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 DBT 0 genome.wustl.edu 37 1 100672100 100672100 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 100672100 100672100 G A SNP DBT ENST00000370132 human ensembl 74_37 -1 known silent c.1110 p.I370 0.982 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors DBT HGNC ENSG00000137992 225 0 0 127 72 36.1809 VCAM1 0 genome.wustl.edu 37 1 101197054 101197054 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 101197054 101197054 C T SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known missense c.1505 p.T502M 0.975 pfam_Ig_C2-set pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 71 0 0 28 17 37.7778 COL11A1 0 genome.wustl.edu 37 1 103354303 103354303 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 103354303 103354303 G A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.4566 p.G1522 0.991 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 58 0 0 12 16 57.1429 AMY1C 0 genome.wustl.edu 37 1 104297194 104297194 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 104297194 104297194 C T SNP AMY1C ENST00000370079 human ensembl 74_37 +1 known nonsense c.952 p.R318* 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY1C HGNC ENSG00000187733 127 0 0 84 32 27.5862 CASZ1 0 genome.wustl.edu 37 1 10699614 10699614 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 10699614 10699614 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.4665 p.A1555 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 24 0 0 7 39 84.7826 CASZ1 0 genome.wustl.edu 37 1 10725588 10725588 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 10725588 10725588 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.57 p.P19 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 23 0 0 3 9 75 SARS 0 genome.wustl.edu 37 1 109756660 109756660 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 109756660 109756660 C A SNP SARS ENST00000369923 human ensembl 74_37 +1 known missense c.46 p.P16T 1.000 pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 30 0 0 32 21 39.6226 STRIP1 0 genome.wustl.edu 37 1 110582098 110582098 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 110582098 110582098 C T SNP STRIP1 ENST00000369795 human ensembl 74_37 +1 known missense c.542 p.T181M 1.000 pfam_N1221 pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC ENSG00000143093 11 0 0 13 8 38.0952 MTOR 0 genome.wustl.edu 37 1 11167517 11167517 + RNA SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 11167517 11167517 G A SNP MTOR ENST00000473471 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTOR HGNC ENSG00000198793 58 0 0 36 26 41.9355 ANGPTL7 0 genome.wustl.edu 37 1 11249874 11249874 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 11249874 11249874 C T SNP ANGPTL7 ENST00000376819 human ensembl 74_37 +1 known nonsense c.238 p.Q80* 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL7 HGNC ENSG00000171819 36 0 0 25 2 7.40741 WDR3 0 genome.wustl.edu 37 1 118488721 118488721 + Missense_Mutation SNP G G C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 118488721 118488721 G C SNP WDR3 ENST00000349139 human ensembl 74_37 +1 known missense c.1341 p.Q447H 1.000 smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 92 0 0 27 16 37.2093 HSD3B2 0 genome.wustl.edu 37 1 119962129 119962129 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 119962129 119962129 C T SNP HSD3B2 ENST00000369416 human ensembl 74_37 +1 known silent c.231 p.V77 0.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR - no_errors HSD3B2 HGNC ENSG00000203859 45 0 0 8 33 80.4878 ZNF697 0 genome.wustl.edu 37 1 120165559 120165559 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 120165559 120165559 C T SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known silent c.1407 p.Q469 0.992 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 14 0 0 17 9 34.6154 HNRNPCL1 0 genome.wustl.edu 37 1 12908039 12908039 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 12908039 12908039 G A SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.104 p.A35V 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 244 0 0 186 11 5.58376 PRAMEF18 0 genome.wustl.edu 37 1 13474888 13474888 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 13474888 13474888 G A SNP PRAMEF18 ENST00000376126 human ensembl 74_37 -1 putative missense c.1241 p.A414V 0.859 NULL NULL - no_errors PRAMEF18 HGNC ENSG00000204491 52 0 0 20 14 41.1765 PDPN 0 genome.wustl.edu 37 1 13910521 13910521 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 13910521 13910521 C T SNP PDPN ENST00000294489 human ensembl 74_37 +1 known missense c.221 p.T74M 0.001 NULL pfam_Podoplanin - no_errors PDPN HGNC ENSG00000162493 45 0 0 42 30 41.6667 PDE4DIP 0 genome.wustl.edu 37 1 144857705 144857705 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 144857705 144857705 G A SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.6349 p.R2117W 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 162 0 0 137 23 14.375 PDE4DIP 0 genome.wustl.edu 37 1 144859846 144859846 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 144859846 144859846 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.6238 p.A2080T 0.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 75 0 0 73 23 23.9583 PDE4DIP 0 genome.wustl.edu 37 1 144879338 144879338 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 144879338 144879338 A G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.4112 p.V1371A 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 240 0 0 164 53 24.424 PDE4DIP 0 genome.wustl.edu 37 1 145075648 145075648 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 145075648 145075648 G A SNP PDE4DIP ENST00000369348 human ensembl 74_37 -1 known missense c.215 p.A72V 0.799 NULL pfam_Spindle_assoc - no_errors PDE4DIP HGNC ENSG00000178104 76 0 0 157 19 10.7955 ATAD3A 0 genome.wustl.edu 37 1 1454368 1454368 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 1454368 1454368 G A SNP ATAD3A ENST00000378755 human ensembl 74_37 +1 known missense c.656 p.R219Q 1.000 pfam_DUF3523 pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3A HGNC ENSG00000197785 118 0 0 151 33 17.9348 CHD1L 0 genome.wustl.edu 37 1 146751709 146751709 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 146751709 146751709 T C SNP CHD1L ENST00000369258 human ensembl 74_37 +1 known missense c.1550 p.I517T 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 49 0 0 31 21 40.3846 ZNF687 0 genome.wustl.edu 37 1 151262928 151262928 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 151262928 151262928 G A SNP ZNF687 ENST00000324048 human ensembl 74_37 +1 known missense c.3098 p.R1033H 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 73 0 0 58 45 43.6893 RFX5 0 genome.wustl.edu 37 1 151318748 151318748 + Missense_Mutation SNP C C G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 151318748 151318748 C G SNP RFX5 ENST00000290524 human ensembl 74_37 -1 known missense c.49 p.A17P 0.918 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 105 0 0 76 59 43.7037 CGN 0 genome.wustl.edu 37 1 151491681 151491681 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 151491681 151491681 G A SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.686 p.R229H 0.000 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 123 1 0.806452 101 69 40.5882 LCE1D 0 genome.wustl.edu 37 1 152770577 152770577 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 152770577 152770577 G A SNP LCE1D ENST00000326233 human ensembl 74_37 +1 known missense c.307 p.G103S 0.984 NULL NULL - no_errors LCE1D HGNC ENSG00000172155 76 0 0 70 31 30.6931 FLAD1 0 genome.wustl.edu 37 1 154961353 154961353 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 154961353 154961353 A G SNP FLAD1 ENST00000368431 human ensembl 74_37 +1 novel missense c.848 p.Y283C 0.000 NULL pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom - no_errors FLAD1 HGNC ENSG00000160688 29 0 0 20 13 39.3939 GBA 0 genome.wustl.edu 37 1 155205593 155205593 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 155205593 155205593 C A SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.1267 p.A423S 1.000 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 45 0 0 26 11 29.7297 LMNA 0 genome.wustl.edu 37 1 156108328 156108328 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 156108328 156108328 C T SNP LMNA ENST00000368300 human ensembl 74_37 +1 known missense c.1748 p.S583L 0.998 NULL pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 30 0 0 21 12 36.3636 SEMA4A 0 genome.wustl.edu 37 1 156146501 156146501 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 156146501 156146501 A G SNP SEMA4A ENST00000355014 human ensembl 74_37 +1 known missense c.1999 p.R667G 0.994 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4A HGNC ENSG00000196189 44 0 0 34 26 43.3333 CD1D 0 genome.wustl.edu 37 1 158152725 158152725 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 158152725 158152725 T G SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.665 p.L222R 0.999 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 92 0 0 22 115 83.9416 KCNJ9 0 genome.wustl.edu 37 1 160054211 160054211 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 160054211 160054211 C T SNP KCNJ9 ENST00000368088 human ensembl 74_37 +1 known nonsense c.391 p.Q131* 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3 - no_errors KCNJ9 HGNC ENSG00000162728 43 0 0 36 23 38.9831 HSPA6 0 genome.wustl.edu 37 1 161495291 161495291 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 161495291 161495291 G T SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.843 p.Q281H 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 33 0 0 26 19 42.2222 ATF6 0 genome.wustl.edu 37 1 161816299 161816299 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 161816299 161816299 G A SNP ATF6 ENST00000367942 human ensembl 74_37 +1 known silent c.1248 p.R416 0.999 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6 HGNC ENSG00000118217 65 0 0 35 17 32.6923 EPHA2 0 genome.wustl.edu 37 1 16458317 16458317 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 16458317 16458317 G A SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.2374 p.R792W 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_Interferon_alpha/beta_rcpt_bsu,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 EPHA2 HGNC ENSG00000142627 34 0 0 34 21 38.1818 LRRC52 0 genome.wustl.edu 37 1 165513572 165513572 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 165513572 165513572 C T SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known silent c.39 p.L13 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 87 0 0 33 37 52.8571 DUSP27 0 genome.wustl.edu 37 1 167096928 167096928 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 167096928 167096928 T C SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.2560 p.Y854H 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 39 0 0 24 15 38.4615 NADK 0 genome.wustl.edu 37 1 1688041 1688041 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 1688041 1688041 T C SNP NADK ENST00000344463 human ensembl 74_37 -1 known missense c.835 p.M279V 1.000 superfamily_ATP-NAD_kinase_PpnK-typ pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 56 0 0 25 13 34.2105 CEP350 0 genome.wustl.edu 37 1 180063357 180063357 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 180063357 180063357 A G SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.8117 p.N2706S 0.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 25 0 0 5 3 37.5 KLHDC7A 0 genome.wustl.edu 37 1 18809240 18809240 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 18809240 18809240 G A SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.1765 p.G589R 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 21 0 0 23 15 39.4737 CFH 0 genome.wustl.edu 37 1 196695710 196695710 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 196695710 196695710 A G SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1984 p.R662G 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 71 0 0 29 5 14.7059 ASPM 0 genome.wustl.edu 37 1 197099066 197099066 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 197099066 197099066 C T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.2608 p.V870I 1.000 superfamily_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 59 0 0 55 3 5.17241 IGFN1 0 genome.wustl.edu 37 1 201184907 201184907 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 201184907 201184907 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.9236 p.S3079N 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 15 0 0 15 10 40 PKP1 0 genome.wustl.edu 37 1 201253030 201253030 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 201253030 201253030 G A SNP PKP1 ENST00000263946 human ensembl 74_37 +1 known missense c.200 p.R67Q 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 32 0 0 17 19 52.7778 TMEM183A 0 genome.wustl.edu 37 1 202992135 202992135 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 202992135 202992135 G A SNP TMEM183A ENST00000367242 human ensembl 74_37 +1 known nonsense c.1098 p.W366* 1.000 NULL superfamily_F-box_dom - no_errors TMEM183A HGNC ENSG00000163444 53 0 0 42 34 44.7368 ATP2B4 0 genome.wustl.edu 37 1 203677055 203677055 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 203677055 203677055 C T SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known silent c.1380 p.T460 0.002 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase 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 ATP2B4 HGNC ENSG00000058668 117 0 0 47 36 43.3735 PIK3C2B 0 genome.wustl.edu 37 1 204399062 204399062 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 204399062 204399062 G A SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.4385 p.P1462L 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 59 0 0 73 46 38.6555 MFSD4 0 genome.wustl.edu 37 1 205561221 205561221 + RNA SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 205561221 205561221 G A SNP MFSD4 ENST00000465651 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MFSD4 HGNC ENSG00000174514 31 0 0 14 10 41.6667 CR1L 0 genome.wustl.edu 37 1 207818619 207818619 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 207818619 207818619 G A SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.41 p.R14Q 0.002 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 68 0 0 61 48 44.0367 PLXNA2 0 genome.wustl.edu 37 1 208390360 208390360 + Missense_Mutation SNP G G C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 208390360 208390360 G C SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.908 p.A303G 0.326 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,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 PLXNA2 HGNC ENSG00000076356 52 0 0 65 22 25.2874 DTL 0 genome.wustl.edu 37 1 212273987 212273987 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 212273987 212273987 A G SNP DTL ENST00000366991 human ensembl 74_37 +1 known missense c.1655 p.K552R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DTL HGNC ENSG00000143476 73 0 0 36 21 36.8421 ATF3 0 genome.wustl.edu 37 1 212788387 212788387 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 212788387 212788387 G T SNP ATF3 ENST00000341491 human ensembl 74_37 +1 known missense c.24 p.Q8H 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors ATF3 HGNC ENSG00000162772 70 0 0 52 44 45.8333 USH2A 0 genome.wustl.edu 37 1 216497693 216497693 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 216497693 216497693 A C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.1145 p.V382G 1.000 smart_Laminin_N,pfscan_Laminin_N pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 13 0 0 9 11 55 HSPG2 0 genome.wustl.edu 37 1 22174580 22174580 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 22174580 22174580 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.7744 p.G2582S 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 11 0 0 6 9 60 NUP133 0 genome.wustl.edu 37 1 229643960 229643960 + Missense_Mutation SNP T T A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 229643960 229643960 T A SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.37 p.T13S 0.007 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 10 0 0 9 7 43.75 EPHB2 0 genome.wustl.edu 37 1 23111249 23111249 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 23111249 23111249 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.491 p.R164Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 28 0 0 32 18 36 PCNXL2 0 genome.wustl.edu 37 1 233134088 233134088 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 233134088 233134088 C T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known silent c.5700 p.P1900 0.