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 ADD2 0 genome.wustl.edu 37 2 70905912 70905912 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 2 70905912 70905912 G A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.1307 p.T436M 0.990 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 tier1 rs201022450 - 59 0 0.00 28 7 20.00 ANKS1B 0 genome.wustl.edu 37 12 100205934 100205934 + Missense_Mutation SNP T T C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 12 100205934 100205934 T C SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.371 p.Q124R 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 tier1 - - 60 0 0.00 70 5 6.67 ASCC3 0 genome.wustl.edu 37 6 101103625 101103625 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 6 101103625 101103625 G A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.2773 p.R925W 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 17 0 0.00 14 2 12.50 ASPM 0 genome.wustl.edu 37 1 197057452 197057452 + Silent SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 1 197057452 197057452 G T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known silent c.10095 p.G3365 0.856 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 33 0 0.00 43 3 6.52 ATHL1 0 genome.wustl.edu 37 11 292904 292904 + Nonsense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 11 292904 292904 G T SNP ATHL1 ENST00000409548 human ensembl 74_37 +1 known nonsense c.1177 p.E393* 0.589 pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 tier1 - - 53 0 0.00 44 4 8.33 BMS1P18 0 genome.wustl.edu 37 14 19904273 19904273 + RNA SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 14 19904273 19904273 C T SNP BMS1P18 ENST00000549877 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P18 HGNC ENSG00000215394 tier1 - - 60 0 0.00 35 9 20.45 C10orf112 0 genome.wustl.edu 37 10 19569057 19569057 + Missense_Mutation SNP A A C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 10 19569057 19569057 A C SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known missense c.1049 p.E350A 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 30 0 0.00 13 14 51.85 CALM3 0 genome.wustl.edu 37 19 47112420 47112420 + RNA SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 19 47112420 47112420 G A SNP CALM3 ENST00000477244 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CALM3 HGNC ENSG00000160014 tier1 - - 61 0 0.00 30 23 43.40 CASP12 0 genome.wustl.edu 37 11 104761930 104761930 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 11 104761930 104761930 G A SNP CASP12 ENST00000375726 human ensembl 74_37 -1 known missense c.634 p.P212S 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP12 HGNC ENSG00000204403 tier1 - - 63 0 0.00 42 10 19.23 CCDC62 0 genome.wustl.edu 37 12 123285733 123285733 + Missense_Mutation SNP A A C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 12 123285733 123285733 A C SNP CCDC62 ENST00000253079 human ensembl 74_37 +1 known missense c.1040 p.K347T 0.994 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 tier1 - - 32 0 0.00 23 15 39.47 CCL20 0 genome.wustl.edu 37 2 228680154 228680154 + RNA DEL T T - TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 2 228680154 228680154 T - DEL CCL20 ENST00000473642 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CCL20 HGNC ENSG00000115009 tier1 8 0 0.00 10 2 16.67 CD1B 0 genome.wustl.edu 37 1 158299185 158299185 + Missense_Mutation SNP C C A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 1 158299185 158299185 C A SNP CD1B ENST00000368168 human ensembl 74_37 -1 known missense c.861 p.E287D 0.113 pfam_Ig_C1-set,smart_Ig_C1-set pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1B HGNC ENSG00000158485 tier1 - - 50 0 0.00 38 11 22.45 CDH9 0 genome.wustl.edu 37 5 26915767 26915767 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 5 26915767 26915767 G T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.494 p.T165N 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 19 0 0.00 8 3 27.27 CLDN16 0 genome.wustl.edu 37 3 190127745 190127745 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 3 190127745 190127745 G A SNP CLDN16 ENST00000264734 human ensembl 74_37 +1 known missense c.838 p.A280T 0.