8orf46 ENST00000305454 human ensembl 74_37 +1 known missense c.191 p.R64H 0.029 NULL NULL - no_errors C8orf46 HGNC ENSG00000169085 tier1 - - 33 0 0.00 21 5 19.23 CADPS2 0 genome.wustl.edu 37 7 122033528 122033528 + Missense_Mutation SNP C C G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 122033528 122033528 C G SNP CADPS2 ENST00000449022 human ensembl 74_37 -1 known missense c.2855 p.R952T 1.000 NULL pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 tier1 - - 80 0 0.00 48 14 22.58 CAPRIN1 0 genome.wustl.edu 37 11 34093524 34093524 + Missense_Mutation SNP T T C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 34093524 34093524 T C SNP CAPRIN1 ENST00000341394 human ensembl 74_37 +1 known missense c.356 p.L119P 1.000 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC ENSG00000135387 tier1 - - 71 0 0.00 122 18 12.86 CATSPERB 0 genome.wustl.edu 37 14 92191436 92191436 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 14 92191436 92191436 G T SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.156 p.F52L 0.001 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 tier1 - - 29 0 0.00 47 4 7.84 CCDC112 0 genome.wustl.edu 37 5 114615389 114615389 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 114615389 114615389 G T SNP CCDC112 ENST00000379611 human ensembl 74_37 -1 known missense c.316 p.L106I 0.982 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 20 0 0.00 61 4 6.15 CCDC151 0 genome.wustl.edu 37 19 11531819 11531819 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 11531819 11531819 G A SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known missense c.1652 p.A551V 0.000 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 tier1 - - 78 0 0.00 66 4 5.71 CCDC94 0 genome.wustl.edu 37 19 4262016 4262016 + Nonsense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 4262016 4262016 C T SNP CCDC94 ENST00000262962 human ensembl 74_37 +1 known nonsense c.613 p.R205* 0.000 pfam_CWC16 pfam_CWC16 - no_errors CCDC94 HGNC ENSG00000105248 53 0 0.00 33 3 8.33 CD6 0 genome.wustl.edu 37 11 60783215 60783215 + Missense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 60783215 60783215 C A SNP CD6 ENST00000313421 human ensembl 74_37 +1 known missense c.1418 p.P473Q 0.144 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD6 HGNC ENSG00000013725 39 0 0.00 40 3 6.98 CEP152 0 genome.wustl.edu 37 15 49052391 49052391 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 15 49052391 49052391 G T SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.2635 p.L879I 0.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 63 0 0.00 54 3 5.26 CFDP1 0 genome.wustl.edu 37 16 75327731 75327732 + RNA INS - - A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 16 75327731 75327732 - A INS CFDP1 ENST00000570103 human ensembl 74_37 -1 known rna NULL NULL 0.904:0.940 - - - no_errors CFDP1 HGNC ENSG00000153774 tier1 20 0 0.00 41 4 8.89 CHRNA4 0 genome.wustl.edu 37 20 61987390 61987390 + Missense_Mutation SNP T T C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 20 61987390 61987390 T C SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.320 p.N107S 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 tier1 - - 52 0 0.00 63 14 18.18 CLEC14A 0 genome.wustl.edu 37 14 38724781 38724781 + Silent SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 14 38724781 38724781 G A SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known silent c.447 p.T149 0.041 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 tier1 - - 43 0 0.00 41 5 10.87 CLMN 0 genome.wustl.edu 37 14 95690143 95690143 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 14 95690143 95690143 C T SNP CLMN ENST00000298912 human ensembl 74_37 -1 known missense c.194 p.G65D 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 43 0 0.00 35 2 5.41 CMYA5 0 genome.wustl.edu 37 5 79025904 79025904 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 79025904 79025904 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.1316 p.A439V 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 60 0 0.00 59 4 6.35 COL4A6 0 genome.wustl.edu 37 X 107422508 107422508 + Silent SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 X 107422508 107422508 G T SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known silent c.2295 p.G765 0.889 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 tier1 - - 66 0 0.00 37 4 9.76 CPAMD8 0 genome.wustl.edu 37 19 17108037 17108037 + Missense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 17108037 17108037 C A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.1120 p.G374W 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 - - 34 0 0.00 23 4 14.81 CTNNA1 0 genome.wustl.edu 37 5 138145894 138145894 + Splice_Site SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 138145894 138145894 G T SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known splice_site c.468+1 e3+1 1.000 - - - no_errors CTNNA1 HGNC ENSG00000044115 tier1 - - 47 0 0.00 43 4 8.51 CTNND1 0 genome.wustl.edu 37 11 57575878 57575878 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 57575878 57575878 G T SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.2108 p.R703L 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 - - 75 0 0.00 61 10 13.89 CTSD 0 genome.wustl.edu 37 11 1780814 1780814 + Missense_Mutation SNP A A C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 1780814 1780814 A C SNP CTSD ENST00000236671 human ensembl 74_37 -1 known missense c.284 p.V95G 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 tier1 - - 166 0 0.00 126 19 13.10 CTTNBP2 0 genome.wustl.edu 37 7 117431583 117431583 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 117431583 117431583 G T SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.1667 p.P556H 1.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 53 0 0.00 56 3 5.08 CUBN 0 genome.wustl.edu 37 10 17156080 17156080 + Missense_Mutation SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 10 17156080 17156080 G C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.829 p.L277V 0.170 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 59 0 0.00 35 6 14.63 CYP2C9 0 genome.wustl.edu 37 10 96698578 96698578 + Missense_Mutation SNP A A G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 10 96698578 96698578 A G SNP CYP2C9 ENST00000260682 human ensembl 74_37 +1 known missense c.139 p.I47V 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC ENSG00000138109 tier1 - - 52 0 0.00 62 11 15.07 DAPK2 0 genome.wustl.edu 37 15 64215512 64215512 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 15 64215512 64215512 G A SNP DAPK2 ENST00000558069 human ensembl 74_37 -1 putative missense c.889 p.R297W 0.003 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK2 HGNC ENSG00000035664 tier1 - - 25 0 0.00 14 5 26.32 DAZAP2 0 genome.wustl.edu 37 12 51634498 51634498 + RNA SNP T T C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 12 51634498 51634498 T C SNP DAZAP2 ENST00000552173 human ensembl 74_37 +1 known rna NULL NULL 0.856 - - - no_errors DAZAP2 HGNC ENSG00000183283 tier1 - - 22 0 0.00 13 4 23.53 DDR1 0 genome.wustl.edu 37 6 30864562 30864562 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 30864562 30864562 G A SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known missense c.1789 p.G597R 0.517 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 tier1 - - 25 0 0.00 16 5 23.81 DDX25 0 genome.wustl.edu 37 11 125780362 125780362 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 125780362 125780362 G A SNP DDX25 ENST00000263576 human ensembl 74_37 +1 known missense c.611 p.R204Q 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 - - 62 0 0.00 66 10 13.16 DHX38 0 genome.wustl.edu 37 16 72138403 72138403 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 16 72138403 72138403 G T SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.2029 p.D677Y 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 tier1 - - 61 0 0.00 71 4 5.33 DMD 0 genome.wustl.edu 37 X 31525458 31525458 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 X 31525458 31525458 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.8330 p.R2777K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 16 0 0.00 25 13 34.21 DMKN 0 genome.wustl.edu 37 19 35991478 35991478 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 35991478 35991478 G A SNP DMKN ENST00000339686 human ensembl 74_37 -1 known missense c.1244 p.A415V 0.000 NULL NULL - no_errors DMKN HGNC ENSG00000161249 50 0 0.00 33 2 5.56 DNAH11 0 genome.wustl.edu 37 7 21654793 21654793 + Frame_Shift_Del DEL T T - TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 21654793 21654793 T - DEL DNAH11 ENST00000328843 human ensembl 74_37 +1 known frame_shift_del c.3914 p.F1306fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 21 0 0.00 28 9 24.32 DNAH14 0 genome.wustl.edu 37 1 225334896 225334896 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 225334896 225334896 G T SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.4834 p.V1612F 0.779 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 40 0 0.00 56 5 8.20 DNAH6 0 genome.wustl.edu 37 2 84930679 84930679 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 84930679 84930679 C T SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known missense c.8222 p.A2741V 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 tier1 - - 36 0 0.00 38 4 9.52 DNAH8 0 genome.wustl.edu 37 6 