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 36 0 0 42 30 41.6667 PLD5 0 genome.wustl.edu 37 1 242428713 242428713 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 242428713 242428713 G A SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known missense c.533 p.S178L 0.944 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 47 0 0 44 4 8.33333 KIF26B 0 genome.wustl.edu 37 1 245849742 245849742 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 245849742 245849742 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.3457 p.D1153N 0.007 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 84 0 0 64 31 32.6316 NLRP3 0 genome.wustl.edu 37 1 247588307 247588307 + Missense_Mutation SNP T T A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 247588307 247588307 T A SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.1562 p.I521N 1.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 43 0 0 24 20 45.4545 OR2M5 0 genome.wustl.edu 37 1 248309098 248309098 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 248309098 248309098 T C SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.649 p.S217P 0.025 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 OR2M5 HGNC ENSG00000162727 273 0 0 163 103 38.7218 OR2M4 0 genome.wustl.edu 37 1 248402974 248402974 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 248402974 248402974 C T SNP OR2M4 ENST00000306687 human ensembl 74_37 +1 known silent c.744 p.V248 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 OR2M4 HGNC ENSG00000171180 69 0 0 41 30 42.2535 ARID1A 0 genome.wustl.edu 37 1 27100207 27100207 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 27100207 27100207 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.4003 p.R1335* 0.945 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 ARID1A HGNC ENSG00000117713 138 0 0 102 61 37.4233 SYTL1 0 genome.wustl.edu 37 1 27677388 27677388 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 27677388 27677388 C T SNP SYTL1 ENST00000543823 human ensembl 74_37 +1 known missense c.1109 p.P370L 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL1 HGNC ENSG00000142765 46 0 0 37 35 48.6111 MAP3K6 0 genome.wustl.edu 37 1 27691373 27691373 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 27691373 27691373 A G SNP MAP3K6 ENST00000357582 human ensembl 74_37 -1 known missense c.371 p.L124P 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 38 0 0 43 22 33.8462 PTPRU 0 genome.wustl.edu 37 1 29641884 29641884 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 29641884 29641884 C T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known silent c.3258 p.S1086 0.990 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 60 0 0 50 29 36.7089 COL16A1 0 genome.wustl.edu 37 1 32127954 32127954 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 32127954 32127954 T C SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known missense c.3662 p.D1221G 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 13 0 0 18 4 18.1818 TMEM39B 0 genome.wustl.edu 37 1 32557559 32557559 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 32557559 32557559 A G SNP TMEM39B ENST00000336294 human ensembl 74_37 +1 known missense c.874 p.S292G 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39B HGNC ENSG00000121775 33 0 0 32 13 28.8889 LCK 0 genome.wustl.edu 37 1 32740365 32740365 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 32740365 32740365 C T SNP LCK ENST00000333070 human ensembl 74_37 +1 known missense c.133 p.R45W 0.998 superfamily_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LCK HGNC ENSG00000182866 44 0 0 37 16 30.1887 RBBP4 0 genome.wustl.edu 37 1 33134370 33134370 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 33134370 33134370 G A SNP RBBP4 ENST00000373493 human ensembl 74_37 +1 known missense c.515 p.R172H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP4 HGNC ENSG00000162521 56 0 0 45 4 8.16327 ZSCAN20 0 genome.wustl.edu 37 1 33959045 33959045 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 33959045 33959045 T C SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.1703 p.L568P 0.998 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 109 0 0 113 70 38.2514 TRIT1 0 genome.wustl.edu 37 1 40309782 40309782 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 40309782 40309782 C T SNP TRIT1 ENST00000316891 human ensembl 74_37 -1 known missense c.1225 p.E409K 0.997 pfam_Znf_C2H2_jaz,smart_Znf_U1 pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,superfamily_P-loop_NTPase,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 67 0 0 29 18 38.2979 TIE1 0 genome.wustl.edu 37 1 43785110 43785110 + RNA SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 43785110 43785110 T C SNP TIE1 ENST00000492599 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors TIE1 HGNC ENSG00000066056 101 0 0 68 68 50 KDM4A 0 genome.wustl.edu 37 1 44131409 44131409 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 44131409 44131409 C T SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known silent c.666 p.L222 0.033 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 57 0 0 32 25 43.8596 RNF220 0 genome.wustl.edu 37 1 44877843 44877843 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 44877843 44877843 T G SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known missense c.74 p.L25R 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 115 0 0 70 71 50.3546 CYP4B1 0 genome.wustl.edu 37 1 47280920 47280920 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 47280920 47280920 C T SNP CYP4B1 ENST00000371923 human ensembl 74_37 +1 known nonsense c.1057 p.Q353* 0.017 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 38 0 0 22 5 18.5185 CYP4X1 0 genome.wustl.edu 37 1 47512174 47512174 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 47512174 47512174 G A SNP CYP4X1 ENST00000371901 human ensembl 74_37 +1 known missense c.1109 p.C370Y 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4X1 HGNC ENSG00000186377 41 0 0 25 12 32.4324 SELRC1 0 genome.wustl.edu 37 1 53153414 53153414 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 53153414 53153414 A G SNP SELRC1 ENST00000371538 human ensembl 74_37 -1 known missense c.674 p.V225A 0.166 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SELRC1 HGNC ENSG00000162377 49 0 0 24 13 35.1351 CHD5 0 genome.wustl.edu 37 1 6181285 6181285 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 6181285 6181285 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.4792 p.A1598T 0.650 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 33 0 0 22 21 48.8372 CHD5 0 genome.wustl.edu 37 1 6206467 6206467 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 6206467 6206467 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.1607 p.T536M 1.000 superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 56 0 0 19 19 50 IL12RB2 0 genome.wustl.edu 37 1 67833651 67833651 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 67833651 67833651 C T SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known nonsense c.1402 p.Q468* 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 87 0 0 63 38 37.6238 DEPDC1 0 genome.wustl.edu 37 1 68948473 68948473 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 68948473 68948473 T C SNP DEPDC1 ENST00000456315 human ensembl 74_37 -1 known missense c.1018 p.K340E 1.000 superfamily_Rho_GTPase_activation_prot pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 78 0 0 34 30 46.875 MSH4 0 genome.wustl.edu 37 1 76344799 76344799 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 76344799 76344799 T C SNP MSH4 ENST00000263187 human ensembl 74_37 +1 known missense c.1663 p.S555P 1.000 pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 34 0 0 15 13 46.4286 PRKACB 0 genome.wustl.edu 37 1 84649798 84649798 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 84649798 84649798 C T SNP PRKACB ENST00000370685 human ensembl 74_37 +1 known nonsense c.457 p.R153* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACB HGNC ENSG00000142875 59 0 0 23 16 41.0256 MCOLN3 0 genome.wustl.edu 37 1 85494960 85494960 + RNA SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 85494960 85494960 G T SNP MCOLN3 ENST00000475312 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MCOLN3 HGNC ENSG00000055732 10 0 0 6 6 50 SLC2A5 0 genome.wustl.edu 37 1 9098963 9098963 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 9098963 9098963 C T SNP SLC2A5 ENST00000377424 human ensembl 74_37 -1 known missense c.1022 p.R341Q 0.949 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt - no_errors SLC2A5 HGNC ENSG00000142583 13 0 0 13 6 31.5789 CCDC18 0 genome.wustl.edu 37 1 93667456 93667456 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 93667456 93667456 C T SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known nonsense c.1060 p.R354* 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 38 0 0 12 4 25 PTBP2 0 genome.wustl.edu 37 1 97272007 97272007 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 97272007 97272007 C T SNP PTBP2 ENST00000394184 human ensembl 74_37 +1 known silent c.1125 p.F375 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP2 HGNC ENSG00000117569 101 0 0 63 42 40 HPSE2 0 genome.wustl.edu 37 10 100481427 100481427 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 100481427 100481427 C T SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known missense c.943 p.A315T 0.998 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 44 0 0 49 18 26.8657 LBX1 0 genome.wustl.edu 37 10 102987446 102987446 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 102987446 102987446 G A SNP LBX1 ENST00000370193 human ensembl 74_37 -1 known missense c.427 p.R143C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 119 0 0 137 45 24.7253 PSD 0 genome.wustl.edu 37 10 104174786 104174786 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 104174786 104174786 T C SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.958 p.S320G 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 47 0 0 51 19 27.1429 NT5C2 0 genome.wustl.edu 37 10 104934693 104934693 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 104934693 104934693 C T SNP NT5C2 ENST00000343289 human ensembl 74_37 -1 known missense c.23 p.R8Q 1.000 pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC ENSG00000076685 132 0 0 112 33 22.7586 IDI1 0 genome.wustl.edu 37 10 1088622 1088622 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 1088622 1088622 G A SNP IDI1 ENST00000381344 human ensembl 74_37 -1 known nonsense c.487 p.R163* 0.346 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI1 HGNC ENSG00000067064 66 0 0 48 19 28.3582 WDR37 0 genome.wustl.edu 37 10 1118155 1118155 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 1118155 1118155 C A SNP WDR37 ENST00000263150 human ensembl 74_37 +1 known silent c.60 p.S20 0.669 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 WDR37 HGNC ENSG00000047056 86 0 0 89 27 23.2759 PDCD4 0 genome.wustl.edu 37 10 112644996 112644996 + RNA SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 112644996 112644996 C A SNP PDCD4 ENST00000481353 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PDCD4 HGNC ENSG00000150593 58 0 0 55 23 29.4872 VWA2 0 genome.wustl.edu 37 10 116020979 116020979 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 116020979 116020979 C A SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known missense c.296 p.P99H 0.854 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 86 0 0 69 23 25 AFAP1L2 0 genome.wustl.edu 37 10 116057157 116057157 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 116057157 116057157 G A SNP AFAP1L2 ENST00000545353 human ensembl 74_37 -1 known missense c.2288 p.A763V 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC ENSG00000169129 24 0 0 24 18 42.8571 FAM53B 0 genome.wustl.edu 37 10 126311936 126311936 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 126311936 126311936 C T SNP FAM53B ENST00000337318 human ensembl 74_37 -1 known missense c.1144 p.A382T 0.000 NULL NULL - no_errors FAM53B HGNC ENSG00000189319 34 0 0 44 27 38.0282 CTBP2 0 genome.wustl.edu 37 10 126691652 126691652 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 126691652 126691652 C T SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.1855 p.A619T 1.000 pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 55 0 0 60 20 25 DHX32 0 genome.wustl.edu 37 10 127530326 127530326 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 127530326 127530326 G A SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known missense c.1529 p.A510V 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 47 0 0 32 13 28.8889 ADAM12 0 genome.wustl.edu 37 10 127824144 127824144 + RNA SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 127824144 127824144 G A SNP ADAM12 ENST00000494661 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADAM12 HGNC ENSG00000148848 32 0 0 29 10 25.641 EBF3 0 genome.wustl.edu 37 10 131640510 131640510 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 131640510 131640510 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known silent c.1242 p.S414 0.468 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 112 0 0 180 67 27.1255 ADAM8 0 genome.wustl.edu 37 10 135083463 135083463 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 135083463 135083463 G A SNP ADAM8 ENST00000445355 human ensembl 74_37 -1 known missense c.1801 p.R601C 0.000 smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM8 HGNC ENSG00000151651 62 0 0 79 39 33.0508 FAM171A1 0 genome.wustl.edu 37 10 15290656 