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 tier1 - - 63 0 0.00 47 11 18.97 COL4A5 0 genome.wustl.edu 37 X 107802335 107802335 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 X 107802335 107802335 G T SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.183 p.L61F 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 14 0 0.00 18 5 21.74 CSN3 0 genome.wustl.edu 37 4 71114982 71114982 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 4 71114982 71114982 G T SNP CSN3 ENST00000304954 human ensembl 74_37 +1 known missense c.355 p.A119S 0.005 pfam_Casein_kappa,pirsf_Casein_kappa pfam_Casein_kappa,pirsf_Casein_kappa - no_errors CSN3 HGNC ENSG00000171209 tier1 - - 29 0 0.00 15 4 21.05 CTSK 0 genome.wustl.edu 37 1 150779260 150779260 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 1 150779260 150779260 G T SNP CTSK ENST00000271651 human ensembl 74_37 -1 known missense c.22 p.L8M 0.555 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSK HGNC ENSG00000143387 tier1 - - 43 0 0.00 26 5 16.13 CYB5RL 0 genome.wustl.edu 37 1 54640442 54640442 + Silent SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 1 54640442 54640442 G A SNP CYB5RL ENST00000419823 human ensembl 74_37 -1 known silent c.798 p.G266 1.000 pfam_OxRdtase_FAD/NAD-bd pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase - no_errors CYB5RL HGNC ENSG00000215883 tier1 - - 39 0 0.00 74 4 5.13 CYP4F8 0 genome.wustl.edu 37 19 15726500 15726500 + RNA SNP G G C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 19 15726500 15726500 G C SNP CYP4F8 ENST00000325723 human ensembl 74_37 +1 known rna NULL NULL 0.934 - - - no_errors CYP4F8 HGNC ENSG00000186526 tier1 - - 78 0 0.00 56 19 25.33 DCC 0 genome.wustl.edu 37 18 50961530 50961530 + Silent SNP A A C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 18 50961530 50961530 A C SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3180 p.G1060 0.997 NULL pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 35 0 0.00 14 19 57.58 DENND1A 0 genome.wustl.edu 37 9 126144060 126144060 + Missense_Mutation SNP T T G TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 9 126144060 126144060 T G SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known missense c.2714 p.N905T 0.994 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 tier1 - - 82 0 0.00 66 9 12.00 DNA2 0 genome.wustl.edu 37 10 70231769 70231770 + Frame_Shift_Ins INS - - GT TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 10 70231769 70231770 - GT INS DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_ins c.111_110 p.P38fs 0.000:0.000 NULL pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 tier1 31 0 0.00 7 2 22.22 DNAH9 0 genome.wustl.edu 37 17 11757419 11757419 + Missense_Mutation SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 17 11757419 11757419 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.9607 p.P3203S 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 DNAH9 HGNC ENSG00000007174 tier1 - - 44 0 0.00 28 8 22.22 DNM1P46 0 genome.wustl.edu 37 15 100331592 100331592 + RNA SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 15 100331592 100331592 G A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 - - 35 0 0.00 24 9 27.27 DYSF 0 genome.wustl.edu 37 2 71755483 71755483 + Silent SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 2 71755483 71755483 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.1329 p.K443 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 49 0 0.00 34 6 15.00 ECEL1 0 genome.wustl.edu 37 2 233349744 233349744 + Missense_Mutation SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 2 233349744 233349744 C T SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.913 p.A305T 0.001 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 tier1 - - 31 0 0.00 22 8 26.67 ELF2 0 genome.wustl.edu 37 4 140046348 140046348 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 4 140046348 140046348 G T SNP ELF2 ENST00000379550 human ensembl 74_37 -1 known missense c.208 p.Q70K 1.000 pfam_TF_Elf_N pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF2 HGNC ENSG00000109381 48 0 0.00 29 2 6.45 ELOVL3 0 genome.wustl.edu 37 10 103988606 103988606 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 10 103988606 103988606 G A SNP ELOVL3 ENST00000370005 human ensembl 74_37 +1 known missense c.410 p.R137H 0.995 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL3 HGNC ENSG00000119915 tier1 rs149375895 - 50 0 0.00 20 