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 ABCA12 0 genome.wustl.edu 37 2 215917224 215917224 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 215917224 215917224 A C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.494 p.L165R 0.891 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 36 0 0.00 11 9 45.00 ADAMTS19 0 genome.wustl.edu 37 5 129015552 129015552 + Nonsense_Mutation SNP A A T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 5 129015552 129015552 A T SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known nonsense c.2584 p.R862* 0.998 pfam_ADAM_spacer1 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 tier1 - - 49 0 0.00 15 28 65.12 AGBL1 0 genome.wustl.edu 37 15 86807505 86807505 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 15 86807505 86807505 T G SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.965 p.L322R 0.001 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 36 0 0.00 7 17 70.83 ALK 0 genome.wustl.edu 37 2 29451843 29451843 + Missense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 29451843 29451843 G T SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.2722 p.Q908K 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 tier1 - - 36 0 0.00 28 9 24.32 AMBN 0 genome.wustl.edu 37 4 71472353 71472353 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 71472353 71472353 C T SNP AMBN ENST00000322937 human ensembl 74_37 +1 known missense c.1250 p.T417M 0.966 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 tier1 rs146171297 - 49 0 0.00 73 4 5.19 ANKRD11 0 genome.wustl.edu 37 16 89348236 89348236 + Missense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 16 89348236 89348236 G T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.4714 p.L1572I 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 35 0 0.00 41 4 8.89 AP2M1 0 genome.wustl.edu 37 3 183901682 183901683 + RNA INS - - GG TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 183901682 183901683 - GG INS AP2M1 ENST00000461733 human ensembl 74_37 +1 known rna NULL NULL 0.984:0.977 - - - no_errors AP2M1 HGNC ENSG00000161203 tier1 38 0 0.00 46 5 9.80 AP3B1 0 genome.wustl.edu 37 5 77477450 77477450 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 5 77477450 77477450 C T SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known missense c.823 p.E275K 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 tier1 rs140209190 - 53 0 0.00 10 25 71.43 AP5B1 0 genome.wustl.edu 37 11 65546613 65546613 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 65546613 65546613 G A SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.1351 p.R451W 0.776 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 tier1 - - 33 0 0.00 21 16 43.24 ARID1B 0 genome.wustl.edu 37 6 157525061 157525061 + Silent SNP G G C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 157525061 157525061 G C SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known silent c.5076 p.T1692 0.010 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 - - 156 0 0.00 146 42 22.22 ASS1 0 genome.wustl.edu 37 9 133352306 133352306 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 9 133352306 133352306 G A SNP ASS1 ENST00000352480 human ensembl 74_37 +1 known missense c.646 p.A216T 0.962 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 tier1 - - 35 0 0.00 15 12 44.44 ASTN2 0 genome.wustl.edu 37 9 120053713 120053713 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 9 120053713 120053713 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known silent c.522 p.H174 0.999 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 rs150992416 - 32 0 0.00 22 7 24.14 ASXL1 0 genome.wustl.edu 37 20 31019408 31019408 + Missense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 20 31019408 31019408 G T SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.905 p.R302L 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 98 0 0.00 74 59 44.36 ATP13A5 0 genome.wustl.edu 37 3 193051635 193051635 + Missense_Mutation SNP G G C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 193051635 193051635 G C SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.1176 p.F392L 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 tier1 - - 65 0 0.00 59 4 6.35 ATP2B2 0 genome.wustl.edu 37 3 10400482 10400482 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 10400482 10400482 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.2029 p.R677C 1.000 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 tier1 - - 38 0 0.00 50 36 41.86 ATP8A1 0 genome.wustl.edu 37 4 42509113 42509113 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 42509113 42509113 T G SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.2006 p.E669A 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 tier1 - - 115 0 0.00 117 18 13.33 BICC1 0 genome.wustl.edu 37 10 60556253 60556253 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 10 60556253 60556253 T G SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.1333 p.L445V 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 46 0 0.00 26 9 25.71 BRIP1 0 genome.wustl.edu 37 17 59885878 59885878 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 17 59885878 59885878 C T SNP BRIP1 ENST00000259008 human ensembl 74_37 -1 known missense c.868 p.G290S 0.920 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 40 0 0.00 34 2 5.41 C4orf50 0 genome.wustl.edu 37 4 5969167 5969167 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 5969167 5969167 T G SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known missense c.1853 p.K618T 0.001 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 tier1 - - 30 0 0.00 7 45 86.54 C6orf118 0 genome.wustl.edu 37 6 165715455 165715455 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 165715455 165715455 A C SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.356 p.V119G 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 tier1 - - 28 0 0.00 17 9 34.62 CACNA1H 0 genome.wustl.edu 37 16 1254037 1254037 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 16 1254037 1254037 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.2030 p.S677L 0.999 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 21 0 0.00 12 6 33.33 CAPS2 0 genome.wustl.edu 37 12 75669817 75669817 + RNA SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 12 75669817 75669817 A C SNP CAPS2 ENST00000409004 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CAPS2 HGNC ENSG00000180881 tier1 - - 23 0 0.00 4 8 66.67 CCDC60 0 genome.wustl.edu 37 12 119866563 119866563 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 12 119866563 119866563 A C SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.166 p.S56R 0.992 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 tier1 - - 26 0 0.00 4 15 78.95 CCIN 0 genome.wustl.edu 37 9 36170618 36170619 + Frame_Shift_Ins INS - - G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 9 36170618 36170619 - G INS CCIN ENST00000335119 human ensembl 74_37 +1 known frame_shift_ins c.1119_1120 p.T375fs 0.655:0.977 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors CCIN HGNC ENSG00000185972 tier1 64 0 0.00 59 14 19.18 CDHR3 0 genome.wustl.edu 37 7 105636791 105636791 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 7 105636791 105636791 G A SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known missense c.704 p.R235H 0.321 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 tier1 rs200623269 - 38 0 0.00 9 26 74.29 CELF2 0 genome.wustl.edu 37 10 11367844 11367844 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 10 11367844 11367844 T G SNP CELF2 ENST00000450189 human ensembl 74_37 +1 known missense c.1340 p.F447C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 tier1 - - 88 0 0.00 40 29 42.03 CHRNB2 0 genome.wustl.edu 37 1 154543681 154543681 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 154543681 154543681 G A SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known missense c.382 p.E128K 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 CHRNB2 HGNC ENSG00000160716 tier1 - - 58 0 0.00 80 11 12.09 CNTNAP5 0 genome.wustl.edu 37 2 124979370 124979370 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 124979370 124979370 A C SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.171 p.Q57H 0.768 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 42 0 0.00 30 12 28.57 COG8 0 genome.wustl.edu 37 16 69368468 69368468 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 16 69368468 69368468 G A SNP COG8 ENST00000306875 human ensembl 74_37 -1 known silent c.1369 p.L457 1.000 pirsf_COG8_Metazoal_Plant pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant - no_errors COG8 HGNC ENSG00000213380 13 0 0.00 19 4 17.39 COL25A1 0 genome.wustl.edu 37 4 109810879 109810879 + Missense_Mutation SNP C C A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 109810879 109810879 C A SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known missense c.917 p.G306V 1.000 NULL pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 45 0 0.00 32 2 5.88 COL27A1 0 genome.wustl.edu 37 9 117063406 117063406 + Splice_Site SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 9 117063406 117063406 G A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known splice_site c.4755+1 e52+1 1.000 - - - no_errors COL27A1 HGNC ENSG00000196739 tier1 - - 92 0 0.00 54 21 28.00 COL6A5 0 genome.wustl.edu 37 3 130159234 130159234 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 130159234 130159234 A C SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.6052 p.S2018R 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 45 0 0.00 19 12 38.71 COL6A6 0 genome.wustl.edu 37 3 130380752 130380752 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 130380752 130380752 T G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.6102 p.N2034K 0.995 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 27 0 0.00 19 9 32.14 CPXM2 0 genome.wustl.edu 37 10 125526577 125526577 + Missense_Mutation SNP C C A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 10 125526577 125526577 C A SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.1391 p.W464L 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 tier1 - - 78 0 0.00 48 28 36.84 CSMD1 0 genome.wustl.edu 37 8 4494898 4494898 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 8 4494898 4494898 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.268 p.D90N 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 rs201992115 - 37 0 0.00 38 22 36.67 CT47B1 0 genome.wustl.edu 37 X 120008881 120008881 + Missense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 X 120008881 120008881 G T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.644 p.A215D 0.001 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 tier1 - - 60 0 0.00 19 114 85.07 CTNND2 0 genome.wustl.edu 37 5 11110989 11110991 + In_Frame_Del DEL TTC TTC - TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 5 11110989 11110991 TTC - DEL CTNND2 ENST00000304623 human ensembl 74_37 -1 known in_frame_del c.2444_2442 p.K817in_frame_del 1.000:1.000:1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 35 0 0.00 22 3 12.00 CTR9 0 genome.wustl.edu 37 11 10785358 10785358 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 10785358 10785358 G A SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.1126 p.E376K 1.000 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 tier1 - - 17 0 0.00 1 4 80.00 CWF19L2 0 genome.wustl.edu 37 11 107200658 107200658 + Missense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 107200658 107200658 G T SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known missense c.2527 p.H843N 1.000 pfam_Cwf19-like_C_dom-2 pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 tier1 - - 72 0 0.00 67 5 6.94 CYSLTR1 0 genome.wustl.edu 37 X 77528873 77528873 + Missense_Mutation SNP G G C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 X 77528873 77528873 G C SNP CYSLTR1 ENST00000373304 human ensembl 74_37 -1 known missense c.371 p.A124G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors CYSLTR1 HGNC ENSG00000173198 tier1 - - 34 0 0.00 25 6 19.35 DAB2IP 0 genome.wustl.edu 37 9 124525826 124525826 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 9 124525826 124525826 G A SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.1213 p.G405R 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 tier1 rs142519289 - 31 0 0.00 18 15 45.45 DCSTAMP 0 genome.wustl.edu 37 8 105361511 105361511 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 8 105361511 105361511 A C SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.731 p.N244T 0.991 pfam_DC_STAMP-like pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 tier1 - - 69 0 0.00 81 19 18.81 DIP2B 0 genome.wustl.edu 37 12 51112540 51112540 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 12 51112540 51112540 G A SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.2900 p.R967H 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 tier1 - - 119 0 0.00 63 4 5.97 DLC1 0 genome.wustl.edu 37 8 13357035 13357035 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 8 13357035 13357035 T G SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.546 p.K182N 0.001 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 24 0 0.00 16 9 36.00 DNAH11 0 genome.wustl.edu 37 7 21779255 21779255 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 7 21779255 21779255 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.7899 p.P2633 0.030 superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 - - 71 0 0.00 57 57 50.00 DNM1P47 0 genome.wustl.edu 37 15 102299730 102299730 + RNA SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 15 102299730 102299730 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 13 0 0.00 7 4 36.36 DTX2 0 genome.wustl.edu 37 7 76112341 76112342 + In_Frame_Ins INS - - CAC TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 7 76112341 76112342 - CAC INS DTX2 ENST00000324432 human ensembl 74_37 +1 known in_frame_ins c.785_786 p.265in_frame_insT 0.797:0.424 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 tier1 31 0 0.00 19 17 47.22 EBF2 0 genome.wustl.edu 37 8 25898183 25898183 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 8 25898183 25898183 G A SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known silent c.357 p.V119 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 tier1 - - 31 0 0.00 42 17 28.81 EMX1 0 genome.wustl.edu 37 2 73143814 73143814 + RNA SNP T T A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 73143814 73143814 T A SNP EMX1 ENST00000394111 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EMX1 HGNC ENSG00000135638 tier1 - - 78 0 0.00 69 13 15.85 ENSG00000215304 0 genome.wustl.edu 37 15 32716844 32716844 + Splice_Site SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 15 32716844 32716844 A G SNP ENSG00000215304 ENST00000562108 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.993 - - - no_errors RP13-395E19.3 Clone_based_vega_gene ENSG00000215304 tier1 - - 49 0 0.00 25 11 30.56 ENSG00000225411 0 genome.wustl.edu 37 9 68400311 68400311 + RNA SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 9 68400311 68400311 C T SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.045 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 - - 8 0 0.00 3 3 50.00 ENSG00000232274 0 genome.wustl.edu 37 1 143194180 143194180 + Splice_Site SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 143194180 143194180 C T SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.000 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 rs199907503 - 22 0 0.00 25 8 24.24 ENSG00000234978 0 genome.wustl.edu 37 1 142803343 142803343 + RNA SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 142803343 142803343 T C SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier1 - - 201 0 0.00 101 13 11.30 ENSG00000266885 0 genome.wustl.edu 37 17 21935376 21935376 + RNA SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 17 21935376 21935376 A G SNP ENSG00000266885 ENST00000582527 human ensembl 74_37 +1 known rna NULL NULL 0.121 - - - no_errors RP11-744K17.2 Clone_based_vega_gene ENSG00000266885 tier1 - - 21 0 0.00 7 6 46.15 ENSG00000267776 0 genome.wustl.edu 37 19 56888218 56888218 + RNA DEL T T - TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 56888218 56888218 T - DEL ENSG00000267776 ENST00000591836 human ensembl 74_37 -1 known rna NULL NULL 0.075 - - - no_errors AC006116.24 Clone_based_vega_gene ENSG00000267776 tier1 31 0 0.00 12 5 29.41 ENSG00000271894 0 genome.wustl.edu 37 2 56613262 56613262 + RNA SNP A A T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 56613262 56613262 A T SNP ENSG00000271894 ENST00000607540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-482H16.1 Clone_based_vega_gene ENSG00000271894 tier1 - - 45 0 0.00 24 10 29.41 EPB41L3 0 genome.wustl.edu 37 18 5394763 5394763 + Silent SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 18 5394763 5394763 T C SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.3183 p.K1061 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 57 0 0.00 34 63 64.95 EPHA7 0 genome.wustl.edu 37 6 93964462 93964462 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 93964462 93964462 T G SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.2435 p.K812T 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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 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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 52 0 0.00 11 17 60.71 EPPK1 0 genome.wustl.edu 37 8 144940783 144940783 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 8 144940783 144940783 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.6639 p.D2213 0.007 