15290656 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 15290656 15290656 G A SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.736 p.R246W 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 65 0 0 88 39 30.7087 SPAG6 0 genome.wustl.edu 37 10 22634743 22634743 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 22634743 22634743 C T SNP SPAG6 ENST00000376603 human ensembl 74_37 +1 known silent c.117 p.N39 1.000 NULL pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 13 0 0 23 9 28.125 MSRB2 0 genome.wustl.edu 37 10 23408166 23408166 + RNA SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 23408166 23408166 G A SNP MSRB2 ENST00000468633 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MSRB2 HGNC ENSG00000148450 39 0 0 30 10 25 SVIL 0 genome.wustl.edu 37 10 29775128 29775128 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 29775128 29775128 A G SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.4665 p.Y1555 0.999 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 84 0 0 59 26 30.5882 FZD8 0 genome.wustl.edu 37 10 35928502 35928502 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 35928502 35928502 C T SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known missense c.1856 p.R619H 1.000 pfam_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 20 0 0 40 14 25.9259 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 41 0 0 63 6 8.69565 RASGEF1A 0 genome.wustl.edu 37 10 43693537 43693537 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 43693537 43693537 G T SNP RASGEF1A ENST00000395809 human ensembl 74_37 -1 known missense c.1139 p.P380H 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1A HGNC ENSG00000198915 105 1 0.943396 87 28 24.3478 ZNF239 0 genome.wustl.edu 37 10 44052231 44052231 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 44052231 44052231 A G SNP ZNF239 ENST00000306006 human ensembl 74_37 -1 known missense c.1297 p.C433R 0.992 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF239 HGNC ENSG00000196793 48 0 0 40 21 34.4262 GDF10 0 genome.wustl.edu 37 10 48438579 48438579 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 48438579 48438579 G A SNP GDF10 ENST00000224605 human ensembl 74_37 -1 known silent c.132 p.P44 0.000 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 10 0 0 10 5 33.3333 FRMPD2 0 genome.wustl.edu 37 10 49459733 49459733 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 49459733 49459733 G A SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known silent c.27 p.G9 0.983 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 54 0 0 53 26 32.9114 SLC18A3 0 genome.wustl.edu 37 10 50819345 50819345 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 50819345 50819345 C A SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.559 p.L187M 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 40 0 0 59 17 22.3684 OGDHL 0 genome.wustl.edu 37 10 50946253 50946253 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 50946253 50946253 T G SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.2375 p.D792A 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 57 0 0 80 28 25.9259 FAM13C 0 genome.wustl.edu 37 10 61062600 61062600 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 61062600 61062600 C T SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known silent c.468 p.S156 0.997 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 79 0 0 59 17 22.3684 ANK3 0 genome.wustl.edu 37 10 61833851 61833851 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 61833851 61833851 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.6788 p.A2263V 0.061 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 122 0 0 110 29 20.8633 EGR2 0 genome.wustl.edu 37 10 64573489 64573489 + Silent SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 64573489 64573489 T G SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known silent c.909 p.A303 0.004 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 27 0 0 54 26 32.5 JMJD1C 0 genome.wustl.edu 37 10 64967739 64967739 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 64967739 64967739 T C SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known silent c.3690 p.P1230 0.995 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 102 0 0 64 22 25.5814 H2AFY2 0 genome.wustl.edu 37 10 71871427 71871427 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 71871427 71871427 C T SNP H2AFY2 ENST00000373255 human ensembl 74_37 +1 known silent c.1107 p.L369 0.600 pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 29 0 0 38 16 29.6296 PRF1 0 genome.wustl.edu 37 10 72358855 72358855 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 72358855 72358855 T C SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known missense c.622 p.T208A 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 42 0 0 55 15 21.4286 KAT6B 0 genome.wustl.edu 37 10 76790451 76790451 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 76790451 76790451 C T SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.5869 p.R1957W 0.988 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 122 0 0 150 50 25 DUPD1 0 genome.wustl.edu 37 10 76797703 76797703 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 76797703 76797703 G A SNP DUPD1 ENST00000338487 human ensembl 74_37 -1 known missense c.554 p.P185L 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUPD1 HGNC ENSG00000188716 57 0 0 84 20 19.2308 ZNF503 0 genome.wustl.edu 37 10 77158990 77158990 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 77158990 77158990 C T SNP ZNF503 ENST00000372524 human ensembl 74_37 -1 known silent c.1458 p.A486 0.518 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF503 HGNC ENSG00000165655 19 0 0 25 12 32.4324 ADIRF 0 genome.wustl.edu 37 10 88728342 88728342 + Missense_Mutation SNP A A T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 88728342 88728342 A T SNP ADIRF ENST00000372013 human ensembl 74_37 +1 known missense c.41 p.E14V 0.816 NULL NULL - no_errors ADIRF HGNC ENSG00000148671 26 0 0 32 11 25.5814 HTR7 0 genome.wustl.edu 37 10 92509261 92509261 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 92509261 92509261 G A SNP HTR7 ENST00000336152 human ensembl 74_37 -1 known silent c.630 p.S210 0.006 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 90 0 0 70 28 28.5714 TNKS2 0 genome.wustl.edu 37 10 93600433 93600433 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 93600433 93600433 A G SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.1643 p.H548R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 108 0 0 95 44 31.6547 TNKS2 0 genome.wustl.edu 37 10 93617285 93617285 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 93617285 93617285 A G SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.3092 p.H1031R 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 44 0 0 26 14 35 PLCE1 0 genome.wustl.edu 37 10 95931103 95931103 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 95931103 95931103 C T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.1659 p.V553 0.392 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 124 0 0 106 64 37.6471 BLNK 0 genome.wustl.edu 37 10 97964352 97964352 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 97964352 97964352 G A SNP BLNK ENST00000224337 human ensembl 74_37 -1 known missense c.838 p.R280C 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 64 0 0 52 23 30.6667 MMP12 0 genome.wustl.edu 37 11 102743659 102743659 + RNA SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 102743659 102743659 C T SNP MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MMP12 HGNC ENSG00000110347 31 0 0 14 12 46.1538 DDI1 0 genome.wustl.edu 37 11 103908603 103908603 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 103908603 103908603 C T SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known silent c.1053 p.I351 0.755 pfam_RVP_2 pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 67 0 0 32 18 36 TTC12 0 genome.wustl.edu 37 11 113220807 113220807 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 113220807 113220807 G A SNP TTC12 ENST00000314756 human ensembl 74_37 +1 known silent c.1167 p.A389 0.985 superfamily_ARM-type_fold pfam_TPR_1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 88 0 0 33 22 40 DRD2 0 genome.wustl.edu 37 11 113287588 113287588 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 113287588 113287588 C T SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known missense c.529 p.A177T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 20 0 0 19 12 38.7097 DKK3 0 genome.wustl.edu 37 11 12029972 12029972 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 12029972 12029972 T C SNP DKK3 ENST00000326932 human ensembl 74_37 -1 known missense c.158 p.E53G 1.000 NULL pfam_Dickkopf_N - no_errors DKK3 HGNC ENSG00000050165 19 0 0 23 14 37.8378 TECTA 0 genome.wustl.edu 37 11 120998812 120998812 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 120998812 120998812 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.2126 p.R709Q 0.991 smart_VWC_out,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 66 0 0 57 35 38.0435 SORL1 0 genome.wustl.edu 37 11 121475876 121475876 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 121475876 121475876 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.4706 p.G1569E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 102 0 0 72 37 33.945 FOXRED1 0 genome.wustl.edu 37 11 126147471 126147471 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 126147471 126147471 C T SNP FOXRED1 ENST00000263578 human ensembl 74_37 +1 known nonsense c.1348 p.R450* 0.996 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors FOXRED1 HGNC ENSG00000110074 55 0 0 35 18 33.9623 APLP2 0 genome.wustl.edu 37 11 129992283 129992283 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 129992283 129992283 A G SNP APLP2 ENST00000263574 human ensembl 74_37 +1 known missense c.797 p.E266G 1.000 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 76 0 0 37 35 48.6111 B3GAT1 0 genome.wustl.edu 37 11 134253988 134253988 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 134253988 134253988 G A SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known silent c.246 p.T82 0.414 NULL pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 27 0 0 12 11 47.8261 MYOD1 0 genome.wustl.edu 37 11 17741442 17741442 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 17741442 17741442 C T SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known missense c.113 p.P38L 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 64 0 0 46 45 49.4505 CD81 0 genome.wustl.edu 37 11 2418088 2418088 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 2418088 2418088 G A SNP CD81 ENST00000263645 human ensembl 74_37 +1 known missense c.703 p.V235M 1.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD81 HGNC ENSG00000110651 36 0 0 31 13 29.5455 DCDC1 0 genome.wustl.edu 37 11 30914483 30914483 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 30914483 30914483 C T SNP DCDC1 ENST00000406071 human ensembl 74_37 -1 known missense c.1169 p.R390H 0.000 NULL NULL - no_errors DCDC1 HGNC ENSG00000170959 75 0 0 40 25 38.4615 DCDC1 0 genome.wustl.edu 37 11 30926528 30926528 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 30926528 30926528 C T SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known missense c.1525 p.V509M 1.000 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 65 0 0 36 24 40 C11orf94 0 genome.wustl.edu 37 11 45928442 45928442 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 45928442 45928442 C T SNP C11orf94 ENST00000449465 human ensembl 74_37 -1 known silent c.153 p.Q51 0.674 NULL NULL - no_errors C11orf94 HGNC ENSG00000234776 82 0 0 69 51 42.5 PTPRJ 0 genome.wustl.edu 37 11 48177606 48177606 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 48177606 48177606 C T SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.3373 p.R1125C 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 137 0 0 53 31 36.9048 OR4B1 0 genome.wustl.edu 37 11 48239219 48239219 + Silent SNP A A T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 48239219 48239219 A T SNP OR4B1 ENST00000309562 human ensembl 74_37 +1 known silent c.858 p.T286 0.853 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4B1 HGNC ENSG00000175619 60 0 0 33 20 37.7358 OR5L2 0 genome.wustl.edu 37 11 55595253 55595253 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 55595253 55595253 C T SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.559 p.L187F 0.659 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 194 0 0 121 78 39.196 OR9G1 0 genome.wustl.edu 37 11 56468148 56468148 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 56468148 56468148 C T SNP OR9G1 ENST00000312153 human ensembl 74_37 +1 known silent c.285 p.G95 0.946 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G1 HGNC ENSG00000174914 133 0 0 93 21 18.4211 OR1S2 0 genome.wustl.edu 37 11 57971241 57971241 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 57971241 57971241 G A SNP OR1S2 ENST00000302592 human ensembl 74_37 -1 known missense c.413 p.A138V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S2 HGNC ENSG00000197887 123 0 0 60 58 49.1525 OR5B21 0 genome.wustl.edu 37 11 58275210 58275210 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 58275210 58275210 C T SNP OR5B21 ENST00000360374 human ensembl 74_37 -1 known silent c.369 p.A123 0.009 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 OR5B21 HGNC ENSG00000198283 43 0 0 29 14 32.5581 OR56A4 0 genome.wustl.edu 37 11 6023815 6023815 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 6023815 6023815 C T SNP OR56A4 ENST00000330728 human ensembl 74_37 -1 known silent c.564 p.P188 0.011 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 OR56A4 HGNC ENSG00000183389 41 0 0 22 13 37.1429 CCDC86 0 genome.wustl.edu 37 11 60617781 60617781 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 60617781 60617781 C T SNP CCDC86 ENST00000227520 human ensembl 74_37 +1 known missense c.1066 p.P356S 0.076 NULL NULL - no_errors CCDC86 HGNC ENSG00000110104 62 0 0 41 28 40.5797 OR56B4 0 genome.wustl.edu 37 11 6129814 6129814 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 6129814 6129814 C T SNP OR56B4 ENST00000316529 human ensembl 74_37 +1 known missense c.806 p.A269V 0.004 pfam_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR56B4 HGNC ENSG00000180919 87 0 0 42 17 28.8136 DAGLA 0 genome.wustl.edu 37 11 61511877 61511877 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 61511877 61511877 G A SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known silent c.3045 p.A1015 0.