8 28.57 ENSG00000232807 0 genome.wustl.edu 37 10 5978975 5978975 + RNA SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 10 5978975 5978975 G T SNP ENSG00000232807 ENST00000397264 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-536K7.3 Clone_based_vega_gene ENSG00000232807 tier1 - - 84 0 0.00 69 4 5.48 FAM71E2 0 genome.wustl.edu 37 19 55869940 55869940 + Nonsense_Mutation SNP T T A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 19 55869940 55869940 T A SNP FAM71E2 ENST00000424985 human ensembl 74_37 -1 novel nonsense c.2296 p.K766* 0.023 NULL pfam_DUF3699 - no_errors FAM71E2 HGNC ENSG00000180043 tier1 - - 61 0 0.00 69 8 10.39 FANCM 0 genome.wustl.edu 37 14 45623962 45623962 + Silent SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 14 45623962 45623962 C T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known silent c.1246 p.L416 1.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 38 0 0.00 27 11 28.95 FSCN2 0 genome.wustl.edu 37 17 79502077 79502077 + Splice_Site SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 17 79502077 79502077 G T SNP FSCN2 ENST00000334850 human ensembl 74_37 +1 known splice_site c.827-1 e2-1 1.000 - - - no_errors FSCN2 HGNC ENSG00000186765 14 0 0.00 12 4 23.53 GBX2 0 genome.wustl.edu 37 2 237074959 237074959 + Silent SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 2 237074959 237074959 G T SNP GBX2 ENST00000306318 human ensembl 74_37 -1 known silent c.645 p.G215 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 32 0 0.00 19 4 17.39 GLIPR1L2 0 genome.wustl.edu 37 12 75804346 75804346 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 12 75804346 75804346 G T SNP GLIPR1L2 ENST00000550916 human ensembl 74_37 +1 known missense c.367 p.G123C 0.988 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 37 0 0.00 35 2 5.41 GON4L 0 genome.wustl.edu 37 1 155785777 155785777 + RNA DEL A A - TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 1 155785777 155785777 A - DEL GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GON4L HGNC ENSG00000116580 tier1 16 0 0.00 26 6 18.75 GRIN2A 0 genome.wustl.edu 37 16 9943750 9943750 + Silent SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 16 9943750 9943750 G A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.1191 p.S397 0.001 NULL pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 43 0 0.00 33 3 8.33 HADHA 0 genome.wustl.edu 37 2 26437990 26437990 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 2 26437990 26437990 G T SNP HADHA ENST00000380649 human ensembl 74_37 -1 known missense c.731 p.A244E 1.000 tigrfam_Fa_ox_alpha_mit pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit - no_errors HADHA HGNC ENSG00000084754 40 0 0.00 29 3 9.38 HHIP 0 genome.wustl.edu 37 4 145633170 145633171 + Frame_Shift_Ins INS - - A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 4 145633170 145633171 - A INS HHIP ENST00000296575 human ensembl 74_37 +1 known frame_shift_ins c.1370_1371 p.N459fs 1.000:0.998 NULL pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 tier1 59 0 0.00 35 11 23.91 HIVEP2 0 genome.wustl.edu 37 6 143092631 143092631 + Missense_Mutation SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 6 143092631 143092631 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.3245 p.R1082Q 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 tier1 - - 30 0 0.00 21 11 34.38 HIVEP2 0 genome.wustl.edu 37 6 143094119 143094119 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 6 143094119 143094119 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.1757 p.P586L 0.995 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 14 0 0.00 16 3 15.79 HYDIN 0 genome.wustl.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 16 71054178 71054178 T C SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.3085 p.I1029V 0.589 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 47 0 0.00 45 3 6.25 IRX5 0 genome.wustl.edu 37 16 54966722 54966722 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 16 54966722 54966722 G A SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known missense c.562 p.E188K 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 tier1 - - 71 0 0.00 38 14 26.92 ITPR2 0 genome.wustl.edu 37 12 26551892 26551892 + Missense_Mutation SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 12 26551892 