38838224 38838224 + Missense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 38838224 38838224 C A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.6225 p.F2075L 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 43 0 0.00 48 4 7.69 DNAJC17 0 genome.wustl.edu 37 15 41065993 41065993 + Missense_Mutation SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 15 41065993 41065993 G C SNP DNAJC17 ENST00000220496 human ensembl 74_37 -1 known missense c.724 p.L242V 1.000 NULL pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC17 HGNC ENSG00000104129 tier1 - - 92 0 0.00 66 13 16.46 DNAJC6 0 genome.wustl.edu 37 1 65871646 65871647 + Frame_Shift_Ins INS - - TA TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 65871646 65871647 - TA INS DNAJC6 ENST00000371069 human ensembl 74_37 +1 known frame_shift_ins c.2321_2322 p.M775fs 0.993:0.111 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 tier1 65 0 0.00 49 16 24.62 EDNRB 0 genome.wustl.edu 37 13 78493709 78493709 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 13 78493709 78493709 G T SNP EDNRB ENST00000377211 human ensembl 74_37 -1 putative missense c.42 p.S14R 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 tier1 - - 49 0 0.00 50 4 7.41 EIF4EBP2 0 genome.wustl.edu 37 10 72179687 72179687 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 10 72179687 72179687 G T SNP EIF4EBP2 ENST00000373218 human ensembl 74_37 +1 known missense c.163 p.D55Y 1.000 pfam_EIF4EBP pfam_EIF4EBP - no_errors EIF4EBP2 HGNC ENSG00000148730 40 0 0.00 44 3 6.38 ENSG00000201885 0 genome.wustl.edu 37 7 76642997 76642997 + RNA SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 76642997 76642997 G A SNP ENSG00000201885 ENST00000365015 human ensembl 74_37 +1 novel rna NULL NULL 0.003 - - - no_errors Y_RNA RFAM ENSG00000201885 17 0 0.00 40 3 6.98 ENSG00000215922 0 genome.wustl.edu 37 3 166743251 166743252 + RNA DEL AC AC - TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 3 166743251 166743252 AC - DEL ENSG00000215922 ENST00000401103 human ensembl 74_37 +1 novel rna NULL NULL 0.018:0.022 - - - no_errors AC092965.1 Clone_based_ensembl_gene ENSG00000215922 tier1 26 0 0.00 52 7 11.86 ENSG00000248245 0 genome.wustl.edu 37 5 132559802 132559802 + RNA SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 132559802 132559802 G T SNP ENSG00000248245 ENST00000502776 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors CTB-49A3.2 Clone_based_vega_gene ENSG00000248245 tier1 - - 30 0 0.00 15 3 16.67 ENSG00000258027 0 genome.wustl.edu 37 14 20145989 20145989 + RNA SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 14 20145989 20145989 G C SNP ENSG00000258027 ENST00000548217 human ensembl 74_37 +1 known rna NULL NULL 0.895 - - - no_errors RP11-597A11.1 Clone_based_vega_gene ENSG00000258027 tier1 rs200742985 - 11 0 0.00 6 4 40.00 EPHA1 0 genome.wustl.edu 37 7 143094701 143094701 + Silent SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 143094701 143094701 C T SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known silent c.1665 p.L555 0.917 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA1 HGNC ENSG00000146904 tier1 - - 51 0 0.00 55 5 8.33 EPHA5 0 genome.wustl.edu 37 4 66467595 66467595 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 4 66467595 66467595 G T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.674 p.S225Y 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 25 0 0.00 22 2 8.33 EPHX2 0 genome.wustl.edu 37 8 27373843 27373843 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 8 27373843 27373843 G T SNP EPHX2 ENST00000521400 human ensembl 74_37 +1 known missense c.838 p.A280S 1.000 prints_Epox_hydrolase-like pfam_AB_hydrolase_1,pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_HAD-SF_hydro_IA,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors EPHX2 HGNC ENSG00000120915 47 0 0.00 43 3 6.52 ERAP2 0 genome.wustl.edu 37 5 96215729 96215729 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 96215729 96215729 G T SNP ERAP2 ENST00000437043 human ensembl 74_37 +1 known missense c.340 p.D114Y 0.981 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP2 HGNC ENSG00000164308 46 0 0.00 38 3 7.32 EXD2 0 genome.wustl.edu 37 14 69702803 69702803 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 14 69702803 69702803 G A SNP EXD2 ENST00000312994 human ensembl 74_37 +1 known missense c.1090 p.D364N 1.000 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 tier1 - - 41 0 0.00 25 12 32.43 FAM120C 0 genome.wustl.edu 37 X 54114227 54114227 + Silent SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 X 54114227 54114227 G T SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known silent c.2598 p.G866 0.979 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 tier1 - - 24 0 0.00 14 3 17.65 FAM154A 0 genome.wustl.edu 37 9 18928632 18928632 + Missense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 9 18928632 18928632 C A SNP FAM154A ENST00000380534 human ensembl 74_37 -1 known missense c.843 p.W281C 1.000 NULL NULL - no_errors FAM154A HGNC ENSG00000155875 tier1 - - 69 0 0.00 45 14 23.33 FAM230B 0 genome.wustl.edu 37 22 21538027 21538027 + RNA SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 22 21538027 21538027 G A SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 - - 258 0 0.00 190 10 5.00 FAM63B 0 genome.wustl.edu 37 15 59064348 59064348 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 15 59064348 59064348 G T SNP FAM63B ENST00000559228 human ensembl 74_37 +1 known nonsense c.754 p.E252* 1.000 NULL pfam_DUF544 - no_errors FAM63B HGNC ENSG00000128923 tier1 - - 59 0 0.00 42 10 19.23 FANK1 0 genome.wustl.edu 37 10 127693499 127693499 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 10 127693499 127693499 C T SNP FANK1 ENST00000368693 human ensembl 74_37 +1 known missense c.586 p.L196F 0.994 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt - no_errors FANK1 HGNC ENSG00000203780 tier1 - - 79 0 0.00 57 12 17.39 FBXO25 0 genome.wustl.edu 37 8 408445 408445 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 8 408445 408445 G T SNP FBXO25 ENST00000276326 human ensembl 74_37 +1 known missense c.737 p.G246V 0.999 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXO25 HGNC ENSG00000147364 52 0 0.00 54 3 5.17 FCN1 0 genome.wustl.edu 37 9 137801649 137801649 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 9 137801649 137801649 C T SNP FCN1 ENST00000371806 human ensembl 74_37 -1 known missense c.976 p.A326T 0.113 superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN1 HGNC ENSG00000085265 tier1 - - 39 0 0.00 30 4 11.76 FGD5 0 genome.wustl.edu 37 3 14860755 14860755 + Silent SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 3 14860755 14860755 G A SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known silent c.177 p.S59 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 tier1 - - 17 0 0.00 14 4 22.22 FLT3 0 genome.wustl.edu 37 13 28623601 28623601 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 13 28623601 28623601 G T SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known nonsense c.956 p.S319* 1.000 pfam_Immunoglobulin,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 tier1 - - 58 0 0.00 38 4 9.52 FMN2 0 genome.wustl.edu 37 1 240519208 240519208 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 240519208 240519208 G T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4858 p.A1620S 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 19 0 0.00 45 3 6.25 FOXP1 0 genome.wustl.edu 37 3 71008341 71008342 + RNA INS - - T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 3 71008341 71008342 - T INS FOXP1 ENST00000460805 human ensembl 74_37 -1 known rna NULL NULL 0.616:0.439 - - - no_errors FOXP1 HGNC ENSG00000114861 tier1 39 0 0.00 25 5 16.67 FOXR1 0 genome.wustl.edu 37 11 118849880 118849880 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 118849880 118849880 G A SNP FOXR1 ENST00000317011 human ensembl 74_37 +1 known missense c.350 p.R117Q 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR1 HGNC ENSG00000176302 tier1 rs144422939 - 56 0 0.00 47 8 14.55 FOXR1 0 genome.wustl.edu 37 11 118850345 118850345 + Missense_Mutation SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 118850345 118850345 G C SNP FOXR1 ENST00000317011 human ensembl 74_37 +1 known missense c.578 p.G193A 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR1 HGNC ENSG00000176302 tier1 - - 75 0 0.00 55 16 22.54 FREM2 0 genome.wustl.edu 37 13 39265254 39265254 + Missense_Mutation SNP T T C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 13 39265254 39265254 T C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.3773 p.I1258T 0.078 superfamily_Cadherin-like pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 54 0 0.00 63 7 10.00 FRK 0 genome.wustl.edu 37 6 116277717 116277717 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 116277717 116277717 G T SNP FRK ENST00000606080 human ensembl 74_37 -1 known missense c.856 p.H286N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FRK HGNC ENSG00000111816 tier1 - - 40 0 0.00 86 5 5.49 FRMD6 0 genome.wustl.edu 37 14 52174919 52174919 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 14 52174919 52174919 G A SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.682 p.D228N 1.000 pfam_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 tier1 - - 41 0 0.00 15 9 36.00 FZD9 0 genome.wustl.edu 37 7 72849811 72849811 