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 14 0 0.00 28 3 9.68 ERC2 0 genome.wustl.edu 37 3 55544128 55544128 + RNA SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 55544128 55544128 T G SNP ERC2 ENST00000484530 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 48 0 0.00 19 15 44.12 ETAA1 0 genome.wustl.edu 37 2 67630536 67630536 + Missense_Mutation SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 67630536 67630536 A G SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known missense c.722 p.H241R 0.000 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 tier1 - - 45 0 0.00 36 11 23.40 EYS 0 genome.wustl.edu 37 6 66044948 66044948 + Missense_Mutation SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 66044948 66044948 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1691 p.L564P 0.002 smart_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 57 0 0.00 12 10 45.45 FAM179A 0 genome.wustl.edu 37 2 29247111 29247111 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 29247111 29247111 G A SNP FAM179A ENST00000379558 human ensembl 74_37 +1 known missense c.1724 p.R575H 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 tier1 - - 56 0 0.00 34 17 33.33 FAM35BP 0 genome.wustl.edu 37 10 46914512 46914512 + RNA SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 10 46914512 46914512 A C SNP FAM35BP ENST00000475914 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors FAM35BP HGNC ENSG00000165874 tier1 - - 9 0 0.00 4 4 50.00 FAM65C 0 genome.wustl.edu 37 20 49226215 49226215 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 20 49226215 49226215 G A SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known silent c.471 p.R157 0.005 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 10 0 0.00 14 4 22.22 FANCA 0 genome.wustl.edu 37 16 89811415 89811415 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 16 89811415 89811415 A C SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.3578 p.L1193R 0.900 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 tier1 - - 49 0 0.00 25 11 30.56 FBXL7 0 genome.wustl.edu 37 5 15936744 15936744 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 5 15936744 15936744 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.925 p.V309I 0.997 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 tier1 - - 49 0 0.00 11 48 81.36 FCRL1 0 genome.wustl.edu 37 1 157771711 157771711 + Missense_Mutation SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 157771711 157771711 A G SNP FCRL1 ENST00000368176 human ensembl 74_37 -1 known missense c.880 p.F294L 0.016 smart_Ig_sub pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL1 HGNC ENSG00000163534 tier1 - - 28 0 0.00 33 15 31.25 FCRL2 0 genome.wustl.edu 37 1 157737295 157737295 + Silent SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 157737295 157737295 T C SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known silent c.888 p.P296 0.879 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 tier1 - - 31 0 0.00 33 24 42.11 FGF13-AS1 0 genome.wustl.edu 37 X 137793725 137793725 + RNA SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 X 137793725 137793725 G T SNP FGF13-AS1 ENST00000446383 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors FGF13-AS1 HGNC ENSG00000226031 tier1 - - 42 0 0.00 58 43 42.57 FLJ45974 0 genome.wustl.edu 37 7 53833872 53833872 + RNA SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 7 53833872 53833872 T C SNP FLJ45974 ENST00000380970 human ensembl 74_37 -1 known rna NULL NULL 0.128 - - - no_errors GS1-179L18.1 Clone_based_vega_gene ENSG00000205628 tier1 - - 72 0 0.00 59 23 28.05 FMO4 0 genome.wustl.edu 37 1 171289011 171289011 + Missense_Mutation SNP C C G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 171289011 171289011 C G SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known missense c.47 p.S16C 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 tier1 - - 61 0 0.00 61 53 46.49 FOLH1B 0 genome.wustl.edu 37 11 89421812 89421812 + RNA SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 89421812 89421812 T G SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.981 - - - no_errors FOLH1B HGNC ENSG00000134612 tier1 - - 61 0 0.00 12 19 61.29 FREM2 0 genome.wustl.edu 37 13 39262874 39262874 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 13 39262874 39262874 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.1393 p.P465S 0.008 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 55 0 0.00 20 11 35.48 FREM2 0 genome.wustl.edu 37 13 39262883 39262883 + Silent SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 13 39262883 39262883 T C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.1402 p.L468 0.992 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 55 0 0.00 20 10 33.33 GABBR1 0 genome.wustl.edu 37 6 29581140 29581140 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 29581140 29581140 G A SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known silent c.1446 p.N482 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 tier1 - - 49 0 0.00 56 11 16.42 GATA3 0 genome.wustl.edu 37 10 8097681 8097681 + Silent SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 10 8097681 8097681 G T SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known silent c.63 p.G21 0.996 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 tier1 - - 48 0 0.00 28 4 12.50 GBA2 0 genome.wustl.edu 37 9 35737850 35737850 + Silent SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 9 35737850 35737850 A G SNP GBA2 ENST00000545786 human ensembl 74_37 -1 known silent c.2418 p.A806 0.993 pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 tier1 - - 50 0 0.00 67 18 21.18 GPBAR1 0 genome.wustl.edu 37 2 219128374 219128374 + Silent SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 219128374 219128374 C T SNP GPBAR1 ENST00000479077 human ensembl 74_37 +1 known silent c.927 p.D309 0.034 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPBAR1 HGNC ENSG00000179921 tier1 - - 20 0 0.00 19 8 29.63 GRID1 0 genome.wustl.edu 37 10 87628820 87628820 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 10 87628820 87628820 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.898 p.R300C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 tier1 - - 68 0 0.00 37 22 37.29 GRM4 0 genome.wustl.edu 37 6 34071373 34071373 + Silent SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 34071373 34071373 A G SNP GRM4 ENST00000535756 human ensembl 74_37 -1 known silent c.105 p.H35 0.998 superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt - no_errors GRM4 HGNC ENSG00000124493 44 0 0.00 72 4 5.26 GUCY2C 0 genome.wustl.edu 37 12 14836151 14836151 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 12 14836151 14836151 T G SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known missense c.436 p.S146R 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 tier1 - - 71 0 0.00 15 32 68.09 HDGF 0 genome.wustl.edu 37 1 156722139 156722139 + Missense_Mutation SNP C C A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 156722139 156722139 C A SNP HDGF ENST00000368206 human ensembl 74_37 -1 known missense c.17 p.G6V 0.053 NULL pfam_PWWP_dom - no_errors HDGF HGNC ENSG00000143321 tier1 - - 36 0 0.00 17 7 29.17 HIPK2 0 genome.wustl.edu 37 7 139257834 139257834 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 7 139257834 139257834 C T SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.3436 p.V1146M 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 tier1 - - 71 0 0.00 55 23 29.49 HRNR 0 genome.wustl.edu 37 1 152191005 152191005 + Missense_Mutation SNP A A T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 152191005 152191005 A T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.3100 p.S1034T 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 91 0 0.00 94 55 36.91 HTR1A 0 genome.wustl.edu 37 5 63256592 63256592 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 5 63256592 63256592 C T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known missense c.955 p.A319T 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 tier1 - - 20 0 0.00 15 10 40.00 IFI16 0 genome.wustl.edu 37 1 159021683 159021683 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 159021683 159021683 A C SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.1880 p.K627T 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 tier1 - - 49 0 0.00 43 15 25.86 IMPG2 0 genome.wustl.edu 37 3 101010330 101010330 + Missense_Mutation SNP C C A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 101010330 101010330 C A SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.526 p.V176L 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 tier1 - - 43 0 0.00 42 17 28.81 ITGA8 0 genome.wustl.edu 37 10 15649773 15649773 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 10 15649773 15649773 G A SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.1667 