26551892 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.7613 p.G2538D 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 40 0 0.00 23 2 8.00 KDELC1 0 genome.wustl.edu 37 13 103443257 103443257 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 13 103443257 103443257 G T SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known missense c.1077 p.F359L 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 tier1 - - 24 0 0.00 20 4 16.67 KIF1A 0 genome.wustl.edu 37 2 241680691 241680691 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 2 241680691 241680691 G T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.3744 p.N1248K 0.652 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 22 0 0.00 13 3 18.75 KLHL32 0 genome.wustl.edu 37 6 97512566 97512566 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 6 97512566 97512566 G T SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known missense c.375 p.L125F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL32 HGNC ENSG00000186231 tier1 - - 39 0 0.00 34 4 10.53 KMT2C 0 genome.wustl.edu 37 7 151848559 151848559 + Nonsense_Mutation SNP T T A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 7 151848559 151848559 T A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.12805 p.K4269* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 33 0 0.00 5 12 70.59 LFNG 0 genome.wustl.edu 37 7 2565992 2565992 + Silent SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 7 2565992 2565992 C T SNP LFNG ENST00000222725 human ensembl 74_37 +1 known silent c.936 p.H312 1.000 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors LFNG HGNC ENSG00000106003 tier1 - - 39 0 0.00 37 11 22.92 LOC100509091 0 genome.wustl.edu 37 X 152752248 152752248 + Missense_Mutation SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 X 152752248 152752248 C T SNP LOC100509091 ENST00000428676 human ensembl 74_37 +1 putative missense c.358 p.R120W 0.008 NULL pfam_Leu-rich_rpt - no_errors U82695.9 Clone_based_vega_gene ENSG00000224963 tier1 - - 24 0 0.00 11 28 71.79 LRRN1 0 genome.wustl.edu 37 3 3886551 3886551 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 3 3886551 3886551 G T SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.226 p.V76L 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN1 HGNC ENSG00000175928 tier1 - - 35 0 0.00 20 10 33.33 MAP3K5 0 genome.wustl.edu 37 6 137018434 137018434 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 6 137018434 137018434 G A SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.898 p.R300W 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,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 MAP3K5 HGNC ENSG00000197442 tier1 - - 29 0 0.00 18 9 33.33 MAPK15 0 genome.wustl.edu 37 8 144804294 144804294 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 8 144804294 144804294 G A SNP MAPK15 ENST00000338033 human ensembl 74_37 +1 known missense c.1508 p.S503N 0.012 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 MAPK15 HGNC ENSG00000181085 tier1 - - 35 0 0.00 9 4 30.77 MEGF8 0 genome.wustl.edu 37 19 42875612 42875612 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 19 42875612 42875612 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.7247 p.R2416H 1.000 smart_EG-like_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 39 0 0.00 36 2 5.26 MIDN 0 genome.wustl.edu 37 19 1255011 1255011 + Silent SNP C C A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 19 1255011 1255011 C A SNP MIDN ENST00000300952 human ensembl 74_37 +1 known silent c.807 p.I269 0.994 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors MIDN HGNC ENSG00000167470 tier1 - - 47 0 0.00 6 7 53.85 MIPEP 0 genome.wustl.edu 37 13 24444223 24444223 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 13 24444223 24444223 G A SNP MIPEP ENST00000382172 human ensembl 74_37 -1 known missense c.715 p.R239C 0.687 NULL pfam_Pept_M3A_M3B - no_errors MIPEP HGNC ENSG00000027001 tier1 - - 57 0 0.00 47 9 16.07 MOV10 0 genome.wustl.edu 37 1 113234375 113234375 + Nonsense_Mutation SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 1 113234375 113234375 C T SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known nonsense c.925 p.Q309* 1.000 NULL superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 tier1 - - 79 0 0.00 42 14 25.00 MT-RNR1 0 genome.wustl.edu 