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 72849811 72849811 G A SNP FZD9 ENST00000344575 human ensembl 74_37 +1 known missense c.1474 p.G492R 0.962 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD9 HGNC ENSG00000188763 40 0 0.00 36 2 5.26 G6PC3 0 genome.wustl.edu 37 17 42153234 42153234 + Silent SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 42153234 42153234 G T SNP G6PC3 ENST00000269097 human ensembl 74_37 +1 known silent c.864 p.V288 0.995 pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC3 HGNC ENSG00000141349 tier1 - - 77 0 0.00 34 4 10.53 GCSAML 0 genome.wustl.edu 37 1 247737631 247737631 + Missense_Mutation SNP A A T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 247737631 247737631 A T SNP GCSAML ENST00000366488 human ensembl 74_37 +1 known missense c.355 p.R119W 0.000 NULL NULL - no_errors GCSAML HGNC ENSG00000169224 tier1 - - 65 0 0.00 41 11 21.15 GLIPR1L1 0 genome.wustl.edu 37 12 75728663 75728663 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 12 75728663 75728663 C T SNP GLIPR1L1 ENST00000378695 human ensembl 74_37 +1 known missense c.155 p.A52V 0.417 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1L1 HGNC ENSG00000173401 93 0 0.00 42 3 6.67 GNAQ 0 genome.wustl.edu 37 9 80409502 80409502 + Silent SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 9 80409502 80409502 G A SNP GNAQ ENST00000286548 human ensembl 74_37 -1 known silent c.612 p.V204 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha - no_errors GNAQ HGNC ENSG00000156052 17 0 0.00 30 2 6.06 GOLGB1 0 genome.wustl.edu 37 3 121448073 121448073 + Missense_Mutation SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 3 121448073 121448073 G C SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.364 p.L122V 0.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 40 0 0.00 61 9 12.86 GPR110 0 genome.wustl.edu 37 6 46984422 46984422 + Nonsense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 46984422 46984422 C A SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known nonsense c.694 p.E232* 0.000 pfam_SEA_dom pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 tier1 - - 39 0 0.00 35 4 10.26 GPR12 0 genome.wustl.edu 37 13 27333602 27333602 + Silent SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 13 27333602 27333602 G A SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known silent c.363 p.V121 0.984 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 tier1 - - 29 0 0.00 21 5 19.23 GRB7 0 genome.wustl.edu 37 17 37902406 37902407 + Frame_Shift_Ins INS - - C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 37902406 37902407 - C INS GRB7 ENST00000445327 human ensembl 74_37 +1 known frame_shift_ins c.1472_1473 p.L492fs 1.000:0.998 pfam_SH2,smart_SH2,pfscan_SH2 pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 tier1 46 0 0.00 68 8 10.53 GREB1L 0 genome.wustl.edu 37 18 19024311 19024311 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 18 19024311 19024311 G T SNP GREB1L ENST00000424526 human ensembl 74_37 +1 known missense c.1334 p.S445I 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1L HGNC ENSG00000141449 tier1 - - 82 0 0.00 58 4 6.45 H19 0 genome.wustl.edu 37 11 2018528 2018528 + RNA SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 2018528 2018528 C T SNP H19 ENST00000412788 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors H19 HGNC ENSG00000130600 tier1 - - 10 0 0.00 9 4 30.77 HAS3 0 genome.wustl.edu 37 16 69147378 69147378 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 16 69147378 69147378 G A SNP HAS3 ENST00000306560 human ensembl 74_37 +1 known missense c.671 p.C224Y 1.000 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 tier1 - - 25 0 0.00 17 3 15.00 HAUS4 0 genome.wustl.edu 37 14 23417124 23417124 + Nonsense_Mutation SNP T T A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 14 23417124 23417124 T A SNP HAUS4 ENST00000206474 human ensembl 74_37 -1 known nonsense c.661 p.K221* 0.993 NULL NULL - no_errors HAUS4 HGNC ENSG00000092036 30 0 0.00 23 5 17.86 HECW1 0 genome.wustl.edu 37 7 43360233 43360233 + Splice_Site SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 43360233 43360233 G T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known splice_site c.353-1 e3-1 1.000 - - - no_errors HECW1 HGNC ENSG00000002746 59 0 0.00 36 2 5.26 HORMAD2 0 genome.wustl.edu 37 22 30572086 30572086 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 22 30572086 30572086 G T SNP HORMAD2 ENST00000336726 human ensembl 74_37 +1 known missense c.854 p.S285I 0.000 NULL pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD2 HGNC ENSG00000176635 tier1 - - 55 0 0.00 76 4 5.00 IDI1 0 genome.wustl.edu 37 10 1089949 1089949 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 10 1089949 1089949 G T SNP IDI1 ENST00000381344 human ensembl 74_37 -1 known missense c.303 p.N101K 1.000 superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI1 HGNC ENSG00000067064 tier1 - - 44 0 0.00 56 4 6.67 IDO1 0 genome.wustl.edu 37 8 39771476 39771476 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 8 39771476 39771476 G T SNP IDO1 ENST00000518237 human ensembl 74_37 +1 known missense c.35 p.S12I 0.000 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO1 HGNC ENSG00000131203 70 0 0.00 56 3 5.08 IGFL4 0 genome.wustl.edu 37 19 46544204 46544204 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 46544204 46544204 G A SNP IGFL4 ENST00000377697 human ensembl 74_37 -1 known missense c.17 p.S6F 0.000 NULL NULL - no_errors IGFL4 HGNC ENSG00000204869 36 0 0.00 38 2 5.00 IQCA1 0 genome.wustl.edu 37 2 237406090 237406090 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 237406090 237406090 C T SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known missense c.52 p.G18S 0.001 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 tier1 - - 46 0 0.00 37 17 31.48 IRS4 0 genome.wustl.edu 37 X 107976118 107976118 + Missense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 X 107976118 107976118 C A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.3457 p.A1153S 0.005 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 14 0 0.00 10 4 28.57 ISL2 0 genome.wustl.edu 37 15 76633522 76633522 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 15 76633522 76633522 C T SNP ISL2 ENST00000558656 human ensembl 74_37 +1 known missense c.580 p.P194S 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ISL2 HGNC ENSG00000159556 52 0 0.00 52 4 7.14 ISM2 0 genome.wustl.edu 37 14 77951088 77951088 + Silent SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 14 77951088 77951088 G T SNP ISM2 ENST00000342219 human ensembl 74_37 -1 known silent c.316 p.R106 0.326 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC ENSG00000100593 66 0 0.00 34 3 7.89 ITGB2 0 genome.wustl.edu 37 21 46320388 46320388 + Silent SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 21 46320388 46320388 C T SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known silent c.744 p.E248 0.998 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 tier1 - - 149 0 0.00 101 8 7.34 IWS1 0 genome.wustl.edu 37 2 128238661 128238661 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 128238661 128238661 C T SNP IWS1 ENST00000295321 human ensembl 74_37 -1 known missense c.2419 p.A807T 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 27 0 0.00 37 2 5.13 JUN 0 genome.wustl.edu 37 1 59248515 59248516 + Frame_Shift_Ins INS - - AG TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 59248515 59248516 - AG INS JUN ENST00000371222 human ensembl 74_37 -1 known frame_shift_ins c.228_227 p.E77fs 1.000:1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC ENSG00000177606 tier1 70 0 0.00 36 19 34.55 KATNAL2 0 genome.wustl.edu 37 18 44593476 44593476 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 18 44593476 44593476 G A SNP KATNAL2 ENST00000245121 human ensembl 74_37 +1 known missense c.595 p.V199M 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL2 HGNC ENSG00000167216 tier1 - - 69 0 0.00 60 12 16.67 KCNA5 0 genome.wustl.edu 37 12 5153934 5153934 + Silent SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 12 5153934 5153934 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known silent c.621 p.D207 0.537 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 tier1 - - 116 0 0.00 84 9 9.68 KCNIP1 0 genome.wustl.edu 37 5 170145823 170145823 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 170145823 170145823 G T SNP KCNIP1 ENST00000411494 human ensembl 74_37 +1 known missense c.156 p.Q52H 0.998 prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP1 HGNC ENSG00000182132 tier1 - - 55 0 0.00 29 3 9.38 KCNJ1 0 genome.wustl.edu 37 11 128709220 128709220 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 128709220 128709220 C T SNP KCNJ1 ENST00000392664 human ensembl 74_37 -1 known missense c.976 p.A326T 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ1 HGNC ENSG00000151704 34 0 0.00 34 2 5.56 KIAA0895 0 genome.wustl.edu 37 7 36397154 36397154 + Missense_Mutation SNP A A G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 36397154 36397154 A G SNP KIAA0895 ENST00000297063 human ensembl 74_37 -1 known missense c.224 p.L75P 1.000 NULL pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 tier1 - - 34 0 0.00 49 16 24.62 KIF16B 0 genome.wustl.edu 37 20 16254017 16254017 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 20 16254017 16254017 C T SNP KIF16B ENST00000354981 