p.T556M 0.747 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 tier1 rs147309422 - 11 0 0.00 14 8 36.36 JAM3 0 genome.wustl.edu 37 11 134009549 134009549 + RNA SNP C C A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 134009549 134009549 C A SNP JAM3 ENST00000532165 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors JAM3 HGNC ENSG00000166086 tier1 - - 21 0 0.00 6 5 45.45 JPH2 0 genome.wustl.edu 37 20 42744353 42744353 + Silent SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 20 42744353 42744353 C T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known silent c.1962 p.A654 0.005 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 17 0 0.00 29 5 14.71 KCNA4 0 genome.wustl.edu 37 11 30034788 30034788 + RNA SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 30034788 30034788 A C SNP KCNA4 ENST00000526518 human ensembl 74_37 -1 putative rna NULL NULL 0.005 - - - no_errors KCNA4 HGNC ENSG00000182255 tier1 - - 70 0 0.00 25 50 66.67 KCNK3 0 genome.wustl.edu 37 2 26950852 26950852 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 26950852 26950852 G A SNP KCNK3 ENST00000302909 human ensembl 74_37 +1 known missense c.601 p.G201S 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 tier1 - - 65 0 0.00 61 21 25.61 KCNT2 0 genome.wustl.edu 37 1 196250003 196250003 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 196250003 196250003 A C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2897 p.L966R 0.977 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 64 0 0.00 34 23 40.35 KIAA1244 0 genome.wustl.edu 37 6 138576830 138576830 + Missense_Mutation SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 138576830 138576830 T C SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.1028 p.L343P 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 25 0 0.00 21 5 19.23 KIAA1462 0 genome.wustl.edu 37 10 30316554 30316554 + Silent SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 10 30316554 30316554 C T SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known silent c.2523 p.E841 1.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 tier1 - - 66 0 0.00 43 15 25.86 KIAA2022 0 genome.wustl.edu 37 X 73960102 73960102 + Missense_Mutation SNP C C G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 X 73960102 73960102 C G SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.4290 p.K1430N 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 31 0 0.00 26 6 18.75 KIF21A 0 genome.wustl.edu 37 12 39725518 39725518 + Missense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 12 39725518 39725518 G T SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.3127 p.H1043N 1.000 superfamily_Prefoldin pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 tier1 - - 49 0 0.00 54 4 6.90 KRR1 0 genome.wustl.edu 37 12 75893716 75893716 + Missense_Mutation SNP T T A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 12 75893716 75893716 T A SNP KRR1 ENST00000229214 human ensembl 74_37 -1 known missense c.1019 p.K340I 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors KRR1 HGNC ENSG00000111615 tier1 - - 50 0 0.00 23 11 32.35 KRTAP6-1 0 genome.wustl.edu 37 21 31986100 31986100 + Missense_Mutation SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 21 31986100 31986100 A G SNP KRTAP6-1 ENST00000329122 human ensembl 74_37 -1 known missense c.124 p.F42L 0.474 NULL NULL - no_errors KRTAP6-1 HGNC ENSG00000184724 tier1 - - 125 0 0.00 61 45 42.45 LAMA1 0 genome.wustl.edu 37 18 7050932 7050932 + Missense_Mutation SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 18 7050932 7050932 A G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.349 p.F117L 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 32 0 0.00 17 17 50.00 LAMA5 0 genome.wustl.edu 37 20 60885984 60885984 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 20 60885984 60885984 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.10255 p.R3419C 0.048 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 15 0 0.00 6 17 73.91 LINC00242 0 genome.wustl.edu 37 6 170190176 170190176 + RNA SNP A A T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 170190176 170190176 A T SNP LINC00242 ENST00000437615 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00242 HGNC ENSG00000229214 55 0 0.00 59 11 15.71 LINC00477 0 genome.wustl.edu 37 12 24736553 24736553 + RNA SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 12 24736553 24736553 T C SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.389 - - - no_errors LINC00477 HGNC ENSG00000197503 tier1 - - 14 0 0.00 25 10 27.78 LOC100507002 0 genome.wustl.edu 37 17 63096999 63096999 + RNA SNP C C A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 17 63096999 63096999 C A SNP LOC100507002 ENST00000582940 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-160O5.1 Clone_based_vega_gene ENSG00000263470 tier1 - - 16 0 0.00 11 18 62.07 LOC101929762 0 genome.wustl.edu 37 4 120116877 120116877 + Frame_Shift_Del DEL A A - TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 120116877 120116877 A - DEL LOC101929762 ENST00000326780 human ensembl 74_37 -1 known frame_shift_del c.236 p.F79fs 0.022 NULL pfam_Ribosomal-S32_mit - no_errors RP11-455G16.1 Clone_based_vega_gene ENSG00000178636 tier1 37 0 0.00 31 3 8.82 LOXL2 0 genome.wustl.edu 37 8 23186066 23186066 + Nonsense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 8 23186066 23186066 G A SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known nonsense c.979 p.R327* 1.000 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 tier1 - - 31 0 0.00 45 13 22.41 LPAR1 0 genome.wustl.edu 37 9 113637739 113637739 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 9 113637739 113637739 A C SNP LPAR1 ENST00000538760 human ensembl 74_37 -1 known missense c.1060 p.L354V 0.997 prints_LPA_rcpt_EDG2 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 tier1 - - 66 0 0.00 48 21 30.43 LRP1B 0 genome.wustl.edu 37 2 141459345 141459345 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 141459345 141459345 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.6372 p.T2124 0.863 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 55 0 0.00 36 11 23.40 LRP4 0 genome.wustl.edu 37 11 46911918 46911918 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 46911918 46911918 C T SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.1825 p.G609R 0.994 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 tier1 - - 35 0 0.00 38 15 28.30 LZTS1 0 genome.wustl.edu 37 8 20107396 20107396 + Missense_Mutation SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 8 20107396 20107396 T C SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known missense c.1628 p.Q543R 1.000 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 tier1 - - 37 0 0.00 23 21 47.73 MATN1-AS1 0 genome.wustl.edu 37 1 31191941 31191941 + RNA SNP C C G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 31191941 31191941 C G SNP MATN1-AS1 ENST00000414532 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MATN1-AS1 HGNC ENSG00000186056 tier1 - - 9 0 0.00 2 6 75.00 MED12L 0 genome.wustl.edu 37 3 151095844 151095844 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 151095844 151095844 C T SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.4256 p.A1419V 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 51 0 0.00 53 5 8.62 MLIP 0 genome.wustl.edu 37 6 54095682 54095682 + Silent SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 54095682 54095682 T G SNP MLIP ENST00000274897 human ensembl 74_37 +1 known silent c.1284 p.S428 0.983 NULL NULL - no_errors MLIP HGNC ENSG00000146147 tier1 - - 50 0 0.00 33 24 42.11 MMP10 0 genome.wustl.edu 37 11 102642785 102642785 + Missense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 102642785 102642785 G T SNP MMP10 ENST00000279441 human ensembl 74_37 -1 known missense c.1288 p.P430T 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP10 HGNC ENSG00000166670 tier1 - - 123 0 0.00 71 29 29.00 MMP16 0 genome.wustl.edu 37 8 89068446 89068446 + Missense_Mutation SNP A A T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 8 89068446 89068446 A T SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1283 p.I428K 0.999 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 tier1 - - 69 0 0.00 64 21 24.71 MRGPRF 0 genome.wustl.edu 37 11 68773591 68773591 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 68773591 68773591 C T SNP MRGPRF ENST00000309099 human ensembl 74_37 -1 known missense c.187 p.G63R 1.000 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 - - 46 0 0.00 26 22 45.83 MT-ATP8 0 genome.wustl.edu 37 MT 8485 8485 + Missense_Mutation SNP G G C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 MT 8485 8485 G C SNP MT-ATP8 ENST00000361851 human ensembl 74_37 +1 known missense c.120 p.K40N NULL pfam_ATPase_F0-cplx_su8_mt_metazoan pfam_ATPase_F0-cplx_su8_mt_metazoan - no_errors MT-ATP8 HGNC ENSG00000228253 tier1 - - 14 0 0.00 0 10 100.00 MUC16 0 genome.wustl.edu 37 19 9070131 9070131 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 9070131 9070131 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.17315 p.I5772S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 98 0 0.00 48 27 36.00 MUC19 0 genome.wustl.edu 37 12 40821237 40821237 + Silent SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 12 40821237 40821237 T C SNP MUC19 ENST00000454784 human ensembl 74_37 +1 novel silent c.459 p.T153 0.993 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 87 0 0.00 17 37 68.52 NAA15 0 genome.wustl.edu 37 4 140297560 140297560 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 140297560 140297560 G A SNP NAA15 ENST00000296543 human ensembl 74_37 +1 known silent c.1989 p.P663 0.130 pfam_NatA_aux_su,pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 tier1 - - 36 0 0.00 19 11 36.67 NAV1 0 genome.wustl.edu 37 1 201618309 201618309 + Silent SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 201618309 201618309 G T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known silent c.513 p.P171 0.962 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 tier1 - - 25 0 0.00 26 24 48.00 NAV3 0 genome.wustl.edu 37 12 78444720 78444720 + Missense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 12 78444720 78444720 G T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.2309 p.R770L 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 42 0 0.00 35 2 5.41 NBEAL2 0 genome.wustl.edu 37 3 47044771 47044771 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 47044771 47044771 G A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.5692 p.E1898K 0.996 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 tier1 - - 34 0 0.00 21 13 38.24 NCAM2 0 genome.wustl.edu 37 21 22664538 22664538 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 21 22664538 22664538 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.596 p.R199H 1.000 smart_Ig_sub,prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 tier1 - - 80 0 0.00 38 13 25.49 NDST4 0 genome.wustl.edu 37 4 115997687 115997687 + Missense_Mutation SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 115997687 115997687 T C SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.506 p.E169G 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 - - 51 0 0.00 19 22 53.66 NETO2 0 genome.wustl.edu 37 16 47156609 47156609 + Missense_Mutation SNP C C A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 16 47156609 47156609 C A SNP NETO2 ENST00000562435 human ensembl 74_37 -1 known missense c.613 p.V205F 0.970 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 24 0 0.00 32 2 5.88 NLGN1 0 genome.wustl.edu 37 3 173996812 173996812 + Nonsense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 173996812 173996812 G T SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known nonsense c.1141 p.E381* 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 tier1 - - 96 0 0.00 44 37 45.68 NOTCH2 0 genome.wustl.edu 37 1 120464920 120464920 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 120464920 120464920 G A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.5152 p.R1718C 0.999 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 tier1 - - 36 0 0.00 33 7 17.50 NOX3 0 genome.wustl.edu 37 6 155764536 155764536 + Silent SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 155764536 155764536 C T SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known silent c.357 p.A119 0.015 pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 tier1 - - 51 0 0.00 56 8 12.50 NRG1 0 genome.wustl.edu 37 8 32505698 32505698 + Silent SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 8 32505698 32505698 A G SNP NRG1 ENST00000520502 human ensembl 74_37 +1 known silent c.462 p.Q154 0.996 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 84 0 0.00 88 65 42.48 NRSN2 0 genome.wustl.edu 37 20 330345 330345 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 20 330345 330345 G A SNP NRSN2 ENST00000382285 human ensembl 74_37 +1 known missense c.58 p.G20S 0.985 NULL NULL - no_errors NRSN2 HGNC ENSG00000125841 tier1 - - 27 0 0.00 36 23 38.98 NSUN7 0 genome.wustl.edu 37 4 40792670 40792670 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 40792670 40792670 G A SNP NSUN7 ENST00000381782 human ensembl 74_37 +1 known missense c.1088 p.R363K 0.985 NULL pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC ENSG00000179299 tier1 - - 52 0 0.00 50 9 15.00 NTM 0 genome.wustl.edu 37 11 132205042 132205042 + Splice_Site SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 132205042 132205042 G A SNP NTM ENST00000483174 human ensembl 74_37 +1 putative splice_site c.NULL NULL 1.000 - - - no_errors NTM HGNC ENSG00000182667 tier1 - - 28 0 0.00 12 6 33.33 NXF2B 0 genome.wustl.edu 37 X 101624588 101624588 + Silent SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 X 101624588 101624588 C T SNP NXF2B ENST00000372749 human ensembl 74_37 -1 known silent c.303 p.T101 0.000 NULL pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2B HGNC ENSG00000185945 tier1 - - 78 0 0.00 69 49 41.53 NXPE2 0 genome.wustl.edu 37 11 114550457 114550457 + Silent SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 114550457 114550457 T C SNP NXPE2 ENST00000389586 human ensembl 74_37 +1 known silent c.105 p.I35 0.008 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE2 HGNC ENSG00000204361 tier1 - - 62 0 0.00 14 52 78.79 OLFML2B 0 genome.wustl.edu 37 1 161953713 161953713 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 161953713 161953713 G A SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.2005 p.R669W 0.699 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 tier1 - - 100 0 0.00 80 71 47.02 OLIG3 0 genome.wustl.edu 37 6 137815138 137815138 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 137815138 137815138 G A SNP OLIG3 ENST00000367734 human ensembl 74_37 -1 known missense c.170 p.S57L 0.998 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG3 HGNC ENSG00000177468 tier1 - - 26 0 0.00 12 9 42.86 OR10H4 0 genome.wustl.edu 37 19 16060211 16060211 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 16060211 16060211 C T SNP OR10H4 ENST00000322107 human ensembl 74_37 +1 known missense c.394 p.R132C 0.994 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 OR10H4 HGNC ENSG00000176231 tier1 rs140667599 - 143 0 0.00 106 51 32.48 OR13C2 0 genome.wustl.edu 37 9 107367310 107367310 + Missense_Mutation SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 9 107367310 107367310 A G SNP OR13C2 ENST00000542196 human ensembl 74_37 -1 known missense c.599 p.L200P 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 tier1 - - 66 0 0.00 44 28 38.89 OR2AJ1 0 genome.wustl.edu 37 1 248097885 248097885 + Missense_Mutation SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 248097885 248097885 A G SNP OR2AJ1 ENST00000318244 human ensembl 74_37 +1 known missense c.815 p.K272R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AJ1 HGNC ENSG00000177275 tier1 - - 60 0 0.00 45 27 37.50 OR2D3 0 genome.wustl.edu 37 11 6942312 6942312 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 6942312 6942312 A C SNP OR2D3 ENST00000317834 human ensembl 74_37 +1 known missense c.80 p.K27T 0.021 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC ENSG00000178358 tier1 - - 55 0 0.00 14 25 64.10 OR2L2 0 genome.wustl.edu 37 1 248202353 248202353 + Missense_Mutation SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 248202353 248202353 A G SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.784 p.R262G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 tier1 - - 127 0 0.00 102 74 42.05 OR4K13 0 genome.wustl.edu 37 14 20502358 20502358 + Missense_Mutation SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 14 20502358 20502358 A G SNP OR4K13 ENST00000315693 human ensembl 74_37 -1 known missense c.560 p.L187P 0.983 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 OR4K13 HGNC ENSG00000176253 tier1 - - 51 0 0.00 15 25 62.50 OR4M2 0 genome.wustl.edu 37 15 22368885 22368885 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 15 22368885 22368885 T G SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative missense c.310 p.L104V 0.049 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 tier1 - - 291 0 0.00 261 23 8.10 OR52E2 0 genome.wustl.edu 37 11 5080572 5080572 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 5080572 5080572 A C SNP OR52E2 ENST00000321522 human ensembl 74_37 -1 known missense c.286 p.F96V 0.112 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E2 HGNC ENSG00000176787 tier1 - - 52 0 0.00 10 44 81.48 OR52E4 0 genome.wustl.edu 37 11 5905821 5905821 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 5905821 5905821 T G SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known