37 MT 1204 1204 + RNA SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 MT 1204 1204 C T SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 24 0 0.00 4 2 33.33 MTMR10 0 genome.wustl.edu 37 15 31253135 31253135 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 15 31253135 31253135 G T SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known missense c.707 p.A236D 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 tier1 - - 77 0 0.00 43 4 8.51 MUC16 0 genome.wustl.edu 37 19 9069914 9069914 + Silent SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 19 9069914 9069914 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.17532 p.I5844 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 106 0 0.00 65 17 20.73 MUC4 0 genome.wustl.edu 37 3 195481170 195481170 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 3 195481170 195481170 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.15242 p.P5081L 0.000 smart_EG-like_dom pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 63 0 0.00 31 16 34.04 MUC5B 0 genome.wustl.edu 37 11 1267550 1267550 + Missense_Mutation SNP C C G TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 11 1267550 1267550 C G SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.9449 p.A3150G 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 91 0 0.00 42 4 8.51 MYD88 0 genome.wustl.edu 37 3 38180161 38180161 + Silent SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 3 38180161 38180161 C T SNP MYD88 ENST00000417037 human ensembl 74_37 +1 known silent c.9 p.P3 0.000 NULL pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 tier1 - - 33 0 0.00 16 10 38.46 MYH7 0 genome.wustl.edu 37 14 23891482 23891482 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 14 23891482 23891482 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.3152 p.A1051V 0.995 superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 79 0 0.00 54 4 6.90 MYO1F 0 genome.wustl.edu 37 19 8592306 8592306 + Missense_Mutation SNP A A G TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 19 8592306 8592306 A G SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.2390 p.V797A 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 tier1 - - 63 0 0.00 30 13 30.23 NEB 0 genome.wustl.edu 37 2 152402931 152402931 + Silent SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 2 152402931 152402931 G T SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.20394 p.V6798 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 19 0 0.00 36 3 7.69 NEDD4L 0 genome.wustl.edu 37 18 56002725 56002725 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 18 56002725 56002725 G T SNP NEDD4L ENST00000400345 human ensembl 74_37 +1 known missense c.1081 p.G361W 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 39 0 0.00 28 2 6.67 NKD2 0 genome.wustl.edu 37 5 1037676 1037676 + Missense_Mutation SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 5 1037676 1037676 C T SNP NKD2 ENST00000537972 human ensembl 74_37 +1 known missense c.829 p.H277Y 0.002 NULL pfscan_EF_hand_dom - no_errors NKD2 HGNC ENSG00000145506 tier1 - - 45 0 0.00 16 7 30.43 NRXN3 0 genome.wustl.edu 37 14 80327445 80327445 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 14 80327445 80327445 G A SNP NRXN3 ENST00000557594 human ensembl 74_37 +1 novel missense c.1052 p.R351H 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 69 0 0.00 57 4 6.56 NUP54 0 genome.wustl.edu 37 4 77055514 77055514 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 4 77055514 77055514 G T SNP NUP54 ENST00000264883 human ensembl 74_37 -1 known missense c.524 p.A175E 1.000 NULL NULL - no_errors NUP54 HGNC ENSG00000138750 tier1 - - 39 0 0.00 20 3 13.04 OR10A5 0 genome.wustl.edu 37 11 6867799 6867799 + Missense_Mutation SNP A A T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 11 6867799 6867799 A T SNP OR10A5 ENST00000379831 human ensembl 74_37 +1 known missense c.898 p.S300C 0.999 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A5 HGNC ENSG00000166363 tier1 - - 31 0 0.00 27 10 27.03 OR4A47 0 genome.wustl.edu 37 11 48510925 48510925 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 11 48510925 48510925 G T SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known missense c.581 p.G194V 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A47 HGNC ENSG00000237388 