human ensembl 74_37 -1 known missense c.3835 p.A1279T 0.021 smart_Phox,pfscan_Phox pfam_Kinesin_motor_dom,pfam_Phox,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,superfamily_Phox,smart_Kinesin_motor_dom,smart_Phox,pfscan_Phox,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 50 0 0.00 39 3 7.14 KRT73 0 genome.wustl.edu 37 12 53009084 53009084 + Missense_Mutation SNP A A T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 12 53009084 53009084 A T SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.702 p.N234K 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 tier1 - - 36 0 0.00 24 7 22.58 KRTAP2-2 0 genome.wustl.edu 37 17 39211148 39211148 + Missense_Mutation SNP A A G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 39211148 39211148 A G SNP KRTAP2-2 ENST00000542910 human ensembl 74_37 -1 known missense c.316 p.S106P 0.895 NULL pfam_Keratin-assoc - no_errors KRTAP2-2 HGNC ENSG00000214518 20 0 0.00 143 10 6.49 KRTAP3-2 0 genome.wustl.edu 37 17 39156016 39156016 + Silent SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 39156016 39156016 G C SNP KRTAP3-2 ENST00000391587 human ensembl 74_37 -1 known silent c.90 p.V30 1.000 pfam_Keratin_matx pfam_Keratin_matx - no_errors KRTAP3-2 HGNC ENSG00000212900 tier1 - - 93 0 0.00 358 41 10.28 L3MBTL4 0 genome.wustl.edu 37 18 6301916 6301916 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 18 6301916 6301916 G T SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.113 p.T38N 0.000 NULL pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 - - 86 0 0.00 94 7 6.93 LINC00957 0 genome.wustl.edu 37 7 44080840 44080840 + RNA SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 44080840 44080840 G T SNP LINC00957 ENST00000441052 human ensembl 74_37 +1 known rna NULL NULL 0.076 - - - no_errors LINC00957 HGNC ENSG00000235314 tier1 - - 40 0 0.00 26 13 33.33 LMF2 0 genome.wustl.edu 37 22 50942048 50942048 + Silent SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 22 50942048 50942048 G T SNP LMF2 ENST00000474879 human ensembl 74_37 -1 known silent c.1896 p.P632 0.082 NULL pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 tier1 - - 53 0 0.00 36 4 10.00 LOC101927718 0 genome.wustl.edu 37 18 28923621 28923621 + RNA SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 18 28923621 28923621 G A SNP LOC101927718 ENST00000578119 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-534N16.1 Clone_based_vega_gene ENSG00000266729 tier1 rs112958941 - 57 0 0.00 40 18 31.03 LOC286059 0 genome.wustl.edu 37 8 22939069 22939069 + RNA SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 8 22939069 22939069 G A SNP LOC286059 ENST00000501897 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-875O11.2 Clone_based_vega_gene ENSG00000246130 13 0 0.00 13 4 23.53 LPA 0 genome.wustl.edu 37 6 160969601 160969601 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 160969601 160969601 G T SNP LPA ENST00000316300 human ensembl 74_37 -1 known nonsense c.5064 p.C1688* 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 tier1 - - 144 0 0.00 108 25 18.80 LRIF1 0 genome.wustl.edu 37 1 111494956 111494956 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 111494956 111494956 G A SNP LRIF1 ENST00000369763 human ensembl 74_37 -1 known missense c.550 p.H184Y 1.000 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 tier1 - - 47 0 0.00 32 7 17.95 LRRC16A 0 genome.wustl.edu 37 6 25605048 25605048 + Silent SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 25605048 25605048 G A SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel silent c.3561 p.G1187 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 tier1 - - 58 0 0.00 45 14 23.73 MAB21L3 0 genome.wustl.edu 37 1 116675886 116675886 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 116675886 116675886 G A SNP MAB21L3 ENST00000369500 human ensembl 74_37 +1 known missense c.989 p.R330Q 0.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L3 HGNC ENSG00000173212 tier1 rs145242444 - 80 0 0.00 38 32 45.71 MAD2L1BP 0 genome.wustl.edu 37 6 43608158 43608158 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 43608158 43608158 G T SNP MAD2L1BP ENST00000451025 human ensembl 74_37 +1 known missense c.809 p.G270V 1.000 pfam_MAD1/Cdc20-bound-Mad2-bd pfam_MAD1/Cdc20-bound-Mad2-bd - no_errors MAD2L1BP HGNC ENSG00000124688 33 0 0.00 39 4 9.30 MAGEA8 0 genome.wustl.edu 37 X 149013844 149013844 + Silent SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 X 149013844 149013844 C A SNP MAGEA8 ENST00000286482 human ensembl 74_37 +1 known silent c.798 p.G266 0.102 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 tier1 - - 58 0 0.00 51 4 7.27 MAGEB5 0 genome.wustl.edu 37 X 26235844 26235844 + Silent SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 X 26235844 26235844 G C SNP MAGEB5 ENST00000379029 human ensembl 74_37 +1 known silent c.426 p.L142 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEB5 HGNC ENSG00000188408 tier1 - - 12 0 0.00 13 6 31.58 MAGI2 0 genome.wustl.edu 37 7 77797250 77797250 + Missense_Mutation SNP C C G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 77797250 77797250 C G SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.2579 p.R860T 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 tier1 - - 79 0 0.00 50 14 21.88 MALAT1 0 genome.wustl.edu 37 11 65267000 65267000 + RNA SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 65267000 65267000 G C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 44 0 0.00 74 12 13.95 MALAT1 0 genome.wustl.edu 37 11 65268522 65268522 + RNA SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 65268522 65268522 G C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 28 0 0.00 34 10 22.73 MAP1B 0 genome.wustl.edu 37 5 71482533 71482533 + Silent SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 71482533 71482533 C A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.462 p.S154 0.175 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 35 0 0.00 32 4 11.11 MCM9 0 genome.wustl.edu 37 6 119136219 119136219 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 119136219 119136219 G T SNP MCM9 ENST00000316316 human ensembl 74_37 -1 known nonsense c.3200 p.S1067* 0.013 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 22 0 0.00 36 3 7.69 MEP1B 0 genome.wustl.edu 37 18 29787385 29787385 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 18 29787385 29787385 G T SNP MEP1B ENST00000269202 human ensembl 74_37 +1 known missense c.718 p.D240Y 1.000 pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1B HGNC ENSG00000141434 37 0 0.00 57 4 6.56 MGAT3 0 genome.wustl.edu 37 22 39884528 39884528 + Silent SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 22 39884528 39884528 C T SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known silent c.1176 p.F392 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 tier1 - - 62 0 0.00 48 8 14.29 MIR363 0 genome.wustl.edu 37 X 133303464 133303464 + RNA SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 X 133303464 133303464 C T SNP MIR363 ENST00000384840 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR363 HGNC ENSG00000207572 48 0 0.00 52 4 7.14 MIR943 0 genome.wustl.edu 37 4 1988154 1988154 + RNA SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 4 1988154 1988154 G A SNP MIR943 ENST00000401286 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR943 HGNC ENSG00000216105 tier1 - - 68 0 0.00 30 4 11.76 MKL2 0 genome.wustl.edu 37 16 14311145 14311145 + Splice_Site SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 16 14311145 14311145 G T SNP MKL2 ENST00000341243 human ensembl 74_37 +1 known splice_site c.481+1 e5+1 1.000 - - - no_errors MKL2 HGNC ENSG00000186260 61 0 0.00 66 6 8.33 MPRIP 0 genome.wustl.edu 37 17 17000134 17000134 + RNA SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 17000134 17000134 G T SNP MPRIP ENST00000395807 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors MPRIP HGNC ENSG00000133030 tier1 - - 81 0 0.00 63 5 7.35 MRGPRF 0 genome.wustl.edu 37 11 68772956 68772956 + Silent SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 68772956 68772956 G A SNP MRGPRF ENST00000309099 human ensembl 74_37 -1 known silent c.822 p.Y274 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRF HGNC ENSG00000172935 tier1 rs144312357 - 34 0 0.00 23 7 23.33 MROH2B 0 genome.wustl.edu 37 5 41018510 41018510 + Nonsense_Mutation SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 41018510 41018510 G C SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known nonsense c.2696 p.S899* 0.994 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 41 0 0.00 34 6 15.00 MST1L 0 genome.wustl.edu 37 1 17083485 17083485 + RNA SNP A A G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 17083485 17083485 A G SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MST1L HGNC ENSG00000186715 8 0 0.00 17 4 19.05 MT-CO1 0 genome.wustl.edu 37 MT 6666 6666 + Missense_Mutation SNP T T C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 MT 6666 6666 T C SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.763 p.S255P NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 14 0 0.00 4 7 63.64 MT-ND5 0 genome.wustl.edu 37 MT 13787 13787 + Missense_Mutation SNP T T C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 MT 13787 13787 T C SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1451 p.L484P NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 8 0 