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 67 0 0 51 33 39.2857 AHNAK 0 genome.wustl.edu 37 11 62289568 62289568 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 62289568 62289568 A G SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.12321 p.G4107 0.182 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 142 1 0.699301 73 54 42.5197 FERMT3 0 genome.wustl.edu 37 11 63987213 63987213 + Missense_Mutation SNP A A T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 63987213 63987213 A T SNP FERMT3 ENST00000279227 human ensembl 74_37 +1 known missense c.1031 p.D344V 1.000 pfam_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC ENSG00000149781 90 0 0 77 43 35.8333 CDC42BPG 0 genome.wustl.edu 37 11 64594015 64594015 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 64594015 64594015 G T SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.4526 p.P1509H 0.999 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 8 0 0 5 5 50 ATG2A 0 genome.wustl.edu 37 11 64675299 64675299 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 64675299 64675299 G A SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.2428 p.R810C 0.988 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 20 0 0 19 8 29.6296 DNHD1 0 genome.wustl.edu 37 11 6592451 6592451 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 6592451 6592451 C T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.13709 p.A4570V 0.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 18 0 0 14 8 36.3636 DNHD1 0 genome.wustl.edu 37 11 6592454 6592454 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 6592454 6592454 A G SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.13712 p.D4571G 0.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 18 0 0 14 7 33.3333 NPAS4 0 genome.wustl.edu 37 11 66191381 66191381 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 66191381 66191381 G A SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known silent c.1020 p.P340 0.001 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 184 0 0 91 77 45.8333 DCHS1 0 genome.wustl.edu 37 11 6662364 6662364 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 6662364 6662364 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.481 p.R161C 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 36 0 0 28 18 39.1304 LRFN4 0 genome.wustl.edu 37 11 66625209 66625209 + RNA SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 66625209 66625209 G A SNP LRFN4 ENST00000531590 human ensembl 74_37 +1 putative rna NULL NULL 0.974 - - - no_errors LRFN4 HGNC ENSG00000173621 29 0 0 16 13 44.8276 TBC1D10C 0 genome.wustl.edu 37 11 67171768 67171768 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 67171768 67171768 G A SNP TBC1D10C ENST00000312390 human ensembl 74_37 +1 known missense c.95 p.G32D 0.021 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC ENSG00000175463 33 0 0 25 13 34.2105 GPR152 0 genome.wustl.edu 37 11 67218801 67218801 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 67218801 67218801 C T SNP GPR152 ENST00000312457 human ensembl 74_37 -1 known silent c.1395 p.P465 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR152 HGNC ENSG00000175514 68 0 0 62 32 34.0426 PITPNM1 0 genome.wustl.edu 37 11 67259711 67259711 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 67259711 67259711 C T SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known silent c.3528 p.S1176 0.980 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 28 0 0 26 17 39.5349 PPP6R3 0 genome.wustl.edu 37 11 68326104 68326104 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 68326104 68326104 G A SNP PPP6R3 ENST00000393799 human ensembl 74_37 +1 known missense c.802 p.A268T 1.000 pfam_SAPS,superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC ENSG00000110075 76 0 0 32 21 39.6226 SHANK2 0 genome.wustl.edu 37 11 70332856 70332856 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 70332856 70332856 C A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.3545 p.G1182V 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 49 0 0 41 33 44.5946 PDE2A 0 genome.wustl.edu 37 11 72295734 72295734 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 72295734 72295734 C T SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known silent c.1398 p.A466 0.570 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 34 0 0 34 19 35.8491 C2CD3 0 genome.wustl.edu 37 11 73811600 73811600 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 73811600 73811600 A C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.2702 p.L901R 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 77 0 0 68 4 5.55556 XRRA1 0 genome.wustl.edu 37 11 74563070 74563070 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 74563070 74563070 C T SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.1204 p.V402I 0.007 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 59 0 0 37 29 43.9394 SCYL2 0 genome.wustl.edu 37 12 100732521 100732521 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 100732521 100732521 C T SNP SCYL2 ENST00000360820 human ensembl 74_37 +1 known silent c.2361 p.P787 0.605 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SCYL2 HGNC ENSG00000136021 124 0 0 105 13 11.0169 NR1H4 0 genome.wustl.edu 37 12 100957258 100957258 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 100957258 100957258 C T SNP NR1H4 ENST00000551379 human ensembl 74_37 +1 known silent c.1452 p.D484 0.577 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 101 0 0 42 33 44 ANO4 0 genome.wustl.edu 37 12 101488050 101488050 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 101488050 101488050 C T SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.1718 p.A573V 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 41 0 0 22 11 33.3333 MYBPC1 0 genome.wustl.edu 37 12 102046519 102046519 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 102046519 102046519 T C SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known silent c.1590 p.P530 0.779 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 96 0 0 57 41 41.8367 ASCL1 0 genome.wustl.edu 37 12 103352248 103352248 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 103352248 103352248 G A SNP ASCL1 ENST00000266744 human ensembl 74_37 +1 known missense c.226 p.G76R 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL1 HGNC ENSG00000139352 10 0 0 8 4 33.3333 ENSG00000180574 0 genome.wustl.edu 37 12 10658572 10658572 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 10658572 10658572 A G SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known missense c.71 p.D24G 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 68 0 0 39 46 54.1176 UBE3B 0 genome.wustl.edu 37 12 109935661 109935661 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 109935661 109935661 G A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.752 p.R251Q 0.997 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 80 0 0 32 28 46.6667 TAS2R14 0 genome.wustl.edu 37 12 11091143 11091143 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 11091143 11091143 C T SNP TAS2R14 ENST00000537503 human ensembl 74_37 -1 known missense c.664 p.A222T 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R14 HGNC ENSG00000212127 54 0 0 27 12 30.7692 HECTD4 0 genome.wustl.edu 37 12 112681729 112681729 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 112681729 112681729 T G SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.4082 p.D1361A 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 96 0 0 52 46 46.9388 OAS3 0 genome.wustl.edu 37 12 113405292 113405292 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 113405292 113405292 C T SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.2759 p.A920V 0.006 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 16 0 0 11 11 50 LHX5 0 genome.wustl.edu 37 12 113905192 113905192 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 113905192 113905192 C T SNP LHX5 ENST00000261731 human ensembl 74_37 -1 known missense c.710 p.R237Q 0.964 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX5 HGNC ENSG00000089116 9 0 0 6 5 45.4545 RBM19 0 genome.wustl.edu 37 12 114377796 114377796 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 114377796 114377796 C T SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.1907 p.R636H 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 79 0 0 63 46 42.2018 RBM19 0 genome.wustl.edu 37 12 114383685 114383685 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 114383685 114383685 G A SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.1574 p.A525V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 33 0 0 19 9 32.1429 NOS1 0 genome.wustl.edu 37 12 117728108 117728108 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 117728108 117728108 T C SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.976 p.T326A 1.000 superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 41 0 0 11 11 50 ETV6 0 genome.wustl.edu 37 12 11905513 11905513 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 11905513 11905513 C T SNP ETV6 ENST00000396373 human ensembl 74_37 +1 known missense c.163 p.R55C 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV6 HGNC ENSG00000139083 52 0 0 52 25 32.4675 GCN1L1 0 genome.wustl.edu 37 12 120575043 120575043 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 120575043 120575043 G A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known silent c.6744 p.G2248 0.999 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 76 0 0 75 41 35.3448 EP400 0 genome.wustl.edu 37 12 132504737 132504737 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 132504737 132504737 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.4529 p.T1510M 0.999 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 69 0 0 56 35 38.4615 DDX51 0 genome.wustl.edu 37 12 132624721 132624721 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 132624721 132624721 G A SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known missense c.1697 p.A566V 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX51 HGNC ENSG00000185163 65 0 0 45 28 38.3562 P2RX2 0 genome.wustl.edu 37 12 133197075 133197075 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 133197075 133197075 C T SNP P2RX2 ENST00000343948 human ensembl 74_37 +1 known missense c.680 p.T227M 0.067 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 50 0 0 59 32 35.1648 KDM5A 0 genome.wustl.edu 37 12 427454 427454 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 427454 427454 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known silent c.2715 p.D905 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 133 0 0 72 43 37.3913 ANO6 0 genome.wustl.edu 37 12 45740868 45740868 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 45740868 45740868 T C SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.343 p.S115P 1.000 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 56 0 0 26 20 43.4783 FKBP11 0 genome.wustl.edu 37 12 49317602 49317602 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 49317602 49317602 C A SNP FKBP11 ENST00000550765 human ensembl 74_37 -1 known missense c.351 p.L117F 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP11 HGNC ENSG00000134285 83 0 0 37 27 42.1875 ESPL1 0 genome.wustl.edu 37 12 53685483 53685483 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 53685483 53685483 A G SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.5530 p.S1844G 0.983 pfam_Peptidase_C50 pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 190 1 0.52356 153 113 42.4812 PCBP2 0 genome.wustl.edu 37 12 53861054 53861054 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 53861054 53861054 C T SNP PCBP2 ENST00000603815 human ensembl 74_37 +1 known missense c.776 p.T259M 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP2 HGNC ENSG00000197111 89 0 0 35 27 43.5484 ERBB3 0 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.310 p.V104M 0.994 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 110 0 0 104 19 15.4472 ESYT1 0 genome.wustl.edu 37 12 56526318 56526318 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 56526318 56526318 C A SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known silent c.1098 p.T366 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 73 0 0 31 16 34.0426 MARS 0 genome.wustl.edu 37 12 57909883 57909883 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 57909883 57909883 G A SNP MARS ENST00000315473 human ensembl 74_37 +1 known missense c.1870 p.A624T 0.008 NULL pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 21 0 0 14 8 36.3636 XPOT 0 genome.wustl.edu 37 12 64812808 64812808 + Silent SNP C C G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 64812808 64812808 C G SNP XPOT ENST00000332707 human ensembl 74_37 +1 known silent c.423 p.L141 0.776 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 101 0 0 63 5 7.35294 RPSAP52 0 genome.wustl.edu 37 12 66152139 66152139 + RNA SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 66152139 66152139 C A SNP RPSAP52 ENST00000489520 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPSAP52 HGNC ENSG00000241749 16 0 0 6 9 60 NCAPD2 0 genome.wustl.edu 37 12 6639960 6639960 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 6639960 6639960 C A SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.3941 p.P1314Q 0.052 pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 91 0 0 58 43 42.5743 BEST3 0 genome.wustl.edu 37 12 70070963 70070963 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 70070963 70070963 G A SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known silent c.711 p.T237 0.052 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 16 0 0 12 9 42.8571 CAPS2 0 genome.wustl.edu 37 12 75692669 75692669 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 75692669 75692669 C T SNP CAPS2 ENST00000409445 human ensembl 74_37 -1 known missense c.989 p.R330Q 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS2 HGNC ENSG00000180881 37 0 0 12 5 29.4118 SLC2A3 0 genome.wustl.edu 37 12 8077069 8077069 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 8077069 8077069 A G SNP SLC2A3 ENST00000075120 human ensembl 74_37 -1 known silent c.1005 p.H335 0.020 pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 60 0 0 27 12 30.7692 C3AR1 0 genome.wustl.edu 37 12 8212583 8212583 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 8212583 8212583 C T SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known missense c.199 p.A67T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 50 0 0 27 21 43.75 SLC9A7P1 0 genome.wustl.edu 37 12 98849119 98849119 + RNA SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 98849119 98849119 C T SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 0.765 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 23 0 0 8 3 27.2727 ANKS1B 0 genome.wustl.edu 37 12 99837450 99837450 + Splice_Site SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 99837450 99837450 C A SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known splice_site c.1575+1 e11+1 1.000 - - - no_errors ANKS1B HGNC ENSG00000185046 39 0 0 16 23 58.9744 ERCC5 0 genome.wustl.edu 37 13 103514608 103514608 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 103514608 103514608 G A SNP ERCC5 ENST00000355739 human ensembl 74_37 +1 known missense c.1109 p.R370H 0.000 tigrfam_XPG/Rad2_eukaryotes pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes - no_errors ERCC5 HGNC ENSG00000134899 65 0 0 34 25 42.3729 MYO16 0 genome.wustl.edu 37 13 109779875 109779875 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 109779875 109779875 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.3962 p.A1321V 0.619 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 20 0 0 22 10 31.25 ING1 0 genome.wustl.edu 37 13 111371946 111371946 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 111371946 111371946 C T SNP ING1 ENST00000375774 human ensembl 74_37 +1 known silent c.936 p.D312 0.220 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 37 0 0 25 13 34.2105 TFDP1 0 genome.wustl.edu 37 13 114292126 114292126 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 114292126 114292126 T G SNP TFDP1 ENST00000544902 human ensembl 74_37 +1 known missense c.913 p.F305V 0.155 pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP1 HGNC ENSG00000198176 85 0 0 38 38 50 GRK1 0 genome.wustl.edu 37 13 114324053 114324053 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 114324053 114324053 G A SNP GRK1 ENST00000335678 human ensembl 74_37 +1 known missense c.751 p.V251M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK1 HGNC ENSG00000185974 170 0 0 93 60 39.2157 TMEM255B 0 genome.wustl.edu 37 13 114507955 114507955 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 114507955 114507955 C T SNP TMEM255B ENST00000375353 human ensembl 74_37 +1 known missense c.767 p.T256M 0.002 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 34 0 0 40 25 38.4615 GJB6 0 genome.wustl.edu 37 13 20797605 20797605 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 20797605 20797605 C T SNP GJB6 ENST00000241124 human ensembl 74_37 -1 known silent c.15 p.T5 0.