missense c.299 p.L100R 0.781 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E4 HGNC ENSG00000180974 tier1 - - 96 0 0.00 26 34 56.67 OR52J3 0 genome.wustl.edu 37 11 5068582 5068582 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 5068582 5068582 T G SNP OR52J3 ENST00000380370 human ensembl 74_37 +1 known missense c.827 p.L276R 0.908 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52J3 HGNC ENSG00000205495 tier1 - - 101 0 0.00 15 52 77.61 OR5H6 0 genome.wustl.edu 37 3 97983517 97983517 + Missense_Mutation SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 97983517 97983517 T C SNP OR5H6 ENST00000383696 human ensembl 74_37 +1 known missense c.389 p.L130P 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC ENSG00000230301 tier1 - - 78 0 0.00 80 21 20.79 OTOG 0 genome.wustl.edu 37 11 17615272 17615272 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 17615272 17615272 C T SNP OTOG ENST00000399391 human ensembl 74_37 +1 known missense c.3293 p.T1098I 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 33 0 0.00 20 5 20.00 PADI6 0 genome.wustl.edu 37 1 17707635 17707635 + RNA SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 17707635 17707635 A C SNP PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PADI6 HGNC ENSG00000256049 tier1 - - 54 0 0.00 41 7 14.58 PAFAH1B2 0 genome.wustl.edu 37 11 117045611 117045611 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 117045611 117045611 G A SNP PAFAH1B2 ENST00000419197 human ensembl 74_37 +1 known silent c.396 p.A132 0.002 NULL NULL - no_errors PAFAH1B2 HGNC ENSG00000168092 tier1 - - 35 0 0.00 9 7 43.75 PALD1 0 genome.wustl.edu 37 10 72298759 72298759 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 10 72298759 72298759 G A SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known missense c.1564 p.A522T 0.998 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 tier1 rs141972259 - 30 0 0.00 23 14 37.84 PCDH17 0 genome.wustl.edu 37 13 58207948 58207948 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 13 58207948 58207948 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1268 p.T423M 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 PCDH17 HGNC ENSG00000118946 tier1 - - 37 0 0.00 37 11 22.92 PCDH17 0 genome.wustl.edu 37 13 58209240 58209240 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 13 58209240 58209240 A C SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2560 p.I854L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 85 0 0.00 56 26 31.71 PCDHA12 0 genome.wustl.edu 37 5 140257124 140257124 + Silent SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 5 140257124 140257124 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.2067 p.P689 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 66 0 0.00 38 24 38.71 PCDHA4 0 genome.wustl.edu 37 5 140188585 140188585 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 5 140188585 140188585 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1813 p.A605T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 112 0 0.00 31 82 71.93 PCNXL3 0 genome.wustl.edu 37 11 65396307 65396307 + Missense_Mutation SNP G G C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 65396307 65396307 G C SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.3829 p.V1277L 0.986 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 tier1 - - 20 0 0.00 32 7 17.95 PCNXL3 0 genome.wustl.edu 37 11 65391694 65391694 + Missense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 65391694 65391694 G T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.2573 p.R858L 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 40 0 0.00 48 3 5.88 PDE11A 0 genome.wustl.edu 37 2 178936681 178936681 + Missense_Mutation SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 178936681 178936681 T C SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known missense c.484 p.S162G 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 36 0 0.00 32 2 5.88 PERP 0 genome.wustl.edu 37 6 138413370 138413370 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 138413370 138413370 C T SNP PERP ENST00000421351 human ensembl 74_37 -1 known missense c.391 p.V131M 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors PERP HGNC ENSG00000112378 tier1 - - 60 0 0.00 56 4 6.67 PIEZO1 0 genome.wustl.edu 37 16 88801445 88801445 + Missense_Mutation SNP C C G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 16 88801445 88801445 C G SNP PIEZO1 ENST00000301015 human ensembl 74_37 -1 novel missense c.1686 p.Q562H 0.034 NULL pfam_Piezo - no_errors PIEZO1 HGNC ENSG00000103335 tier1 - - 65 0 0.00 58 9 13.43 PKHD1 0 genome.wustl.edu 37 6 51524480 51524480 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 51524480 51524480 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.10444 p.R3482C 0.533 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 38 0 0.00 34 2 5.56 PLCH2 0 genome.wustl.edu 37 1 2433603 2433603 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 2433603 2433603 G A SNP PLCH2 ENST00000378486 human ensembl 74_37 +1 known missense c.2714 p.G905D 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 28 0 0.00 15 3 15.79 PLXND1 0 genome.wustl.edu 37 3 129288771 129288771 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 129288771 129288771 G A SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known silent c.3780 p.I1260 0.934 superfamily_Ig_E-set pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 tier1 - - 25 0 0.00 14 6 30.00 POLR2A 0 genome.wustl.edu 37 17 7402772 7402772 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 17 7402772 7402772 G A SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.1633 p.V545M 1.000 pfam_RNA_pol_Rpb1_3,smart_RNA_pol_N pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 tier1 - - 26 0 0.00 24 4 14.29 POU4F2 0 genome.wustl.edu 37 4 147561598 147561598 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 147561598 147561598 G A SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.868 p.G290S 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 tier1 - - 59 0 0.00 41 26 38.81 PPP3CA 0 genome.wustl.edu 37 4 102004363 102004363 + Silent SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 102004363 102004363 G T SNP PPP3CA ENST00000394854 human ensembl 74_37 -1 known silent c.840 p.A280 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 48 0 0.00 53 3 5.36 PRKDC 0 genome.wustl.edu 37 8 48739330 48739330 + Missense_Mutation SNP G G C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 8 48739330 48739330 G C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.8667 p.I2889M 1.000 pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 51 0 0.00 28 18 39.13 PRSS36 0 genome.wustl.edu 37 16 31155123 31155123 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 16 31155123 31155123 G A SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known silent c.756 p.G252 0.000 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 tier1 - - 37 0 0.00 28 9 24.32 PSG3 0 genome.wustl.edu 37 19 43237052 43237052 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 43237052 43237052 T G SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.593 p.N198T 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 tier1 rs16976174 - 244 0 0.00 117 73 38.42 RALYL 0 genome.wustl.edu 37 8 85774633 85774633 + Silent SNP C C A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 8 85774633 85774633 C A SNP RALYL ENST00000521268 human ensembl 74_37 +1 known silent c.516 p.V172 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 tier1 - - 55 0 0.00 46 19 29.23 RBM5 0 genome.wustl.edu 37 3 50144468 50144468 + RNA SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 50144468 50144468 C T SNP RBM5 ENST00000441812 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RBM5 HGNC ENSG00000003756 tier1 - - 39 0 0.00 27 9 25.00 REXO1 0 genome.wustl.edu 37 19 1828022 1828022 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 1828022 1828022 C T SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known missense c.766 p.A256T 0.002 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 tier1 - - 61 0 0.00 37 35 48.61 RIN3 0 genome.wustl.edu 37 14 93154538 93154540 + In_Frame_Del DEL GGC GGC - TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 14 93154538 93154540 GGC - DEL RIN3 ENST00000216487 human ensembl 74_37 +1 known in_frame_del c.2899_2901 p.G970in_frame_del 0.984:0.981:0.979 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 tier1 8 0 0.00 5 4 44.44 RNF150 0 genome.wustl.edu 37 4 142053867 142053867 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 142053867 142053867 G A SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known silent c.96 p.T32 0.959 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 tier1 - - 11 0 0.00 13 8 38.10 RNF43 0 genome.wustl.edu 37 17 56435892 56435892 + Silent SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 17 56435892 56435892 G T SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known silent c.1245 p.G415 0.924 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 tier1 - - 65 0 0.00 36 4 10.00 SCAPER 0 genome.wustl.edu 37 15 76958128 76958128 + Silent SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 15 76958128 76958128 C T SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known silent c.2511 p.E837 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 tier1 rs202054995 - 27 0 0.00 11 7 38.89 SCN1A 0 genome.wustl.edu 37 2 166868761 166868761 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 166868761 166868761 T G SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.3737 p.K1246T 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 53 0 0.00 27 15 35.71 SDK1 0 genome.wustl.edu 37 7 4051763 4051763 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 7 4051763 4051763 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.2316 p.P772 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 55 0 0.00 61 15 19.74 SEC16B 0 genome.wustl.edu 37 1 177905467 177905467 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 177905467 177905467 G A SNP SEC16B ENST00000308284 human ensembl 74_37 -1 known missense c.2537 p.P846L 0.000 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 tier1 - - 94 0 0.00 82 18 18.00 SEL1L2 0 genome.wustl.edu 37 20 13856704 13856704 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 20 13856704 13856704 A C SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known missense c.1084 p.F362V 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 tier1 - - 74 0 0.00 72 57 43.85 SEPT11 0 genome.wustl.edu 37 4 77926840 77926840 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 77926840 77926840 G A SNP SEPT11 ENST00000541121 human ensembl 74_37 +1 known missense c.259 p.G87S 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT11 HGNC ENSG00000138758 tier1 - - 40 0 0.00 24 35 58.33 SERPINA1 0 genome.wustl.edu 37 14 94844884 94844885 + Frame_Shift_Ins INS - - G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 14 94844884 94844885 - G INS SERPINA1 ENST00000355814 human ensembl 74_37 -1 known frame_shift_ins c.1159_1158 p.E386fs 0.000:0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC ENSG00000197249 tier1 54 0 0.00 22 17 43.59 SHISA9 0 genome.wustl.edu 37 16 13297270 13297270 + Silent SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 16 13297270 13297270 C T SNP SHISA9 ENST00000558583 human ensembl 74_37 +1 known silent c.834 p.N278 0.994 NULL NULL - no_errors SHISA9 HGNC ENSG00000237515 tier1 - - 59 0 0.00 47 6 11.32 SI 0 genome.wustl.edu 37 3 164724661 164724661 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 164724661 164724661 A C SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4349 p.V1450G 0.995 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 50 0 0.00 50 17 25.37 SLC22A31 0 genome.wustl.edu 37 16 89265964 89265964 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 16 89265964 89265964 C T SNP SLC22A31 ENST00000562855 human ensembl 74_37 -1 novel missense c.470 p.R157Q 0.250 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A31 HGNC ENSG00000259803 tier1 rs76283034 - 67 0 0.00 27 30 52.63 SLC25A4 0 genome.wustl.edu 37 4 186066045 186066045 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 186066045 186066045 G A SNP SLC25A4 ENST00000281456 human ensembl 74_37 +1 known missense c.239 p.R80H 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A4 HGNC ENSG00000151729 tier1 - - 40 0 0.00 18 14 43.75 SLC30A9 0 genome.wustl.edu 37 4 42080286 42080286 + Nonsense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 42080286 42080286 G T SNP SLC30A9 ENST00000264451 human ensembl 74_37 +1 known nonsense c.1606 p.E536* 1.000 NULL pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 tier1 - - 44 0 0.00 49 15 23.44 SNHG14 0 genome.wustl.edu 37 15 25425543 25425543 + RNA SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 15 25425543 25425543 A C SNP SNHG14 ENST00000441592 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 41 0 0.00 27 15 35.71 SORBS2 0 genome.wustl.edu 37 4 186532968 186532968 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 186532968 186532968 G A SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.3050 p.S1017F 1.000 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 - - 160 0 0.00 28 39 57.35 SPAST 0 genome.wustl.edu 37 2 32361662 32361662 + Missense_Mutation SNP C C G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 32361662 32361662 C G SNP SPAST ENST00000315285 human ensembl 74_37 +1 known missense c.1276 p.L426V 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 tier1 - - 132 0 0.00 130 14 9.72 SPATA31A3 0 genome.wustl.edu 37 9 40705717 40705717 + Missense_Mutation SNP T T A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 9 40705717 40705717 T A SNP SPATA31A3 ENST00000356699 human ensembl 74_37 +1 known missense c.3374 p.L1125H 0.001 NULL NULL - no_errors SPATA31A3 HGNC ENSG00000147926 tier1 - - 92 0 0.00 28 43 60.56 SPHK2 0 genome.wustl.edu 37 19 49132801 49132801 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 49132801 49132801 C T SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known missense c.1922 p.A641V 0.002 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 tier1 - - 41 0 0.00 18 14 43.75 SPTA1 0 genome.wustl.edu 37 1 158637764 158637764 + Missense_Mutation SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 158637764 158637764 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.1922 p.Q641R 0.992 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 126 0 0.00 84 86 50.59 SPTA1 0 genome.wustl.edu 37 1 158654936 158654936 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 158654936 158654936 A C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.226 p.L76V 0.008 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 82 0 0.00 63 53 45.69 SPTBN4 0 genome.wustl.edu 37 19 41078333 41078333 + RNA SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 41078333 41078333 C T SNP SPTBN4 ENST00000593816 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPTBN4 HGNC ENSG00000160460 tier1 - - 64 0 0.00 36 25 40.98 SSTR5 0 genome.wustl.edu 37 16 1129924 1129924 + Silent SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 16 1129924 1129924 C T SNP SSTR5 ENST00000293897 human ensembl 74_37 +1 known silent c.1056 p.R352 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors SSTR5 HGNC ENSG00000162009 tier1 - - 31 0 0.00 27 23 46.00 STAG1 0 genome.wustl.edu 37 3 136221515 136221515 + Silent SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 136221515 136221515 C T SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known silent c.783 p.K261 1.000 pfam_STAG,superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 tier1 - - 61 0 0.00 36 39 52.00 STK32B 0 genome.wustl.edu 37 4 5469797 5469797 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 5469797 5469797 A C SNP STK32B ENST00000282908 human ensembl 74_37 +1 known missense c.1106 p.K369T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK32B HGNC ENSG00000152953 27 0 0.00 33 6 15.38 STX6 0 genome.wustl.edu 37 1 180962536 180962536 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 180962536 180962536 G A SNP STX6 ENST00000258301 human ensembl 74_37 -1 known missense c.326 p.S109L 1.000 superfamily_t-SNARE pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC ENSG00000135823 tier1 - - 67 0 0.00 85 7 7.61 TANC1 0 genome.wustl.edu 37 2 160050795 160050795 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 160050795 160050795 G A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.2770 p.A924T 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 tier1 - - 53 0 0.00 57 4 6.56 TBCEL 0 genome.wustl.edu 37 11 120916423 120916423 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 11 120916423 120916423 T G SNP TBCEL ENST00000422003 human ensembl 74_37 +1 known missense c.24 p.S8R 1.000 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 tier1 - - 83 0 0.00 10 48 82.76 TBX18 0 genome.wustl.edu 37 6 85398374 85398374 + Missense_Mutation SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 85398374 85398374 A C SNP TBX18 ENST00000606784 human ensembl 74_37 -1 putative missense c.637 p.L213V 0.013 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 tier1 - - 41 0 0.00 20 15 42.86 TDRD15 0 genome.wustl.edu 37 2 21360458 21360458 + Missense_Mutation SNP A A G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 21360458 21360458 A G SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.119 p.E40G 1.000 pfam_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 46 0 0.00 17 31 64.58 TGM6 0 genome.wustl.edu 37 20 2375225 2375225 + Silent SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 20 2375225 2375225 C T SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known silent c.135 p.S45 0.015 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 tier1 - - 24 0 0.00 29 20 40.82 TIAM1 0 genome.wustl.edu 37 21 32537342 32537342 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 21 32537342 32537342 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.2928 p.T976 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 36 0 0.00 33 10 23.26 TIGD7 0 genome.wustl.edu 37 16 3350227 3350227 + Nonsense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 16 3350227 3350227 G A SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known nonsense c.388 p.R130* 1.000 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 tier1 - - 38 0 0.00 34 5 12.82 TLL1 0 genome.wustl.edu 37 4 166795097 166795097 + Missense_Mutation SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 166795097 166795097 T C SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.41 p.L14P 1.000 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 71 0 0.00 66 26 28.26 TMEM67 0 genome.wustl.edu 37 8 94822043 94822043 + Missense_Mutation SNP G G C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 8 94822043 94822043 G C SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.2692 p.D898H 1.000 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 tier1 - - 72 0 0.00 101 15 12.93 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 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 rs121913343 - 416 0 0.00 79 210 72.41 TRIM42 0 genome.wustl.edu 37 3 140406766 140406766 + Silent SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 140406766 140406766 T C SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known silent c.1242 p.Y414 0.000 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 33 0 0.00 27 9 25.00 TRIM71 0 genome.wustl.edu 37 3 32931919 32931919 + Missense_Mutation SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 32931919 32931919 T C SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.1223 p.L408P 1.000 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 tier1 - - 67 0 0.00 168 12 6.67 TRPM6 0 genome.wustl.edu 37 9 77370357 77370357 + Missense_Mutation SNP G G C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 9 77370357 77370357 G C SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.4818 p.D1606E 0.048 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 tier1 - - 57 0 0.00 28 12 30.00 TXNRD2 0 genome.wustl.edu 37 22 19902752 19902752 + Silent SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 22 19902752 19902752 C T SNP TXNRD2 ENST00000535882 human ensembl 74_37 -1 known silent c.573 p.P191 0.011 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC ENSG00000184470 tier1 - - 24 0 0.00 11 13 54.17 UBA6-AS1 0 genome.wustl.edu 37 4 68928467 68928467 + RNA SNP A A C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 68928467 68928467 A C SNP UBA6-AS1 ENST00000500538 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors UBA6-AS1 HGNC ENSG00000248049 tier1 - - 56 0 0.00 49 15 23.44 ULK4P2 0 genome.wustl.edu 37 15 30875162 30875162 + Splice_Site SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 15 30875162 30875162 T C SNP ULK4P2 ENST00000561753 human ensembl 74_37 +1 putative splice_site c.NULL NULL 0.985 - - - no_errors ULK4P2 HGNC ENSG00000260128 145 0 0.00 86 5 5.49 VNN1 0 genome.wustl.edu 37 6 133015257 133015257 + Missense_Mutation SNP C C A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 133015257 133015257 C A SNP VNN1 ENST00000367928 human ensembl 74_37 -1 known missense c.406 p.V136L 0.999 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN1 HGNC ENSG00000112299 tier1 - - 65 0 0.00 31 11 26.19 WASF3 0 genome.wustl.edu 37 13 27250861 27250862 + Frame_Shift_Ins INS - - GT TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 13 27250861 27250862 - GT INS WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_ins c.716_717 p.S240fs 1.000:1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 tier1 83 0 0.00 44 11 20.00 WDR12 0 genome.wustl.edu 37 2 203745605 203745605 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 2 203745605 203745605 G A SNP WDR12 ENST00000261015 human ensembl 74_37 -1 known missense c.1250 p.T417I 0.943 pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR12 HGNC ENSG00000138442 tier1 - - 45 0 0.00 12 8 40.00 WDR17 0 genome.wustl.edu 37 4 177094487 177094487 + Missense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 4 177094487 177094487 G T SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.3431 p.R1144L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 tier1 - - 75 0 0.00 20 17 45.95 XPC 0 genome.wustl.edu 37 3 14219966 14219968 + In_Frame_Del DEL CCT CCT - TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 14219966 14219968 CCT - DEL XPC ENST00000285021 human ensembl 74_37 -1 known in_frame_del c.103_101 p.E34in_frame_del 0.927:0.902:0.864 NULL pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 tier1 11 0 0.00 16 3 15.79 ZBBX 0 genome.wustl.edu 37 3 167039988 167039988 + Missense_Mutation SNP T T A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 167039988 167039988 T A SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.900 p.K300N 1.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 tier1 - - 67 0 0.00 38 34 47.22 ZFP14 0 genome.wustl.edu 37 19 36831221 36831221 + Missense_Mutation SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 36831221 36831221 T C SNP ZFP14 ENST00000270001 human ensembl 74_37 -1 known missense c.1507 p.T503A 0.988 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 ZFP14 HGNC ENSG00000142065 tier1 - - 45 0 0.00 38 24 38.71 ZIC4 0 genome.wustl.edu 37 3 147106563 147106563 + RNA SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 3 147106563 147106563 C T SNP ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 0.957 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 37 0 0.00 20 39 66.10 ZNF192P1 0 genome.wustl.edu 37 6 28134976 28134976 + RNA SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 6 28134976 28134976 T C SNP ZNF192P1 ENST00000440790 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors ZNF192P1 HGNC ENSG00000226314 tier1 - - 57 0 0.00 39 5 11.36 ZNF43 0 genome.wustl.edu 37 19 21990665 21990665 + Missense_Mutation SNP T T G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 21990665 21990665 T G SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.2174 p.K725T 0.682 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 ZNF43 HGNC ENSG00000198521 tier1 - - 49 0 0.00 38 11 22.45 ZNF496 0 genome.wustl.edu 37 1 247464406 247464406 + Silent SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 1 247464406 247464406 G A SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known silent c.1287 p.T429 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 tier1 - - 59 0 0.00 49 36 42.35 ZNF667 0 genome.wustl.edu 37 19 56981328 56981328 + Missense_Mutation SNP C C G TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 56981328 56981328 C G SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.97 p.V33L 0.003 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 ZNF667 HGNC ENSG00000198046 tier1 - - 55 0 0.00 10 37 78.72 ZNF680 0 genome.wustl.edu 37 7 63981863 63981863 + Silent SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 7 63981863 63981863 T C SNP ZNF680 ENST00000309683 human ensembl 74_37 -1 known silent c.1269 p.R423 0.255 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 ZNF680 HGNC ENSG00000173041 tier1 - - 47 0 0.00 37 10 21.28 ZNF829 0 genome.wustl.edu 37 19 37383030 37383030 + Missense_Mutation SNP A A T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 37383030 37383030 A T SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known missense c.906 p.F302L 0.930 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 ZNF829 HGNC ENSG00000185869 tier1 - - 60 0 0.00 22 15 40.54 ZNF83 0 genome.wustl.edu 37 19 53117750 53117750 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 53117750 53117750 G A SNP ZNF83 ENST00000301096 human ensembl 74_37 -1 known missense c.68 p.S23L 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 39 0 0.00 24 3 11.11 ZNF831 0 genome.wustl.edu 37 20 57766158 57766158 + Silent SNP T T C TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 20 57766158 57766158 T C SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.84 p.G28 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 35 0 0.00 64 7 9.86 ZNRF4 0 genome.wustl.edu 37 19 5455945 5455945 + Missense_Mutation SNP C C T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5037c10c-48fe-4a49-9a26-2f0d2ebac3f5 05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1 19 5455945 5455945 C T SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known missense c.443 p.P148L 0.631 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 tier1 - - 43 0 0.00 26 21 44.68