0.00 2 7 77.78 MTMR14 0 genome.wustl.edu 37 3 9724868 9724868 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 3 9724868 9724868 G T SNP MTMR14 ENST00000296003 human ensembl 74_37 +1 known missense c.904 p.D302Y 1.000 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 61 0 0.00 36 3 7.69 MYADML 0 genome.wustl.edu 37 2 33952553 33952553 + RNA SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 33952553 33952553 C T SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MYADML HGNC ENSG00000239649 36 0 0.00 15 4 21.05 MYSM1 0 genome.wustl.edu 37 1 59137558 59137558 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 59137558 59137558 G A SNP MYSM1 ENST00000472487 human ensembl 74_37 -1 known missense c.1645 p.P549S 0.361 NULL pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 36 0 0.00 68 4 5.56 NCKAP5 0 genome.wustl.edu 37 2 133540699 133540699 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 133540699 133540699 G T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3685 p.L1229I 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 47 0 0.00 63 4 5.97 NCL 0 genome.wustl.edu 37 2 232321441 232321441 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 232321441 232321441 C T SNP NCL ENST00000322723 human ensembl 74_37 -1 known missense c.1606 p.A536T 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 42 0 0.00 39 3 7.14 NELL1 0 genome.wustl.edu 37 11 20907087 20907087 + Splice_Site SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 20907087 20907087 G T SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known splice_site c.603+1 e5+1 1.000 - - - no_errors NELL1 HGNC ENSG00000165973 37 0 0.00 38 2 5.00 NF2 0 genome.wustl.edu 37 22 30057296 30057296 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 22 30057296 30057296 G T SNP NF2 ENST00000338641 human ensembl 74_37 +1 known nonsense c.778 p.E260* 1.000 pirsf_ERM,pfam_FERM_PH-like_C,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin - no_errors NF2 HGNC ENSG00000186575 78 0 0.00 60 4 6.25 NFAT5 0 genome.wustl.edu 37 16 69726422 69726422 + Silent SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 16 69726422 69726422 G A SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known silent c.2694 p.Q898 0.988 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 27 0 0.00 27 2 6.90 NKPD1 0 genome.wustl.edu 37 19 45662002 45662002 + Missense_Mutation SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 45662002 45662002 G C SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known missense c.448 p.L150V 0.792 NULL pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 tier1 - - 12 0 0.00 6 4 40.00 NLRP1 0 genome.wustl.edu 37 17 5440193 5440193 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 5440193 5440193 G T SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.2938 p.Q980K 0.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 tier1 - - 26 0 0.00 24 4 14.29 NLRP7 0 genome.wustl.edu 37 19 55450533 55450533 + Nonsense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 55450533 55450533 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known nonsense c.1738 p.Q580* 0.002 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 33 0 0.00 26 2 7.14 NSL1 0 genome.wustl.edu 37 1 212911901 212911901 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 212911901 212911901 G T SNP NSL1 ENST00000366977 human ensembl 74_37 -1 known missense c.695 p.P232H 0.051 NULL pfam_Kinetochore_Mis14 - no_errors NSL1 HGNC ENSG00000117697 tier1 - - 51 0 0.00 76 4 5.00 NSUN6 0 genome.wustl.edu 37 10 18835047 18835047 + Missense_Mutation SNP T T C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 10 18835047 18835047 T C SNP NSUN6 ENST00000377304 human ensembl 74_37 -1 known missense c.1225 p.R409G 0.481 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT - no_errors NSUN6 HGNC ENSG00000241058 34 0 0.00 32 3 8.57 NTM 0 genome.wustl.edu 37 11 132206283 132206283 + RNA DEL A A - TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 132206283 132206283 A - DEL NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.023 - - - no_errors NTM HGNC ENSG00000182667 tier1 12 0 0.00 10 3 23.08 NUDT7 0 genome.wustl.edu 37 16 77759424 77759424 + Silent SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 16 77759424 77759424 G A SNP NUDT7 ENST00000268533 human ensembl 74_37 +1 known silent c.132 p.L44 0.108 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 tier1 - - 51 0 0.00 55 4 6.78 NUMB 0 genome.wustl.edu 37 14 73750834 73750834 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 14 73750834 73750834 G T SNP NUMB ENST00000355058 human ensembl 74_37 -1 known missense c.904 p.P302T 1.000 pfam_Numb_domain,pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMB HGNC ENSG00000133961 tier1 - - 76 0 0.00 59 4 6.35 NUP107 0 genome.wustl.edu 37 12 69126365 69126366 + RNA INS - - A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 12 69126365 69126366 - A INS NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors NUP107 HGNC ENSG00000111581 tier1 33 0 0.00 44 6 12.00 NWD1 0 genome.wustl.edu 37 19 16923594 16923594 + Silent SNP C C G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 16923594 16923594 C G SNP NWD1 ENST00000339803 human ensembl 74_37 +1 known silent c.3921 p.S1307 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 tier1 - - 63 0 0.00 40 14 25.93 OR4A5 0 genome.wustl.edu 37 11 51411621 51411621 + Missense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 51411621 51411621 C A SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.775 p.V259F 0.159 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 tier1 - - 61 0 0.00 56 7 11.11 OR7E24 0 genome.wustl.edu 37 19 9362188 9362188 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 9362188 9362188 C T SNP OR7E24 ENST00000456448 human ensembl 74_37 +1 known missense c.469 p.R157C 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 tier1 rs201669790 - 79 0 0.00 46 19 29.23 OXSM 0 genome.wustl.edu 37 3 25833286 25833286 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 3 25833286 25833286 G T SNP OXSM ENST00000280701 human ensembl 74_37 +1 known missense c.775 p.D259Y 0.922 pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 - no_errors OXSM HGNC ENSG00000151093 38 0 0.00 30 2 6.25 PATL1 0 genome.wustl.edu 37 11 59423454 59423454 + Missense_Mutation SNP C C G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 59423454 59423454 C G SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known missense c.788 p.R263T 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 tier1 - - 96 0 0.00 65 21 24.42 PCDHA2 0 genome.wustl.edu 37 5 140174555 140174555 + Silent SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 140174555 140174555 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.6 p.A2 0.003 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 tier1 - - 75 0 0.00 51 9 15.00 PCDHGA12 0 genome.wustl.edu 37 5 140812130 140812130 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 140812130 140812130 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1804 p.A602T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 117 0 0.00 94 6 5.94 PCDHGA6 0 genome.wustl.edu 37 5 140755185 140755185 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 140755185 140755185 G A SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.1535 p.G512E 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 tier1 - - 95 0 0.00 67 4 5.63 PCDHGB1 0 genome.wustl.edu 37 5 140731471 140731471 + Silent SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 140731471 140731471 G A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known silent c.1644 p.V548 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 tier1 - - 74 0 0.00 45 11 19.64 PCED1B 0 genome.wustl.edu 37 12 47628922 47628922 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 12 47628922 47628922 C T SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known missense c.76 p.H26Y 1.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 tier1 - - 68 0 0.00 33 8 19.51 PDZRN4 0 genome.wustl.edu 37 12 41966630 41966630 + Silent SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 12 41966630 41966630 C A SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known silent c.2049 p.I683 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 - - 55 0 0.00 44 7 13.73 PHF8 0 genome.wustl.edu 37 X 54040952 54040952 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 X 54040952 54040952 G T SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known nonsense c.749 p.S250* 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 tier1 - - 34 0 0.00 55 4 6.78 PHYHD1 0 genome.wustl.edu 37 9 131702926 131702926 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 9 131702926 131702926 G T SNP PHYHD1 ENST00000308941 human ensembl 74_37 +1 known missense c.613 p.V205L 0.001 NULL pfam_Phytyl_CoA_dOase - no_errors PHYHD1 HGNC ENSG00000175287 tier1 - - 76 0 0.00 61 4 6.15 PIK3R3 0 genome.wustl.edu 37 1 46511589 46511589 + Splice_Site SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 46511589 46511589 C A SNP PIK3R3 ENST00000540385 human ensembl 74_37 -1 known splice_site c.1325+1 e9+1 1.000 - - - no_errors PIK3R3 HGNC ENSG00000117461 27 0 0.00 40 4 9.09 PLBD1 0 genome.wustl.edu 37 12 14664493 14664493 + Missense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 12 14664493 14664493 C A SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known