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC ENSG00000121742 99 0 0 75 46 38.0165 CRYL1 0 genome.wustl.edu 37 13 21006292 21006292 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 21006292 21006292 A G SNP CRYL1 ENST00000298248 human ensembl 74_37 -1 known silent c.582 p.V194 0.009 pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC ENSG00000165475 69 0 0 47 20 29.8507 XPO4 0 genome.wustl.edu 37 13 21396279 21396279 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 21396279 21396279 A G SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known silent c.990 p.T330 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 49 0 0 34 20 37.037 SACS 0 genome.wustl.edu 37 13 23905616 23905616 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 23905616 23905616 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.12399 p.G4133 0.973 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 93 0 0 51 30 37.037 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36776016 36776016 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 36776016 36776016 C T SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.494 p.R165K 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 53 0 0 16 19 54.2857 RCBTB2 0 genome.wustl.edu 37 13 49076918 49076918 + Nonstop_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 49076918 49076918 A G SNP RCBTB2 ENST00000544904 human ensembl 74_37 -1 known nonstop c.844 p.*282R 0.004 NULL pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 61 0 0 67 38 36.1905 TBC1D4 0 genome.wustl.edu 37 13 75936261 75936261 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 75936261 75936261 G A SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known silent c.981 p.H327 0.126 smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 57 0 0 59 44 42.7184 MYCBP2 0 genome.wustl.edu 37 13 77755927 77755927 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 77755927 77755927 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.4850 p.R1617Q 0.994 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 79 0 0 52 22 29.7297 SLITRK5 0 genome.wustl.edu 37 13 88329003 88329003 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 88329003 88329003 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1360 p.G454R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 50 0 0 33 13 28.2609 UGGT2 0 genome.wustl.edu 37 13 96513099 96513099 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 96513099 96513099 T C SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known missense c.3683 p.K1228R 0.483 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 33 0 0 15 9 37.5 RNF113B 0 genome.wustl.edu 37 13 98829237 98829237 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 98829237 98829237 G A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known missense c.254 p.A85V 0.061 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 44 0 0 23 19 45.2381 SNORD114-22 0 genome.wustl.edu 37 14 101449281 101449281 + RNA SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 101449281 101449281 C T SNP SNORD114-22 ENST00000365423 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD114-22 HGNC ENSG00000202293 98 0 0 35 46 56.7901 TNFAIP2 0 genome.wustl.edu 37 14 103598068 103598068 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 103598068 103598068 C T SNP TNFAIP2 ENST00000333007 human ensembl 74_37 +1 known missense c.1391 p.T464I 0.893 pfam_Sec6 pfam_Sec6 - no_errors TNFAIP2 HGNC ENSG00000185215 21 0 0 30 13 30.2326 AHNAK2 0 genome.wustl.edu 37 14 105411993 105411993 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 105411993 105411993 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.9795 p.P3265 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 194 0 0 150 118 44.0299 POTEM 0 genome.wustl.edu 37 14 20002286 20002286 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 20002286 20002286 A G SNP POTEM ENST00000547848 human ensembl 74_37 -1 known missense c.1136 p.L379S 0.021 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 29 0 0 9 4 30.7692 ARHGEF40 0 genome.wustl.edu 37 14 21543173 21543173 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 21543173 21543173 C T SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known silent c.1284 p.C428 0.002 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 58 0 0 51 39 43.3333 PABPN1 0 genome.wustl.edu 37 14 23793419 23793419 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 23793419 23793419 G A SNP PABPN1 ENST00000216727 human ensembl 74_37 +1 known missense c.802 p.A268T 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PABPN1 HGNC ENSG00000100836 75 0 0 62 42 40.3846 CPNE6 0 genome.wustl.edu 37 14 24546187 24546187 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 24546187 24546187 C T SNP CPNE6 ENST00000537691 human ensembl 74_37 +1 known missense c.1430 p.P477L 0.003 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 32 0 0 19 12 38.7097 EMC9 0 genome.wustl.edu 37 14 24610340 24610340 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 24610340 24610340 G A SNP EMC9 ENST00000216799 human ensembl 74_37 -1 known silent c.174 p.V58 1.000 pfam_UPF0172 pfam_UPF0172 - no_errors EMC9 HGNC ENSG00000100908 66 0 0 82 40 32.7869 SDR39U1 0 genome.wustl.edu 37 14 24909989 24909989 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 24909989 24909989 C A SNP SDR39U1 ENST00000399395 human ensembl 74_37 -1 known missense c.472 p.G158W 0.981 pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put - no_errors SDR39U1 HGNC ENSG00000100445 44 0 0 47 22 31.8841 CTSG 0 genome.wustl.edu 37 14 25042923 25042923 + Silent SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 25042923 25042923 T G SNP CTSG ENST00000216336 human ensembl 74_37 -1 known silent c.688 p.R230 0.630 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CTSG HGNC ENSG00000100448 169 0 0 115 84 42.2111 HECTD1 0 genome.wustl.edu 37 14 31592235 31592235 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 31592235 31592235 C T SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.5000 p.R1667H 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 72 0 0 41 30 42.2535 NKX2-8 0 genome.wustl.edu 37 14 37051560 37051560 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 37051560 37051560 C T SNP NKX2-8 ENST00000258829 human ensembl 74_37 -1 known missense c.35 p.R12H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-8 HGNC ENSG00000136327 15 0 0 18 10 35.7143 FSCB 0 genome.wustl.edu 37 14 44974339 44974339 + Missense_Mutation SNP C C G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 44974339 44974339 C G SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1852 p.A618P 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 30 0 0 19 20 51.2821 RPL13AP3 0 genome.wustl.edu 37 14 56233000 56233000 + RNA SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 56233000 56233000 G A SNP RPL13AP3 ENST00000494676 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPL13AP3 HGNC ENSG00000177350 10 0 0 13 12 48 GPR135 0 genome.wustl.edu 37 14 59930838 59930838 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 59930838 59930838 G A SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known silent c.1107 p.S369 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 21 0 0 28 17 37.7778 GPR135 0 genome.wustl.edu 37 14 59930957 59930957 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 59930957 59930957 C T SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known missense c.988 p.A330T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 32 0 0 27 22 44.898 RTN1 0 genome.wustl.edu 37 14 60074118 60074118 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 60074118 60074118 C T SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.1858 p.V620M 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 29 0 0 23 11 32.3529 SNAPC1 0 genome.wustl.edu 37 14 62234021 62234021 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 62234021 62234021 G A SNP SNAPC1 ENST00000216294 human ensembl 74_37 +1 known missense c.380 p.R127K 1.000 pfam_SNAPc_SNAP43 pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 54 0 0 26 22 45.8333 SYNE2 0 genome.wustl.edu 37 14 64518335 64518335 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 64518335 64518335 A G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.7704 p.E2568 0.999 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 40 0 0 16 11 40.7407 GPHN 0 genome.wustl.edu 37 14 66975270 66975270 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 66975270 66975270 A G SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.25 p.T9A 1.000 NULL pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 88 0 0 59 41 41 VRTN 0 genome.wustl.edu 37 14 74823869 74823869 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 74823869 74823869 T C SNP VRTN ENST00000256362 human ensembl 74_37 +1 known missense c.383 p.V128A 1.000 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 38 0 0 34 28 45.1613 RPS6KL1 0 genome.wustl.edu 37 14 75376342 75376342 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 75376342 75376342 A G SNP RPS6KL1 ENST00000358328 human ensembl 74_37 -1 known missense c.1174 p.W392R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KL1 HGNC ENSG00000198208 48 0 0 58 27 31.7647 NRXN3 0 genome.wustl.edu 37 14 80319911 80319911 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 80319911 80319911 C T SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.4099 p.R1367C 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 90 0 0 65 37 36.2745 EML5 0 genome.wustl.edu 37 14 89123848 89123848 + Splice_Site SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 89123848 89123848 T C SNP EML5 ENST00000554922 human ensembl 74_37 -1 known splice_site c.3878-2 e27-2 1.000 - - - no_errors EML5 HGNC ENSG00000165521 20 0 0 8 6 42.8571 FBLN5 0 genome.wustl.edu 37 14 92353624 92353624 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 92353624 92353624 C T SNP FBLN5 ENST00000342058 human ensembl 74_37 -1 known missense c.652 p.V218M 0.435 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors FBLN5 HGNC ENSG00000140092 128 0 0 69 42 37.8378 LINS 0 genome.wustl.edu 37 15 101110170 101110170 + Nonsense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 101110170 101110170 G T SNP LINS ENST00000314742 human ensembl 74_37 -1 known nonsense c.1547 p.S516* 1.000 NULL NULL - no_errors LINS HGNC ENSG00000140471 34 0 0 16 8 33.3333 SNORD116-20 0 genome.wustl.edu 37 15 25332953 25332953 + RNA SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 25332953 25332953 A C SNP SNORD116-20 ENST00000567527 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-20 HGNC ENSG00000261069 101 0 0 39 33 45.8333 SNHG14 0 genome.wustl.edu 37 15 25492322 25492322 + RNA SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 25492322 25492322 G T SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors SNHG14 HGNC ENSG00000224078 27 0 0 18 13 41.9355 ATP10A 0 genome.wustl.edu 37 15 26107859 26107859 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 26107859 26107859 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.385 p.E129K 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP10A HGNC ENSG00000206190 22 0 0 22 10 31.25 HERC2 0 genome.wustl.edu 37 15 28493822 28493822 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 28493822 28493822 A G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.3111 p.C1037 0.993 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 41 0 0 19 14 42.4242 IVD 0 genome.wustl.edu 37 15 40707606 40707606 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 40707606 40707606 G A SNP IVD ENST00000487418 human ensembl 74_37 +1 known missense c.894 p.M298I 1.000 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors IVD HGNC ENSG00000128928 26 0 0 29 2 6.45161 ZNF106 0 genome.wustl.edu 37 15 42717190 42717190 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 42717190 42717190 C A SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.4963 p.G1655C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 39 0 0 38 17 30.9091 CDAN1 0 genome.wustl.edu 37 15 43022830 43022830 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 43022830 43022830 G A SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known missense c.2140 p.R714W 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 24 0 0 24 7 22.5806 PDIA3 0 genome.wustl.edu 37 15 44063406 44063406 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 44063406 44063406 A G SNP PDIA3 ENST00000300289 human ensembl 74_37 +1 known missense c.1508 p.E503G 0.985 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA3 HGNC ENSG00000167004 36 0 0 11 4 26.6667 DUOX1 0 genome.wustl.edu 37 15 45431269 45431269 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 45431269 45431269 A G SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known silent c.1119 p.P373 0.944 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 35 0 0 15 14 48.2759 SEMA6D 0 genome.wustl.edu 37 15 48056471 48056471 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 48056471 48056471 G A SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.1066 p.A356T 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 75 0 0 30 28 48.2759 FBN1 0 genome.wustl.edu 37 15 48762843 48762843 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 48762843 48762843 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.4447 p.G1483R 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 42 0 0 44 35 44.3038 EID1 0 genome.wustl.edu 37 15 49170700 49170700 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 49170700 49170700 C T SNP EID1 ENST00000530028 human ensembl 74_37 +1 known silent c.327 p.Y109 0.991 NULL NULL - no_errors EID1 HGNC ENSG00000255302 23 0 0 20 13 39.3939 AP4E1 0 genome.wustl.edu 37 15 51260544 51260544 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 51260544 51260544 C T SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known missense c.1936 p.R646C 1.000 superfamily_ARM-type_fold,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 18 0 0 10 6 37.5 DMXL2 0 genome.wustl.edu 37 15 51792058 51792058 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 51792058 51792058 T C SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known silent c.3363 p.Q1121 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 49 0 0 27 18 40 WDR72 0 genome.wustl.edu 37 15 54005019 54005019 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 54005019 54005019 A G SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.661 p.C221R 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 23 0 0 16 12 42.8571 RAB27A 0 genome.wustl.edu 37 15 55497750 55497750 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 55497750 55497750 C T SNP RAB27A ENST00000336787 human ensembl 74_37 -1 known silent c.621 p.T207 0.