65 0 0.00 50 3 5.66 OR4D2 0 genome.wustl.edu 37 17 56247408 56247408 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 17 56247408 56247408 G A SNP OR4D2 ENST00000545221 human ensembl 74_37 +1 known missense c.392 p.R131H 1.000 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 OR4D2 HGNC ENSG00000255713 tier1 rs147819968 - 46 0 0.00 21 21 50.00 OR5M9 0 genome.wustl.edu 37 11 56230100 56230100 + Missense_Mutation SNP T T C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 11 56230100 56230100 T C SNP OR5M9 ENST00000279791 human ensembl 74_37 -1 known missense c.778 p.R260G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M9 HGNC ENSG00000150269 tier1 - - 58 0 0.00 35 8 18.18 PCDH15 0 genome.wustl.edu 37 10 55782711 55782711 + Missense_Mutation SNP T T G TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 10 55782711 55782711 T G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.2467 p.T823P 0.954 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 56 0 0.00 20 14 40.00 PCDHAC2 0 genome.wustl.edu 37 5 140347423 140347423 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 5 140347423 140347423 G A SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.1072 p.V358M 1.000 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 tier1 - - 52 0 0.00 37 4 9.76 PCSK2 0 genome.wustl.edu 37 20 17462531 17462531 + Missense_Mutation SNP C C G TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 20 17462531 17462531 C G SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known missense c.1733 p.A578G 0.009 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 tier1 - - 27 0 0.00 32 9 21.95 PDCD5 0 genome.wustl.edu 37 19 33076747 33076747 + Silent SNP T T C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 19 33076747 33076747 T C SNP PDCD5 ENST00000590247 human ensembl 74_37 +1 known silent c.192 p.P64 0.977 pfam_PDCD5-related,superfamily_PDCD5-related,pirsf_PDCD5-related pfam_PDCD5-related,superfamily_PDCD5-related,pirsf_PDCD5-related - no_errors PDCD5 HGNC ENSG00000105185 tier1 - - 32 0 0.00 51 4 7.27 PDDC1 0 genome.wustl.edu 37 11 771164 771164 + RNA SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 11 771164 771164 G T SNP PDDC1 ENST00000529966 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDDC1 HGNC ENSG00000177225 tier1 - - 65 0 0.00 49 4 7.55 PDXK 0 genome.wustl.edu 37 21 45175962 45175962 + RNA SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 21 45175962 45175962 C T SNP PDXK ENST00000343528 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PDXK HGNC ENSG00000160209 tier1 - - 70 0 0.00 40 8 16.67 PHF12 0 genome.wustl.edu 37 17 27233372 27233372 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 17 27233372 27233372 G T SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known missense c.2844 p.H948Q 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 tier1 - - 26 0 0.00 29 8 21.62 PHRF1 0 genome.wustl.edu 37 11 597555 597555 + Silent SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 11 597555 597555 G A SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known silent c.879 p.T293 0.013 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 37 0 0.00 14 6 30.00 PIGQ 0 genome.wustl.edu 37 16 630954 630954 + Missense_Mutation SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 16 630954 630954 C T SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known missense c.1513 p.R505W 1.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 69 0 0.00 45 4 8.16 PIK3R1 0 genome.wustl.edu 37 5 67589537 67589537 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 5 67589537 67589537 G A SNP PIK3R1 ENST00000396611 human ensembl 74_37 +1 known missense c.1300 p.D434N 1.000 superfamily_Guanylate-bd_C,prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 tier1 - - 31 0 0.00 19 6 24.00 PODNL1 0 genome.wustl.edu 37 19 14044768 14044768 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 19 14044768 14044768 G T SNP PODNL1 ENST00000339560 human ensembl 74_37 -1 known missense c.711 p.S237R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors PODNL1 HGNC ENSG00000132000 61 0 0.00 36 4 10.00 PRNT 0 genome.wustl.edu 37 20 4713189 4713189 + Missense_Mutation SNP G G C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 20 4713189 4713189 G C SNP PRNT ENST00000326539 human ensembl 74_37 -1 