missense c.997 p.A333S 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 56 0 0.00 56 4 6.67 PLEKHG4B 0 genome.wustl.edu 37 5 140666 140666 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 140666 140666 C T SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.244 p.R82W 0.189 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 tier1 - - 123 0 0.00 79 7 8.14 PPIL4 0 genome.wustl.edu 37 6 149856809 149856809 + Silent SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 149856809 149856809 C T SNP PPIL4 ENST00000253329 human ensembl 74_37 -1 known silent c.387 p.V129 0.999 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL4 HGNC ENSG00000131013 tier1 - - 51 0 0.00 55 17 23.61 PPP1R3D 0 genome.wustl.edu 37 20 58514148 58514148 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 20 58514148 58514148 C T SNP PPP1R3D ENST00000370996 human ensembl 74_37 -1 known missense c.839 p.R280H 1.000 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3D HGNC ENSG00000132825 tier1 - - 28 0 0.00 23 6 20.69 PQLC1 0 genome.wustl.edu 37 18 77679354 77679354 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 18 77679354 77679354 G T SNP PQLC1 ENST00000397778 human ensembl 74_37 -1 known nonsense c.438 p.Y146* 0.995 NULL smart_CTNS - no_errors PQLC1 HGNC ENSG00000122490 58 0 0.00 56 3 5.08 PRG2 0 genome.wustl.edu 37 11 57157401 57157401 + Missense_Mutation SNP A A C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 57157401 57157401 A C SNP PRG2 ENST00000311862 human ensembl 74_37 -1 known missense c.17 p.L6R 0.950 prints_Eosinophil_major_basic pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic - no_errors PRG2 HGNC ENSG00000186652 17 0 0.00 26 3 10.34 PRSS55 0 genome.wustl.edu 37 8 10396231 10396231 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 8 10396231 10396231 G T SNP PRSS55 ENST00000328655 human ensembl 74_37 +1 known missense c.987 p.E329D 0.006 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS55 HGNC ENSG00000184647 35 0 0.00 25 3 10.71 PRUNE2 0 genome.wustl.edu 37 9 79465525 79465525 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 9 79465525 79465525 G T SNP PRUNE2 ENST00000376718 human ensembl 74_37 -1 novel missense c.198 p.F66L 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 tier1 - - 56 0 0.00 64 4 5.88 PSG6 0 genome.wustl.edu 37 19 43407843 43407843 + Missense_Mutation SNP C C G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 43407843 43407843 C G SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known missense c.1271 p.G424A 0.005 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 tier1 - - 116 0 0.00 97 12 11.01 PTPRC 0 genome.wustl.edu 37 1 198687417 198687417 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 198687417 198687417 G T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1645 p.D549Y 0.000 pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 30 0 0.00 52 3 5.36 PTPRH 0 genome.wustl.edu 37 19 55697635 55697635 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 55697635 55697635 G T SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.2736 p.S912R 0.902 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 83 0 0.00 50 4 7.41 PTPRT 0 genome.wustl.edu 37 20 40877452 40877452 + Silent SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 20 40877452 40877452 G T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.2244 p.T748 0.067 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 45 0 0.00 25 15 37.50 PURA 0 genome.wustl.edu 37 5 139494597 139494597 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 139494597 139494597 G T SNP PURA ENST00000331327 human ensembl 74_37 +1 known missense c.831 p.E277D 1.000 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURA HGNC ENSG00000185129 tier1 - - 55 0 0.00 43 4 8.51 PWWP2A 0 genome.wustl.edu 37 5 159520354 159520354 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 159520354 159520354 C T SNP PWWP2A ENST00000307063 human ensembl 74_37 -1 known missense c.1303 p.A435T 1.000 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2A HGNC ENSG00000170234 tier1 - - 48 0 0.00 41 6 12.77 QRICH2 0 genome.wustl.edu 37 17 74286138 74286138 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 74286138 74286138 C T SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known missense c.3235 p.E1079K 0.953 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 tier1 - - 22 0 0.00 6 8 57.14 RAB11FIP3 0 genome.wustl.edu 37 16 560667 560667 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 16 560667 560667 G A SNP RAB11FIP3 ENST00000457159 human ensembl 74_37 +1 known missense c.1642 p.A548T 1.000 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP3 HGNC ENSG00000090565 25 0 0.00 22 2 8.33 RARB 0 genome.wustl.edu 37 3 25216047 25216047 + Silent SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 3 25216047 25216047 C T SNP RARB ENST00000404969 human ensembl 74_37 +1 known silent c.159 p.C53 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 tier1 - - 38 0 0.00 35 4 10.26 RARG 0 genome.wustl.edu 37 12 53606933 53606933 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 12 53606933 53606933 G T SNP RARG ENST00000394426 human ensembl 74_37 -1 known missense c.1113 p.S371R 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 tier1 - - 47 0 0.00 25 4 13.79 RBBP6 0 genome.wustl.edu 37 16 24583538 24583538 + Silent SNP T T C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 16 24583538 24583538 T C SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known silent c.5151 p.S1717 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 35 0 0.00 38 3 7.32 RBM39 0 genome.wustl.edu 37 20 34297108 34297108 + RNA SNP C C G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 20 34297108 34297108 C G SNP RBM39 ENST00000475651 human ensembl 74_37 -1 putative rna NULL NULL 0.017 - - - no_errors RBM39 HGNC ENSG00000131051 tier1 - - 34 0 0.00 103 10 8.85 RBMS1 0 genome.wustl.edu 37 2 161349870 161349870 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 161349870 161349870 C T SNP RBMS1 ENST00000392753 human ensembl 74_37 -1 known missense c.5 p.G2D 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 tier1 - - 108 0 0.00 69 4 5.48 RECQL5 0 genome.wustl.edu 37 17 73662603 73662603 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 73662603 73662603 G A SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known missense c.35 p.P12L 0.995 NULL pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 tier1 - - 70 0 0.00 48 14 22.58 RERE 0 genome.wustl.edu 37 1 8416274 8416274 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 8416274 8416274 G T SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.4372 p.P1458T 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 tier1 - - 95 0 0.00 39 16 29.09 RPGRIP1 0 genome.wustl.edu 37 14 21790078 21790078 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 14 21790078 21790078 G T SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known missense c.1677 p.E559D 0.972 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 71 0 0.00 76 4 5.00 RSBN1 0 genome.wustl.edu 37 1 114340623 114340623 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 114340623 114340623 C T SNP RSBN1 ENST00000261441 human ensembl 74_37 -1 known missense c.739 p.D247N 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 32 0 0.00 30 2 6.25 RTL1 0 genome.wustl.edu 37 14 101348367 101348367 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 14 101348367 101348367 G T SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.2759 p.A920E 0.042 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 58 0 0.00 51 3 5.56 RYR1 0 genome.wustl.edu 37 19 38954120 38954120 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 38954120 38954120 G T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known nonsense c.2635 p.E879* 1.000 pfam_Ryanodine_rcpt,prints_Ryan_recept pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 67 0 0.00 52 4 7.14 SASS6 0 genome.wustl.edu 37 1 100575976 100575976 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 100575976 100575976 G T SNP SASS6 ENST00000287482 human ensembl 74_37 -1 known missense c.733 p.Q245K 0.239 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 tier1 - - 41 0 0.00 63 4 5.97 SCARF2 0 genome.wustl.edu 37 22 20781731 20781731 + Silent SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 22 20781731 20781731 C T SNP SCARF2 ENST00000405555 human ensembl 74_37 -1 known silent c.1647 p.S549 1.000 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 tier1 - - 48 0 0.00 28 6 17.65 SCN7A 0 genome.wustl.edu 37 2 167322481 167322481 + Silent SNP T T G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 167322481 167322481 T G SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known silent c.681 p.V227 0.492 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 25 0 0.00 23 7 23.33 SESN2 0 genome.wustl.edu 37 1 28601526 28601526 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 28601526 28601526 G T SNP SESN2 ENST00000253063 human ensembl 74_37 +1 known missense c.1211 p.R404I 1.000 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC ENSG00000130766 tier1 - - 33 0 0.00 26 4 13.33 SFTPB 0 genome.wustl.edu 37 2 85895264 85895266 + In_Frame_Del DEL GCA GCA - TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 85895264 85895266 GCA - DEL SFTPB ENST00000393822 human ensembl 74_37 -1 known in_frame_del c.79_77 