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB27A HGNC ENSG00000069974 141 0 0 68 44 39.2857 ANXA2 0 genome.wustl.edu 37 15 60674549 60674549 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 60674549 60674549 T G SNP ANXA2 ENST00000332680 human ensembl 74_37 -1 known missense c.194 p.K65T 1.000 pfam_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinII,prints_AnnexinV - no_errors ANXA2 HGNC ENSG00000182718 35 0 0 19 10 34.4828 DPP8 0 genome.wustl.edu 37 15 65771345 65771345 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 65771345 65771345 A G SNP DPP8 ENST00000341861 human ensembl 74_37 -1 known silent c.1377 p.S459 0.998 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 38 0 0 16 14 46.6667 PML 0 genome.wustl.edu 37 15 74336586 74336586 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 74336586 74336586 C T SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.1886 p.A629V 0.361 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 80 0 0 61 35 36.4583 SIN3A 0 genome.wustl.edu 37 15 75687179 75687179 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 75687179 75687179 G A SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known nonsense c.2119 p.R707* 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 100 0 0 55 38 40.8602 ZNF592 0 genome.wustl.edu 37 15 85341639 85341639 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 85341639 85341639 C T SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known silent c.2670 p.G890 0.401 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 84 0 0 31 26 45.614 ACAN 0 genome.wustl.edu 37 15 89398171 89398171 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 89398171 89398171 G T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.2355 p.E785D 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 10 0 0 4 4 50 CHD2 0 genome.wustl.edu 37 15 93528850 93528850 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 93528850 93528850 G A SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative silent c.3360 p.P1120 0.579 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 99 0 0 58 29 33.3333 MCTP2 0 genome.wustl.edu 37 15 94983445 94983445 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 94983445 94983445 T C SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known missense c.2126 p.I709T 1.000 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 206 0 0 72 63 46.6667 KIAA0430 0 genome.wustl.edu 37 16 15703435 15703435 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 15703435 15703435 T C SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.3899 p.Y1300C 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 53 0 0 20 16 44.4444 ENSG00000263065 0 genome.wustl.edu 37 16 15835278 15835278 + RNA SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 15835278 15835278 G T SNP ENSG00000263065 ENST00000577048 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AF001548.6 Clone_based_vega_gene ENSG00000263065 92 0 0 57 45 44.1176 NME3 0 genome.wustl.edu 37 16 1820969 1820969 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 1820969 1820969 C T SNP NME3 ENST00000219302 human ensembl 74_37 -1 known missense c.305 p.R102H 0.001 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME3 HGNC ENSG00000103024 22 0 0 25 18 41.8605 SMG1 0 genome.wustl.edu 37 16 18846365 18846365 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 18846365 18846365 G A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.8179 p.R2727C 1.000 superfamily_ARM-type_fold 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 SMG1 HGNC ENSG00000157106 164 0 0 98 70 41.6667 GDE1 0 genome.wustl.edu 37 16 19514884 19514884 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 19514884 19514884 T C SNP GDE1 ENST00000353258 human ensembl 74_37 -1 known missense c.904 p.N302D 0.998 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDE1 HGNC ENSG00000006007 80 0 0 29 24 45.283 HS3ST6 0 genome.wustl.edu 37 16 1961987 1961987 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 1961987 1961987 G A SNP HS3ST6 ENST00000293937 human ensembl 74_37 -1 known silent c.633 p.H211 0.966 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST6 HGNC ENSG00000162040 28 0 0 24 17 41.4634 GPRC5B 0 genome.wustl.edu 37 16 19883731 19883731 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 19883731 19883731 C T SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.515 p.R172H 0.999 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 42 0 0 32 27 45.7627 SNORA64 0 genome.wustl.edu 37 16 2013028 2013028 + RNA SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 2013028 2013028 T C SNP SNORA64 ENST00000384674 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORA64 HGNC ENSG00000207405 54 0 0 29 24 45.283 DNAH3 0 genome.wustl.edu 37 16 20976175 20976175 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 20976175 20976175 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.9031 p.A3011T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 66 0 0 25 18 41.8605 POLR3E 0 genome.wustl.edu 37 16 22320299 22320299 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 22320299 22320299 A G SNP POLR3E ENST00000564750 human ensembl 74_37 +1 known missense c.169 p.R57G 1.000 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 54 0 0 78 13 14.2857 MLST8 0 genome.wustl.edu 37 16 2258654 2258654 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 2258654 2258654 C T SNP MLST8 ENST00000301724 human ensembl 74_37 +1 putative missense c.902 p.A301V 0.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MLST8 HGNC ENSG00000167965 80 0 0 69 41 37.2727 CCNF 0 genome.wustl.edu 37 16 2481176 2481176 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 2481176 2481176 G A SNP CCNF ENST00000397066 human ensembl 74_37 +1 known missense c.62 p.R21Q 1.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 105 0 0 45 31 40.7895 CCNF 0 genome.wustl.edu 37 16 2489443 2489443 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 2489443 2489443 C T SNP CCNF ENST00000397066 human ensembl 74_37 +1 known silent c.684 p.S228 0.166 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 14 0 0 10 5 33.3333 XPO6 0 genome.wustl.edu 37 16 28112798 28112798 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 28112798 28112798 C T SNP XPO6 ENST00000304658 human ensembl 74_37 -1 known missense c.3257 p.R1086Q 1.000 NULL pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 37 0 0 29 20 40.8163 C16orf92 0 genome.wustl.edu 37 16 30035069 30035069 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 30035069 30035069 C T SNP C16orf92 ENST00000300575 human ensembl 74_37 +1 known missense c.152 p.T51M 0.000 NULL NULL - no_errors C16orf92 HGNC ENSG00000167194 29 0 0 21 15 41.6667 PHKG2 0 genome.wustl.edu 37 16 30768156 30768156 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 30768156 30768156 G A SNP PHKG2 ENST00000563588 human ensembl 74_37 +1 known missense c.959 p.R320Q 1.000 superfamily_Kinase-like_dom,prints_Phosph_kin_gamma pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 133 0 0 90 53 37.0629 MMP25 0 genome.wustl.edu 37 16 3100297 3100297 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 3100297 3100297 C T SNP MMP25 ENST00000336577 human ensembl 74_37 +1 known silent c.411 p.T137 0.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo 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 MMP25 HGNC ENSG00000008516 70 0 0 42 31 42.4658 IL32 0 genome.wustl.edu 37 16 3119141 3119141 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 3119141 3119141 C T SNP IL32 ENST00000396890 human ensembl 74_37 +1 known missense c.490 p.R164W 0.000 NULL NULL - no_errors IL32 HGNC ENSG00000008517 40 0 0 23 11 32.3529 ITGAD 0 genome.wustl.edu 37 16 31426253 31426253 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 31426253 31426253 T C SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.2224 p.S742P 0.002 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 85 0 0 54 22 28.9474 NLRC3 0 genome.wustl.edu 37 16 3613679 3613679 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 3613679 3613679 A C SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.1400 p.M467R 1.000 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 31 0 0 23 13 36.1111 SLX4 0 genome.wustl.edu 37 16 3641292 3641292 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 3641292 3641292 C T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.2347 p.V783I 0.001 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 83 0 0 53 6 10.1695 MYLK3 0 genome.wustl.edu 37 16 46763518 46763518 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 46763518 46763518 G A SNP MYLK3 ENST00000394809 human ensembl 74_37 -1 known silent c.1650 p.S550 0.081 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_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 MYLK3 HGNC ENSG00000140795 55 0 0 40 20 33.3333 RPGRIP1L 0 genome.wustl.edu 37 16 53692344 53692344 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 53692344 53692344 T G SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known missense c.1383 p.E461D 1.000 NULL pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 38 0 0 18 3 14.2857 CDH16 0 genome.wustl.edu 37 16 66946430 66946430 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 66946430 66946430 C T SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known missense c.1336 p.A446T 0.980 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 63 0 0 31 23 42.5926 ELMO3 0 genome.wustl.edu 37 16 67234150 67234150 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 67234150 67234150 G A SNP ELMO3 ENST00000393997 human ensembl 74_37 +1 known missense c.458 p.R153H 1.000 superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 30 0 0 20 11 35.4839 DUS2 0 genome.wustl.edu 37 16 68109393 68109393 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 68109393 68109393 T C SNP DUS2 ENST00000358896 human ensembl 74_37 +1 known silent c.1068 p.A356 0.995 NULL pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom - no_errors DUS2 HGNC ENSG00000167264 17 0 0 13 6 31.5789 PRMT7 0 genome.wustl.edu 37 16 68373281 68373281 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 68373281 68373281 C T SNP PRMT7 ENST00000339507 human ensembl 74_37 +1 known silent c.561 p.S187 0.439 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 75 0 0 67 35 34.3137 CHST4 0 genome.wustl.edu 37 16 71571181 71571181 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 71571181 71571181 G A SNP CHST4 ENST00000338482 human ensembl 74_37 +1 known missense c.601 p.V201M 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 51 0 0 36 36 50 RFWD3 0 genome.wustl.edu 37 16 74670377 74670377 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 74670377 74670377 C T SNP RFWD3 ENST00000361070 human ensembl 74_37 -1 known silent c.1293 p.Q431 1.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC ENSG00000168411 54 0 0 47 26 35.6164 RBFOX1 0 genome.wustl.edu 37 16 7680608 7680608 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 7680608 7680608 C T SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.809 p.T270M 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 33 0 0 29 9 23.6842 ADAMTS18 0 genome.wustl.edu 37 16 77353960 77353960 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 77353960 77353960 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.2318 p.G773D 1.000 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 59 0 0 33 19 36.5385 TLDC1 0 genome.wustl.edu 37 16 84522882 84522882 + Splice_Site SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 84522882 84522882 G A SNP TLDC1 ENST00000343629 human ensembl 74_37 -1 known splice_site c.529+2 e3+2 1.000 - - - no_errors TLDC1 HGNC ENSG00000140950 42 0 0 30 18 37.5 TLDC1 0 genome.wustl.edu 37 16 84531619 84531619 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 84531619 84531619 T C SNP TLDC1 ENST00000343629 human ensembl 74_37 -1 known missense c.74 p.D25G 0.046 NULL pfam_TLDc,smart_TLDc - no_errors TLDC1 HGNC ENSG00000140950 173 0 0 85 70 45.1613 MTHFSD 0 genome.wustl.edu 37 16 86565765 86565765 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 86565765 86565765 C T SNP MTHFSD ENST00000360900 human ensembl 74_37 -1 known missense c.1004 p.R335Q 0.889 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MTHFSD HGNC ENSG00000103248 13 0 0 12 12 50 CBFA2T3 0 genome.wustl.edu 37 16 88958765 88958765 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 88958765 88958765 C T SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known missense c.508 p.G170R 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 38 0 0 22 14 38.8889 MYH2 0 genome.wustl.edu 37 17 10428368 10428368 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 10428368 10428368 A G SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.4677 p.H1559 0.800 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 106 0 0 42 37 46.8354 MYO1C 0 genome.wustl.edu 37 17 1381382 1381382 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 1381382 1381382 G A SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known missense c.1400 p.A467V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 86 0 0 116 11 8.66142 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 65 0 0 51 20 28.169 ZSWIM7 0 genome.wustl.edu 37 17 15890645 15890645 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 15890645 15890645 A G SNP ZSWIM7 ENST00000399277 human ensembl 74_37 -1 known silent c.136 p.L46 1.000 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM7 HGNC ENSG00000214941 33 0 0 15 2 11.7647 RAI1 0 genome.wustl.edu 37 17 17698048 17698048 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 17698048 17698048 C T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.1786 p.R596W 0.816 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 100 0 0 82 46 35.9375 MYO15A 0 genome.wustl.edu 37 17 18022386 18022386 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 