known missense c.134 p.T45R 0.000 NULL NULL - no_errors PRNT HGNC ENSG00000180259 tier1 - - 89 0 0.00 125 8 6.02 PSG3 0 genome.wustl.edu 37 19 43228177 43228177 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 19 43228177 43228177 G T SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.1244 p.A415D 0.296 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 tier1 - - 57 0 0.00 31 16 34.04 PXDN 0 genome.wustl.edu 37 2 1677547 1677547 + Missense_Mutation SNP A A C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 2 1677547 1677547 A C SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.886 p.L296V 0.617 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 84 0 0.00 58 24 29.27 RAF1 0 genome.wustl.edu 37 3 12632438 12632438 + Missense_Mutation SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 3 12632438 12632438 C T SNP RAF1 ENST00000442415 human ensembl 74_37 -1 known missense c.1289 p.G430E 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_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 RAF1 HGNC ENSG00000132155 65 0 0.00 64 4 5.88 RAI14 0 genome.wustl.edu 37 5 34823711 34823711 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 5 34823711 34823711 G T SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known missense c.1773 p.E591D 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 27 0 0.00 24 2 7.69 RNASEL 0 genome.wustl.edu 37 1 182550476 182550476 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 1 182550476 182550476 G A SNP RNASEL ENST00000367559 human ensembl 74_37 -1 known missense c.1789 p.R597W 0.055 pfam_KEN_dom pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC ENSG00000135828 tier1 - - 58 0 0.00 26 12 31.58 RPL41 0 genome.wustl.edu 37 12 56510561 56510561 + RNA SNP A A G TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 12 56510561 56510561 A G SNP RPL41 ENST00000358888 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors RPL41 HGNC ENSG00000229117 tier1 - - 68 0 0.00 58 6 9.38 RPUSD2 0 genome.wustl.edu 37 15 40861777 40861777 + Missense_Mutation SNP C C G TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 15 40861777 40861777 C G SNP RPUSD2 ENST00000315616 human ensembl 74_37 +1 known missense c.241 p.P81A 0.003 NULL pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 tier1 - - 25 0 0.00 34 8 19.05 SCFD1 0 genome.wustl.edu 37 14 31107338 31107338 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 14 31107338 31107338 G T SNP SCFD1 ENST00000458591 human ensembl 74_37 +1 known missense c.320 p.R107L 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD1 HGNC ENSG00000092108 65 0 0.00 36 2 5.26 SGSM2 0 genome.wustl.edu 37 17 2266394 2266394 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 17 2266394 2266394 G A SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.638 p.R213H 0.988 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 tier1 - - 55 0 0.00 11 11 50.00 SIPA1L2 0 genome.wustl.edu 37 1 232650479 232650479 + Silent SNP A A G TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 1 232650479 232650479 A G SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known silent c.607 p.L203 0.233 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 21 0 0.00 17 3 15.00 SLC35G5 0 genome.wustl.edu 37 8 11188922 11188922 + Missense_Mutation SNP T T C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 8 11188922 11188922 T C SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known missense c.307 p.W103R 0.984 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 tier1 rs76944947 - 96 0 0.00 83 7 7.78 SMAD1 0 genome.wustl.edu 37 4 146435831 146435831 + Silent SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 4 146435831 146435831 G A SNP SMAD1 ENST00000302085 human ensembl 74_37 +1 known silent c.66 p.Q22 1.000 superfamily_MAD_homology_MH1,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 tier1 - - 25 0 0.00 25 4 13.79 TAF4B 0 genome.wustl.edu 37 18 23915142 23915142 + Missense_Mutation SNP C C A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 18 23915142 23915142 C A SNP TAF4B ENST00000269142 human ensembl 74_37 +1 known missense c.2263 p.R755S 1.000 pfam_TAF4 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 51 0 0.00 38 2 5.00 TGM4 0 genome.wustl.edu 37 3 44955211 44955211 + Silent SNP C C G TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 