p.L26in_frame_del 0.966:0.981:0.990 NULL pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin - no_errors SFTPB HGNC ENSG00000168878 tier1 32 0 0.00 18 3 14.29 SKAP2 0 genome.wustl.edu 37 7 26779515 26779515 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 26779515 26779515 G A SNP SKAP2 ENST00000345317 human ensembl 74_37 -1 known missense c.376 p.R126C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP2 HGNC ENSG00000005020 tier1 - - 72 0 0.00 95 10 9.52 SLC16A3 0 genome.wustl.edu 37 17 80196594 80196594 + Silent SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 80196594 80196594 G T SNP SLC16A3 ENST00000392339 human ensembl 74_37 +1 known silent c.1140 p.A380 0.866 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC ENSG00000141526 27 0 0.00 18 3 14.29 SLC9B1 0 genome.wustl.edu 37 4 103832695 103832695 + Splice_Site SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 4 103832695 103832695 C T SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known splice_site c.830-1 e7-1 0.993 - - - no_errors SLC9B1 HGNC ENSG00000164037 tier1 - - 54 0 0.00 75 10 11.76 SMC3 0 genome.wustl.edu 37 10 112341689 112341689 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 10 112341689 112341689 C T SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.556 p.R186W 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 tier1 - - 39 0 0.00 77 12 13.48 SNHG14 0 genome.wustl.edu 37 15 25304759 25304759 + RNA SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 15 25304759 25304759 G A SNP SNHG14 ENST00000384733 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 166 0 0.00 116 7 5.69 SNX27 0 genome.wustl.edu 37 1 151611494 151611494 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 151611494 151611494 G T SNP SNX27 ENST00000368843 human ensembl 74_37 +1 known missense c.442 p.D148Y 1.000 superfamily_Phox,superfamily_PDZ pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 45 0 0.00 56 3 5.08 SOX10 0 genome.wustl.edu 37 22 38379656 38379656 + Missense_Mutation SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 22 38379656 38379656 G C SNP SOX10 ENST00000360880 human ensembl 74_37 -1 known missense c.136 p.P46A 1.000 pfam_Sox_N pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX10 HGNC ENSG00000100146 tier1 - - 24 0 0.00 18 4 18.18 SPATA31D3 0 genome.wustl.edu 37 9 84564123 84564123 + RNA SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 9 84564123 84564123 G T SNP SPATA31D3 ENST00000334208 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SPATA31D3 HGNC ENSG00000186788 tier1 - - 77 0 0.00 50 4 7.41 SRSF3 0 genome.wustl.edu 37 6 36569506 36569506 + Silent SNP A A G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 36569506 36569506 A G SNP SRSF3 ENST00000373715 human ensembl 74_37 +1 known silent c.402 p.R134 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF3 HGNC ENSG00000112081 21 0 0.00 26 3 10.34 STARD13 0 genome.wustl.edu 37 13 33685025 33685025 + Missense_Mutation SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 13 33685025 33685025 G C SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.2627 p.A876G 0.999 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 70 0 0.00 51 7 11.86 STAT5A 0 genome.wustl.edu 37 17 40458274 40458274 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 17 40458274 40458274 G T SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known missense c.1489 p.A497S 0.997 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 tier1 - - 49 0 0.00 39 4 9.30 STRADB 0 genome.wustl.edu 37 2 202344861 202344861 + Missense_Mutation SNP A A G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 202344861 202344861 A G SNP STRADB ENST00000194530 human ensembl 74_37 +1 known missense c.1220 p.D407G 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADB HGNC ENSG00000082146 tier1 rs139900078 - 59 0 0.00 73 6 7.59 STRADB 0 genome.wustl.edu 37 2 202344886 202344886 + Silent SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 202344886 202344886 C T SNP STRADB ENST00000194530 human ensembl 74_37 +1 known silent c.1245 p.Y415 0.437 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADB HGNC ENSG00000082146 tier1 rs146098224 - 60 0 0.00 73 10 12.05 STT3B 0 genome.wustl.edu 37 3 31667586 31667586 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 3 31667586 31667586 G T SNP STT3B ENST00000295770 human ensembl 74_37 +1 known missense c.2040 p.R680S 0.999 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 tier1 - - 34 0 0.00 56 9 13.85 SYNE1 0 genome.wustl.edu 37 6 152655226 152655226 + Silent SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 152655226 152655226 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.12711 p.Q4237 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 52 0 0.00 53 5 8.62 SYT4 0 genome.wustl.edu 37 18 40854171 40854171 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 18 40854171 40854171 C T SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known missense c.223 p.A75T 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 tier1 - - 42 0 0.00 38 11 22.45 TAF3 0 genome.wustl.edu 37 10 8005922 8005922 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 10 8005922 8005922 C T SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.449 p.S150L 1.000 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 tier1 - - 28 0 0.00 19 7 26.92 TBC1D22B 0 genome.wustl.edu 37 6 37250673 37250673 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 37250673 37250673 G T SNP TBC1D22B ENST00000373491 human ensembl 74_37 +1 known missense c.617 p.C206F 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 tier1 - - 78 0 0.00 60 4 6.25 TCP10L2 0 genome.wustl.edu 37 6 167608917 167608917 + Silent SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 167608917 167608917 G A SNP TCP10L2 ENST00000283507 human ensembl 74_37 +1 known silent c.923 p.*308 0.995 NULL NULL - no_errors TCP10L2 HGNC ENSG00000166984 tier1 - - 100 0 0.00 135 11 7.53 TENM4 0 genome.wustl.edu 37 11 78387247 78387247 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 78387247 78387247 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5446 p.R1816C 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 84 0 0.00 58 12 17.14 TFDP1 0 genome.wustl.edu 37 13 114292205 114292205 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 13 114292205 114292205 C T SNP TFDP1 ENST00000375370 human ensembl 74_37 +1 known missense c.1079 p.S360F 1.000 pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP1 HGNC ENSG00000198176 tier1 - - 41 0 0.00 37 4 9.76 TG 0 genome.wustl.edu 37 8 133895118 133895118 + Missense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 8 133895118 133895118 C A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.949 p.P317T 0.997 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 74 0 0.00 64 4 5.88 THNSL2 0 genome.wustl.edu 37 2 88484950 88484950 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 88484950 88484950 C T SNP THNSL2 ENST00000324166 human ensembl 74_37 +1 known missense c.1181 p.A394V 0.990 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like - no_errors THNSL2 HGNC ENSG00000144115 tier1 - - 55 0 0.00 48 4 7.69 TMEM63A 0 genome.wustl.edu 37 1 226041407 226041407 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 226041407 226041407 G A SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known missense c.1720 p.R574W 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 tier1 - - 74 0 0.00 51 4 7.27 TMEM75 0 genome.wustl.edu 37 8 128960221 128960221 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 8 128960221 128960221 G T SNP TMEM75 ENST00000539634 human ensembl 74_37 -1 known missense c.60 p.D20E 0.100 NULL NULL - no_errors TMEM75 HGNC ENSG00000256655 tier1 - - 28 0 0.00 58 4 6.45 TNFRSF1A 0 genome.wustl.edu 37 12 6442549 6442549 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 12 6442549 6442549 C T SNP TNFRSF1A ENST00000534885 human ensembl 74_37 -1 known missense c.302 p.G101E 0.994 NULL NULL - no_errors TNFRSF1A HGNC ENSG00000067182 tier1 - - 26 0 0.00 9 4 30.77 TNFSF4 0 genome.wustl.edu 37 1 173155952 173155952 + Silent SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 173155952 173155952 G T SNP TNFSF4 ENST00000281834 human ensembl 74_37 -1 known silent c.255 p.I85 0.023 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom - no_errors TNFSF4 HGNC ENSG00000117586 24 0 0.00 34 2 5.56 TOP2B 0 genome.wustl.edu 37 3 25651146 25651146 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 3 25651146 25651146 G T SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.3844 p.P1282T 0.984 NULL pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 34 0 0.00 46 3 6.12 TPP2 0 genome.wustl.edu 37 13 103301427 103301427 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 13 103301427 103301427 G T SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.2799 p.K933N 1.000 pfam_Peptidase_S8A_TPPII pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 26 0 0.00 67 4 5.63 TRAF3IP2 0 genome.wustl.edu 37 6 111887731 111887731 + Silent SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 111887731 111887731 G T SNP TRAF3IP2 ENST00000340026 human ensembl 74_37 -1 known silent c.1419 p.P473 1.000 pfam_SEFIR pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 tier1 - - 91 0 0.00 66 4 5.71 TRAF3IP2 0 genome.wustl.edu 37 6 111884188 111884188 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 111884188 111884188 G A SNP TRAF3IP2 ENST00000340026 human ensembl 74_37 -1 known missense c.1558 p.L520F 1.000 pfam_SEFIR pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 25 0 0.00 30 2 6.06 TRIM15 0 genome.wustl.edu 37 6 30131704 30131705 + Frame_Shift_Del DEL TT TT - TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 6 30131704 30131705 TT - DEL TRIM15 ENST00000376694 human ensembl 74_37 +1 known frame_shift_del c.243_244 p.Y82fs 0.000:0.