18022386 18022386 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.272 p.R91H 0.936 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 18 0 0 17 11 39.2857 MYO15A 0 genome.wustl.edu 37 17 18054840 18054840 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 18054840 18054840 A G SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.7786 p.R2596G 0.999 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 55 0 0 52 27 34.1772 MIEF2 0 genome.wustl.edu 37 17 18167652 18167652 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 18167652 18167652 C T SNP MIEF2 ENST00000323019 human ensembl 74_37 +1 known silent c.939 p.D313 0.000 NULL NULL - no_errors MIEF2 HGNC ENSG00000177427 72 0 0 75 45 37.5 MAP2K3 0 genome.wustl.edu 37 17 21203893 21203893 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 21203893 21203893 T C SNP MAP2K3 ENST00000342679 human ensembl 74_37 +1 known missense c.202 p.S68P 0.060 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_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 MAP2K3 HGNC ENSG00000034152 11 0 0 13 5 27.7778 KSR1 0 genome.wustl.edu 37 17 25909964 25909964 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 25909964 25909964 G A SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known silent c.813 p.P271 0.261 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 13 0 0 16 11 40.7407 ERAL1 0 genome.wustl.edu 37 17 27182060 27182060 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 27182060 27182060 C T SNP ERAL1 ENST00000254928 human ensembl 74_37 +1 known missense c.8 p.A3V 0.975 NULL pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors ERAL1 HGNC ENSG00000132591 37 0 0 40 35 46.6667 ACACA 0 genome.wustl.edu 37 17 35641758 35641758 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 35641758 35641758 C T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.452 p.G151E 1.000 superfamily_PreATP-grasp_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 91 0 0 38 36 48.6486 WIPF2 0 genome.wustl.edu 37 17 38412743 38412743 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 38412743 38412743 C T SNP WIPF2 ENST00000323571 human ensembl 74_37 +1 known missense c.32 p.P11L 1.000 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF2 HGNC ENSG00000171475 64 0 0 42 34 44.7368 FKBP10 0 genome.wustl.edu 37 17 39977935 39977935 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 39977935 39977935 C T SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known silent c.1429 p.L477 0.327 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 61 0 0 59 28 32.1839 ANKFY1 0 genome.wustl.edu 37 17 4075887 4075887 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 4075887 4075887 A G SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.3229 p.Y1077H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 79 0 0 40 35 46.6667 NBR1 0 genome.wustl.edu 37 17 41345516 41345516 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 41345516 41345516 C T SNP NBR1 ENST00000341165 human ensembl 74_37 +1 known missense c.1385 p.S462F 1.000 NULL pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors NBR1 HGNC ENSG00000188554 24 0 0 13 13 50 ATXN7L3 0 genome.wustl.edu 37 17 42274991 42274991 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 42274991 42274991 C T SNP ATXN7L3 ENST00000454077 human ensembl 74_37 -1 known silent c.159 p.T53 0.998 NULL pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC ENSG00000087152 145 0 0 97 61 38.6076 TBX21 0 genome.wustl.edu 37 17 45822626 45822626 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 45822626 45822626 G A SNP TBX21 ENST00000177694 human ensembl 74_37 +1 known missense c.1502 p.R501H 0.996 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 TBX21 HGNC ENSG00000073861 39 0 0 31 16 34.0426 LOC100288866 0 genome.wustl.edu 37 17 47583530 47583530 + RNA SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 47583530 47583530 T C SNP LOC100288866 ENST00000514506 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-1029K10.2 Clone_based_vega_gene ENSG00000249906 10 0 0 12 5 29.4118 SGCA 0 genome.wustl.edu 37 17 48246578 48246578 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 48246578 48246578 C T SNP SGCA ENST00000262018 human ensembl 74_37 +1 known missense c.710 p.A237V 0.884 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCA HGNC ENSG00000108823 41 0 0 40 17 29.8246 PCTP 0 genome.wustl.edu 37 17 53851055 53851055 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 53851055 53851055 G A SNP PCTP ENST00000417982 human ensembl 74_37 +1 known missense c.178 p.V60I 0.000 NULL pfam_START_lipid-bd_dom - no_errors PCTP HGNC ENSG00000141179 17 0 0 22 9 29.0323 NLRP1 0 genome.wustl.edu 37 17 5462048 5462048 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 5462048 5462048 C T SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known silent c.1968 p.T656 0.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 141 0 0 66 39 37.1429 DYNLL2 0 genome.wustl.edu 37 17 56166533 56166533 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 56166533 56166533 C T SNP DYNLL2 ENST00000579991 human ensembl 74_37 +1 known missense c.163 p.H55Y 1.000 pfam_Dynein_light_chain_typ-1/2 pfam_Dynein_light_chain_typ-1/2 - no_errors DYNLL2 HGNC ENSG00000264364 89 0 0 63 34 35.0515 MAP3K3 0 genome.wustl.edu 37 17 61769160 61769160 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 61769160 61769160 G A SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known missense c.1505 p.R502Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K3 HGNC ENSG00000198909 146 0 0 123 70 36.2694 SCN4A 0 genome.wustl.edu 37 17 62019107 62019107 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 62019107 62019107 C T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.4535 p.G1512D 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 72 0 0 44 28 38.8889 SCN4A 0 genome.wustl.edu 37 17 62038590 62038590 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 62038590 62038590 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.1808 p.T603M 0.982 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 78 0 0 37 22 37.2881 RGS9 0 genome.wustl.edu 37 17 63221121 63221121 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 63221121 63221121 C T SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known missense c.1409 p.P470L 0.766 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 125 0 0 116 65 35.9116 CACNG1 0 genome.wustl.edu 37 17 65052208 65052208 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 65052208 65052208 C T SNP CACNG1 ENST00000226021 human ensembl 74_37 +1 known missense c.490 p.R164C 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su,prints_VDCC_gsu - no_errors CACNG1 HGNC ENSG00000108878 60 0 0 56 27 32.5301 ITGB4 0 genome.wustl.edu 37 17 73728294 73728294 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 73728294 73728294 C T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known silent c.1428 p.C476 0.984 pirsf_Integrin_bsu-4,pfam_EGF_extracell pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 57 0 0 38 20 34.4828 ITGB4 0 genome.wustl.edu 37 17 73753610 73753610 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 73753610 73753610 A G SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.5443 p.M1815V 0.870 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 73 0 0 67 34 33.6634 EXOC7 0 genome.wustl.edu 37 17 74087253 74087253 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 74087253 74087253 T C SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known missense c.872 p.K291R 1.000 superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 145 0 0 99 47 32.1918 JMJD6 0 genome.wustl.edu 37 17 74714828 74714828 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 74714828 74714828 G A SNP JMJD6 ENST00000445478 human ensembl 74_37 -1 known missense c.1195 p.R399C 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 60 0 0 47 28 37.3333 CBX8 0 genome.wustl.edu 37 17 77769309 77769309 + Missense_Mutation SNP C C G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 77769309 77769309 C G SNP CBX8 ENST00000269385 human ensembl 74_37 -1 known missense c.295 p.A99P 0.291 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 13 0 0 11 8 42.1053 CCDC40 0 genome.wustl.edu 37 17 78039288 78039288 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 78039288 78039288 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.1445 p.C482Y 0.776 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 70 0 0 72 47 39.4958 CARD14 0 genome.wustl.edu 37 17 78182049 78182049 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 78182049 78182049 G T SNP CARD14 ENST00000344227 human ensembl 74_37 +1 known missense c.2920 p.G974C 0.701 superfamily_P-loop_NTPase,pfscan_Guanylate_kin-like pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 9 0 0 11 3 21.4286 SLC26A11 0 genome.wustl.edu 37 17 78210671 78210671 + RNA SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 78210671 78210671 G A SNP SLC26A11 ENST00000571564 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC26A11 HGNC ENSG00000181045 96 0 0 108 87 44.6154 RPTOR 0 genome.wustl.edu 37 17 78938200 78938200 + RNA SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 78938200 78938200 C T SNP RPTOR ENST00000575542 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RPTOR HGNC ENSG00000141564 20 0 0 18 20 52.6316 AZI1 0 genome.wustl.edu 37 17 79173252 79173252 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 79173252 79173252 C T SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.1121 p.R374Q 0.000 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 13 0 0 8 6 42.8571 ENSG00000262115 0 genome.wustl.edu 37 17 79173661 79173661 + RNA SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 79173661 79173661 G A SNP ENSG00000262115 ENST00000571085 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-455O6.2 Clone_based_vega_gene ENSG00000262115 94 0 0 79 54 40.6015 C17orf70 0 genome.wustl.edu 37 17 79511074 79511074 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 79511074 79511074 C T SNP C17orf70 ENST00000327787 human ensembl 74_37 -1 known missense c.2383 p.A795T 0.998 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 37 0 0 39 30 43.4783 PYCR1 0 genome.wustl.edu 37 17 79893246 79893246 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 79893246 79893246 G A SNP PYCR1 ENST00000329875 human ensembl 74_37 -1 known silent c.285 p.C95 0.987 pfam_G3P_DH_NAD-dep_N,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR1 HGNC ENSG00000183010 25 0 0 27 16 37.2093 FASN 0 genome.wustl.edu 37 17 80048771 80048771 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 80048771 80048771 A G SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.1667 p.L556P 0.999 pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 11 0 0 8 3 27.2727 RCVRN 0 genome.wustl.edu 37 17 9804342 9804342 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 9804342 9804342 C T SNP RCVRN ENST00000226193 human ensembl 74_37 -1 known missense c.457 p.E153K 0.997 smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors RCVRN HGNC ENSG00000109047 61 0 0 33 11 25 DSC3 0 genome.wustl.edu 37 18 28586948 28586948 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 28586948 28586948 C T SNP DSC3 ENST00000360428 human ensembl 74_37 -1 known missense c.1813 p.G605R 0.085 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC3 HGNC ENSG00000134762 43 0 0 24 18 42.8571 SLC25A52 0 genome.wustl.edu 37 18 29340010 29340010 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 29340010 29340010 C T SNP SLC25A52 ENST00000269205 human ensembl 74_37 -1 known silent c.645 p.T215 0.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A52 HGNC ENSG00000141437 92 0 0 39 28 41.791 RNF138 0 genome.wustl.edu 37 18 29693753 29693753 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 29693753 29693753 T C SNP RNF138 ENST00000261593 human ensembl 74_37 +1 known missense c.322 p.Y108H 1.000 NULL pfam_Znf_MIZ,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF138 HGNC ENSG00000134758 35 0 0 9 17 65.3846 ASXL3 0 genome.wustl.edu 37 18 31319791 31319791 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 31319791 31319791 C T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.2423 p.P808L 0.141 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 42 0 0 20 20 50 TCEB3B 0 genome.wustl.edu 37 18 44560469 44560469 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 44560469 44560469 G A SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known silent c.1167 p.Y389 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 72 0 0 46 25 35.2113 MYO5B 0 genome.wustl.edu 37 18 47383217 47383217 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 47383217 47383217 C T SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.3988 p.G1330S 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 51 0 0 21 15 41.6667 CDH7 0 genome.wustl.edu 37 18 63530035 63530035 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 63530035 63530035 G A SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.1746 p.V582 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 39 0 0 29 16 35.5556 ZNF407 0 genome.wustl.edu 37 18 72343856 72343856 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 72343856 72343856 G A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.881 p.R294H 0.006 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 80 0 0 37 31 45.5882 NFATC1 0 genome.wustl.edu 37 18 77208862 77208862 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 77208862 77208862 C T SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known silent c.1467 p.H489 0.994 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 58 0 0 37 39 51.3158 ANKRD12 0 genome.wustl.edu 37 18 9280973 9280973 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 9280973 9280973 C T SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.6038 p.A2013V 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 75 0 0 43 28 39.4366 S1PR5 0 genome.wustl.edu 37 19 10624718 10624718 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 10624718 10624718 C T SNP S1PR5 ENST00000333430 human ensembl 74_37 -1 known missense c.970 p.G324R 0.002 prints_EDG8_S1P_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 28 0 0 28 24 46.1538 PRKCSH 0 genome.wustl.edu 37 19 11558289 11558289 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 11558289 11558289 T C SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known silent c.885 p.P295 0.004 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 18 0 0 16 16 50 ZNF709 0 genome.wustl.edu 37 19 12576151 12576151 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 12576151 12576151 A G SNP ZNF709 ENST00000397732 human ensembl 74_37 -1 known silent c.585 p.P195 0.021 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF709 HGNC ENSG00000242852 79 0 0 38 34 47.2222 RNASEH2A 0 genome.wustl.edu 37 19 12918303 12918303 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 12918303 12918303 G A SNP RNASEH2A ENST00000221486 human ensembl 74_37 +1 known missense c.394 p.G132S 