3 44955211 44955211 C G SNP TGM4 ENST00000296125 human ensembl 74_37 +1 known silent c.2049 p.T683 0.605 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 tier1 - - 58 0 0.00 35 4 10.26 THOC7 0 genome.wustl.edu 37 3 63823667 63823667 + Silent SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 3 63823667 63823667 G T SNP THOC7 ENST00000295899 human ensembl 74_37 -1 known silent c.337 p.R113 1.000 pfam_THOC7/Mft1 pfam_THOC7/Mft1 - no_errors THOC7 HGNC ENSG00000163634 tier1 - - 58 0 0.00 19 10 34.48 TMEM132D 0 genome.wustl.edu 37 12 129569270 129569270 + Missense_Mutation SNP A A G TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 12 129569270 129569270 A G SNP TMEM132D ENST00000389441 human ensembl 74_37 -1 known missense c.35 p.L12P 0.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 48 0 0.00 36 4 9.76 TMEM239 0 genome.wustl.edu 37 20 2797573 2797573 + Missense_Mutation SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 20 2797573 2797573 C T SNP TMEM239 ENST00000554164 human ensembl 74_37 +1 known missense c.644 p.P215L 1.000 NULL NULL - no_errors TMEM239 HGNC ENSG00000198326 tier1 - - 51 0 0.00 45 7 13.21 TMEM30C 0 genome.wustl.edu 37 3 99904605 99904605 + Silent SNP C C T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 3 99904605 99904605 C T SNP TMEM30C ENST00000429523 human ensembl 74_37 +1 known silent c.75 p.I25 0.006 NULL NULL - no_errors TMEM30C HGNC ENSG00000235156 tier1 - - 49 0 0.00 33 12 26.67 TMPRSS15 0 genome.wustl.edu 37 21 19685373 19685373 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 21 19685373 19685373 G T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2054 p.T685K 0.000 pfam_SRCR,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 44 0 0.00 37 2 5.13 TP53 0 genome.wustl.edu 37 17 7577545 7577545 + Missense_Mutation SNP T T C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 17 7577545 7577545 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.736 p.M246V 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 271 0 0.00 107 101 48.56 TREML1 0 genome.wustl.edu 37 6 41119038 41119038 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 6 41119038 41119038 G T SNP TREML1 ENST00000426005 human ensembl 74_37 -1 known missense c.461 p.P154H 0.258 NULL pfam_Ig_V-set - no_errors TREML1 HGNC ENSG00000161911 tier1 - - 99 0 0.00 56 20 26.32 USP18 0 genome.wustl.edu 37 22 18640567 18640567 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 22 18640567 18640567 G A SNP USP18 ENST00000215794 human ensembl 74_37 +1 known missense c.137 p.R46K 0.001 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP18 HGNC ENSG00000184979 tier1 - - 38 0 0.00 29 8 21.62 VCL 0 genome.wustl.edu 37 10 75873970 75873970 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 10 75873970 75873970 G A SNP VCL ENST00000211998 human ensembl 74_37 +1 known missense c.2978 p.R993H 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 35 0 0.00 17 2 10.53 XPNPEP1 0 genome.wustl.edu 37 10 111647946 111647946 + Silent SNP A A G TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 10 111647946 111647946 A G SNP XPNPEP1 ENST00000502935 human ensembl 74_37 -1 known silent c.513 p.Y171 1.000 pfam_Creatinase pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 29 0 0.00 19 6 24.00 ZDHHC8P1 0 genome.wustl.edu 37 22 23734897 23734897 + RNA SNP A A G TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 22 23734897 23734897 A G SNP ZDHHC8P1 ENST00000456279 human ensembl 74_37 -1 known rna NULL NULL 0.079 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 tier1 - - 55 0 0.00 31 15 32.61 ZNF185 0 genome.wustl.edu 37 X 152091293 152091293 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 X 152091293 152091293 G A SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known missense c.767 p.R256Q 0.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 tier1 - - 45 0 0.00 41 21 33.87 ZNF701 0 genome.wustl.edu 37 19 53085583 53085583 + Missense_Mutation SNP G G C TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef228907-c929-4e96-b91e-016838b393da deb263ba-4437-4d37-bde6-67d28cff9bf3 19 53085583 53085583 G C SNP ZNF701 ENST00000301093 human ensembl 74_37 +1 known missense c.469 p.E157Q 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 ZNF701 HGNC ENSG00000167562 tier1 - - 93 0 0.00 62 19 23.17