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM15 HGNC ENSG00000204610 tier1 40 0 0.00 39 4 9.30 TRIM2 0 genome.wustl.edu 37 4 154236987 154236987 + Frame_Shift_Del DEL T T - TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 4 154236987 154236987 T - DEL TRIM2 ENST00000338700 human ensembl 74_37 +1 known frame_shift_del c.1618 p.S541fs 1.000 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 tier1 26 0 0.00 16 2 11.11 TRIM49B 0 genome.wustl.edu 37 11 49053162 49053162 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 49053162 49053162 G T SNP TRIM49B ENST00000332682 human ensembl 74_37 +1 known missense c.11 p.G4V 0.145 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49B HGNC ENSG00000182053 tier1 - - 188 0 0.00 170 39 18.66 TRIM64B 0 genome.wustl.edu 37 11 89603859 89603859 + Missense_Mutation SNP A A C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 89603859 89603859 A C SNP TRIM64B ENST00000329862 human ensembl 74_37 -1 known missense c.1280 p.L427R 0.224 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64B HGNC ENSG00000189253 tier1 - - 97 0 0.00 132 20 13.16 TRPA1 0 genome.wustl.edu 37 8 72981315 72981315 + Missense_Mutation SNP G G C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 8 72981315 72981315 G C SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.387 p.F129L 0.757 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 69 0 0.00 64 10 13.51 TRPM4 0 genome.wustl.edu 37 19 49703625 49703625 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 49703625 49703625 G T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.2714 p.R905L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 tier1 - - 45 0 0.00 18 10 35.71 TRPS1 0 genome.wustl.edu 37 8 116632015 116632015 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 8 116632015 116632015 G T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.310 p.P104T 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 39 0 0.00 34 2 5.56 TTC14 0 genome.wustl.edu 37 3 180320998 180320998 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 3 180320998 180320998 C T SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known missense c.373 p.R125C 1.000 superfamily_NA-bd_OB-fold pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 tier1 - - 46 0 0.00 36 4 10.00 UGT1A4 0 genome.wustl.edu 37 2 234628062 234628062 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 234628062 234628062 C T SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known missense c.596 p.T199M 0.022 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 tier1 - - 118 0 0.00 90 23 20.35 UNC13A 0 genome.wustl.edu 37 19 17778978 17778978 + Missense_Mutation SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 17778978 17778978 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.680 p.R227H 0.994 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 52 0 0.00 47 7 12.73 USP14 0 genome.wustl.edu 37 18 197625 197625 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 18 197625 197625 G T SNP USP14 ENST00000261601 human ensembl 74_37 +1 known nonsense c.604 p.E202* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 32 0 0.00 29 3 9.38 USP28 0 genome.wustl.edu 37 11 113683093 113683093 + Missense_Mutation SNP C C G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 11 113683093 113683093 C G SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.1877 p.W626S 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 tier1 - - 34 0 0.00 40 10 20.00 USP9Y 0 genome.wustl.edu 37 Y 14821396 14821396 + Missense_Mutation SNP C C G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 Y 14821396 14821396 C G SNP USP9Y ENST00000338981 human ensembl 74_37 +1 known missense c.16 p.H6D 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 tier1 - - 17 0 0.00 15 6 28.57 VEGFC 0 genome.wustl.edu 37 4 177632662 177632662 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 4 177632662 177632662 G T SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.695 p.T232K 0.874 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 tier1 - - 49 0 0.00 62 4 6.06 WBP4 0 genome.wustl.edu 37 13 41642797 41642797 + Silent SNP A A G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 13 41642797 41642797 A G SNP WBP4 ENST00000379487 human ensembl 74_37 +1 known silent c.363 p.K121 0.981 NULL pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin - no_errors WBP4 HGNC ENSG00000120688 tier1 - - 33 0 0.00 56 4 6.67 WBSCR17 0 genome.wustl.edu 37 7 70886046 70886046 + Missense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 70886046 70886046 C A SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.917 p.P306H 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 51 0 0.00 49 4 7.55 XBP1 0 genome.wustl.edu 37 22 29191375 29191375 + Missense_Mutation SNP C C G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 22 29191375 29191375 C G SNP XBP1 ENST00000344347 human ensembl 74_37 -1 known missense c.919 p.E307Q 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors XBP1 HGNC ENSG00000100219 tier1 - - 60 0 0.00 59 6 9.23 XIRP2 0 genome.wustl.edu 37 2 168067378 168067378 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 2 168067378 168067378 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.696 p.R232S 0.993 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 51 0 0.00 29 4 12.12 YTHDC2 0 genome.wustl.edu 37 5 112889642 112889642 + Missense_Mutation SNP C C G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 5 112889642 112889642 C G SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known missense c.2056 p.L686V 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 tier1 - - 19 0 0.00 26 10 27.78 YWHAG 0 genome.wustl.edu 37 7 75959220 75959220 + Nonsense_Mutation SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 7 75959220 75959220 C A SNP YWHAG ENST00000307630 human ensembl 74_37 -1 known nonsense c.418 p.G140* 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAG HGNC ENSG00000170027 35 0 0.00 54 4 6.78 ZMYM3 0 genome.wustl.edu 37 X 70471418 70471418 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 X 70471418 70471418 G T SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.701 p.P234Q 0.992 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 45 0 0.00 57 3 5.00 ZNF160 0 genome.wustl.edu 37 19 53571671 53571671 + Nonsense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 53571671 53571671 G A SNP ZNF160 ENST00000418871 human ensembl 74_37 -1 known nonsense c.2116 p.R706* 0.052 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 ZNF160 HGNC ENSG00000170949 tier1 - - 80 0 0.00 63 9 12.50 ZNF254 0 genome.wustl.edu 37 19 24309076 24309076 + Missense_Mutation SNP C C G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 24309076 24309076 C G SNP ZNF254 ENST00000357002 human ensembl 74_37 +1 known missense c.274 p.Q92E 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 ZNF254 HGNC ENSG00000213096 tier1 - - 43 0 0.00 44 12 21.43 ZNF420 0 genome.wustl.edu 37 19 37621074 37621074 + Missense_Mutation SNP T T A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 37621074 37621074 T A SNP ZNF420 ENST00000304239 human ensembl 74_37 +1 putative missense c.1547 p.F516Y 0.005 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 ZNF420 HGNC ENSG00000197050 tier1 - - 62 0 0.00 48 12 20.00 ZNF423 0 genome.wustl.edu 37 16 49669911 49669911 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 16 49669911 49669911 G A SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.3152 p.A1051V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 44 0 0.00 30 11 26.83 ZNF534 0 genome.wustl.edu 37 19 52942558 52942558 + Silent SNP C C T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 52942558 52942558 C T SNP ZNF534 ENST00000332323 human ensembl 74_37 +1 known silent c.1884 p.F628 0.009 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 ZNF534 HGNC ENSG00000198633 tier1 - - 57 0 0.00 39 22 36.07 ZNF697 0 genome.wustl.edu 37 1 120165530 120165530 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 1 120165530 120165530 G T SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known missense c.1436 p.T479K 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 49 0 0.00 47 3 6.00 ZNF730 0 genome.wustl.edu 37 19 23329258 23329258 + Missense_Mutation SNP A A C TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 23329258 23329258 A C SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.1412 p.K471T 0.981 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 ZNF730 HGNC ENSG00000183850 tier1 - - 34 0 0.00 43 7 14.00 ZNF99 0 genome.wustl.edu 37 19 22940554 22940554 + Silent SNP A A G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a11a03e7-daed-4928-91bd-6e39606e95be d6ddfca3-2910-436f-be68-5307de6276a1 19 22940554 22940554 A G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known silent c.1884 p.T628 0.001 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 ZNF99 HGNC ENSG00000213973 24 0 0.00 39 4 9.30