1.000 pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA - no_errors RNASEH2A HGNC ENSG00000104889 65 0 0 31 21 40.3846 LPHN1 0 genome.wustl.edu 37 19 14281586 14281586 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 14281586 14281586 T C SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.302 p.Q101R 1.000 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom,prints_GPCR_2_latrophilin pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 20 0 0 13 11 45.8333 MEX3D 0 genome.wustl.edu 37 19 1556717 1556717 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 1556717 1556717 C T SNP MEX3D ENST00000388824 human ensembl 74_37 -1 known silent c.801 p.P267 0.975 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 30 0 0 30 26 46.4286 MBD3 0 genome.wustl.edu 37 19 1581217 1581217 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 1581217 1581217 G A SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known missense c.551 p.A184V 1.000 NULL pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 27 0 0 44 4 8.33333 EPS15L1 0 genome.wustl.edu 37 19 16536014 16536014 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 16536014 16536014 G A SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known silent c.672 p.P224 0.002 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 45 0 0 78 6 7.14286 MAST3 0 genome.wustl.edu 37 19 18245776 18245776 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 18245776 18245776 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known silent c.1767 p.F589 0.990 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 66 0 0 63 47 42.7273 ELL 0 genome.wustl.edu 37 19 18557573 18557573 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 18557573 18557573 G A SNP ELL ENST00000262809 human ensembl 74_37 -1 known missense c.1517 p.T506M 0.750 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 22 0 0 13 6 31.5789 ATP13A1 0 genome.wustl.edu 37 19 19758333 19758333 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 19758333 19758333 C T SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.2798 p.R933H 1.000 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP13A1 HGNC ENSG00000105726 21 0 0 19 11 36.6667 ATP13A1 0 genome.wustl.edu 37 19 19766196 19766196 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 19766196 19766196 A G SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.1463 p.V488A 0.952 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP13A1 HGNC ENSG00000105726 37 0 0 41 22 34.9206 ZNF429 0 genome.wustl.edu 37 19 21720332 21720332 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 21720332 21720332 T C SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel missense c.1477 p.S493P 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 63 0 0 37 8 17.7778 ZNF730 0 genome.wustl.edu 37 19 23329345 23329345 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 23329345 23329345 C T SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.1499 p.T500I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ENSG00000183850 18 0 0 6 6 50 ZNF91 0 genome.wustl.edu 37 19 23557561 23557561 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 23557561 23557561 C T SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known silent c.36 p.L12 0.472 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 124 0 0 62 37 37.3737 ZNF675 0 genome.wustl.edu 37 19 23836865 23836865 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 23836865 23836865 G A SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known silent c.870 p.G290 0.998 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 ZNF675 HGNC ENSG00000197372 54 0 0 25 19 43.1818 TSHZ3 0 genome.wustl.edu 37 19 31769253 31769253 + Missense_Mutation SNP G G C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 31769253 31769253 G C SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.1446 p.D482E 0.002 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 257 1 0.387597 123 70 36.2694 S1PR4 0 genome.wustl.edu 37 19 3179829 3179829 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 3179829 3179829 G A SNP S1PR4 ENST00000246115 human ensembl 74_37 +1 known missense c.1039 p.G347R 0.005 prints_EDG6_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR4 HGNC ENSG00000125910 106 0 0 133 22 14.1935 ATP4A 0 genome.wustl.edu 37 19 36046611 36046611 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 36046611 36046611 C T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.1973 p.R658H 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 120 1 0.826446 104 84 44.6809 PIP5K1C 0 genome.wustl.edu 37 19 3633441 3633441 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 3633441 3633441 G A SNP PIP5K1C ENST00000335312 human ensembl 74_37 -1 known silent c.1998 p.S666 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 14 0 0 9 4 30.7692 ZNF568 0 genome.wustl.edu 37 19 37441358 37441358 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 37441358 37441358 G A SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.1303 p.V435I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 74 0 0 32 16 33.3333 ZNF793 0 genome.wustl.edu 37 19 38027860 38027860 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 38027860 38027860 C T SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known silent c.300 p.G100 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ENSG00000188227 29 0 0 15 7 31.8182 DLL3 0 genome.wustl.edu 37 19 39995901 39995901 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 39995901 39995901 G A SNP DLL3 ENST00000205143 human ensembl 74_37 +1 known silent c.903 p.P301 0.970 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 87 0 0 70 43 38.0531 FCGBP 0 genome.wustl.edu 37 19 40398365 40398365 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 40398365 40398365 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.6602 p.A2201V 0.409 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 150 0 0 180 33 15.493 LTBP4 0 genome.wustl.edu 37 19 41105349 41105349 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 41105349 41105349 C T SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known silent c.228 p.C76 0.924 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 123 0 0 82 58 41.4286 CYP2A6 0 genome.wustl.edu 37 19 41351354 41351354 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 41351354 41351354 C T SNP CYP2A6 ENST00000301141 human ensembl 74_37 -1 known missense c.1006 p.G336S 0.999 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 68 0 0 33 26 44.0678 CCDC97 0 genome.wustl.edu 37 19 41822685 41822685 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 41822685 41822685 G A SNP CCDC97 ENST00000269967 human ensembl 74_37 +1 known missense c.443 p.R148H 0.916 NULL pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 54 0 0 42 32 43.2432 PRR19 0 genome.wustl.edu 37 19 42813866 42813866 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 42813866 42813866 G A SNP PRR19 ENST00000341747 human ensembl 74_37 +1 known missense c.130 p.D44N 0.323 NULL NULL - no_errors PRR19 HGNC ENSG00000188368 95 0 0 75 65 46.4286 MEGF8 0 genome.wustl.edu 37 19 42856601 42856601 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 42856601 42856601 A G SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.3343 p.N1115D 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 11 0 0 7 6 46.1538 FSD1 0 genome.wustl.edu 37 19 4323029 4323029 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 4323029 4323029 C T SNP FSD1 ENST00000221856 human ensembl 74_37 +1 known silent c.1086 p.Y362 0.531 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors FSD1 HGNC ENSG00000105255 17 0 0 17 10 37.037 ZNF221 0 genome.wustl.edu 37 19 44470960 44470960 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 44470960 44470960 C T SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known nonsense c.1306 p.R436* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF221 HGNC ENSG00000159905 73 0 0 29 21 42 BCAM 0 genome.wustl.edu 37 19 45317965 45317965 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 45317965 45317965 C T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known silent c.1026 p.Y342 0.023 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 49 0 0 45 28 38.3562 ZNF296 0 genome.wustl.edu 37 19 45575805 45575805 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 45575805 45575805 C T SNP ZNF296 ENST00000303809 human ensembl 74_37 -1 known missense c.482 p.R161H 0.126 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF296 HGNC ENSG00000170684 59 0 0 52 23 30.6667 PPP1R13L 0 genome.wustl.edu 37 19 45895174 45895174 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 45895174 45895174 C T SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known silent c.1779 p.P593 0.000 superfamily_SH3_domain pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 62 0 0 64 10 13.5135 CCDC8 0 genome.wustl.edu 37 19 46914615 46914615 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 46914615 46914615 G A SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known missense c.1453 p.R485C 0.752 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 64 0 0 61 33 35.1064 SLC8A2 0 genome.wustl.edu 37 19 47951139 47951139 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 47951139 47951139 C T SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.1690 p.G564S 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 12 0 0 11 12 52.1739 GRIN2D 0 genome.wustl.edu 37 19 48908240 48908240 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 48908240 48908240 G A SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known missense c.715 p.V239I 0.845 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 56 0 0 47 36 43.3735 SPHK2 0 genome.wustl.edu 37 19 49132911 49132911 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 49132911 49132911 C T SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known missense c.2032 p.R678C 0.078 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 13 0 0 7 2 22.2222 NUCB1 0 genome.wustl.edu 37 19 49404120 49404120 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 49404120 49404120 G A SNP NUCB1 ENST00000263273 human ensembl 74_37 +1 known missense c.67 p.A23T 0.010 NULL pfscan_EF_hand_dom - no_errors NUCB1 HGNC ENSG00000104805 43 0 0 45 26 36.6197 HRC 0 genome.wustl.edu 37 19 49657889 49657889 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 49657889 49657889 T C SNP HRC ENST00000252825 human ensembl 74_37 -1 known silent c.606 p.E202 0.000 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 47 0 0 30 4 11.7647 PRR12 0 genome.wustl.edu 37 19 50099948 50099948 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 50099948 50099948 G A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.2356 p.G786R 0.995 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 26 0 0 22 14 38.8889 PRR12 0 genome.wustl.edu 37 19 50128792 50128792 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 50128792 50128792 G A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.6039 p.P2013 0.851 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 17 0 0 16 12 42.8571 MYH14 0 genome.wustl.edu 37 19 50764826 50764826 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 50764826 50764826 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.2519 p.R840Q 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 17 0 0 23 15 39.4737 LRRC4B 0 genome.wustl.edu 37 19 51020885 51020885 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 51020885 51020885 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known silent c.2085 p.H695 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 27 0 0 30 19 38.7755 KLK5 0 genome.wustl.edu 37 19 51453318 51453318 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 51453318 51453318 G T SNP KLK5 ENST00000336334 human ensembl 74_37 -1 known missense c.128 p.P43H 0.003 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK5 HGNC ENSG00000167754 19 0 0 22 12 35.2941 FPR3 0 genome.wustl.edu 37 19 52327577 52327577 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 52327577 52327577 C T SNP FPR3 ENST00000339223 human ensembl 74_37 +1 known silent c.576 p.N192 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR3 HGNC ENSG00000187474 125 0 0 69 50 42.0168 ZNF615 0 genome.wustl.edu 37 19 52497070 52497070 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 52497070 52497070 C T SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.1292 p.R431Q 0.999 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 ZNF615 HGNC ENSG00000197619 60 0 0 30 19 38.7755 ZNF432 0 genome.wustl.edu 37 19 52537843 52537843 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 52537843 52537843 A G SNP ZNF432 ENST00000221315 human ensembl 74_37 -1 known silent c.1089 p.H363 0.964 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 ZNF432 HGNC ENSG00000256087 115 0 0 50 30 37.5 ZNF331 0 genome.wustl.edu 37 19 54080407 54080407 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 54080407 54080407 G T SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known missense c.593 p.W198L 0.004 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 ZNF331 HGNC ENSG00000130844 88 0 0 31 27 46.5517 NLRP9 0 genome.wustl.edu 37 19 56228095 56228095 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 56228095 56228095 T C SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.2329 p.M777V 0.002 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 87 0 0 39 33 45.8333 ZNF835 0 genome.wustl.edu 37 19 57176318 57176318 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 57176318 57176318 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.249 p.C83 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 41 0 0 27 35 56.4516 PEG3 0 genome.wustl.edu 37 19 57325147 57325147 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 57325147 57325147 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.4663 p.G1555S 0.002 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 87 0 0 35 26 42.623 RFX2 0 genome.wustl.edu 37 19 6040096 6040096 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 6040096 6040096 G A SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known silent c.417 p.V139 0.997 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 38 0 0 41 34 45.3333 FBN3 0 genome.wustl.edu 37 19 8201136 8201136 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 8201136 8201136 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.1403 p.G468D 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 86 0 0 68 53 43.8017 ELANE 0 genome.wustl.edu 37 19 853026 853026 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 853026 853026 C T SNP ELANE ENST00000263621 human ensembl 74_37 +1 known missense c.218 p.A73V 0.041 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 12 0 0 1 2 66.6667 PRAM1 0 genome.wustl.edu 37 19 8563446 8563446 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 8563446 8563446 G A SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.1246 p.P416S 0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 25 0 0 18 10 35.7143 MYO1F 0 genome.wustl.edu 37 19 8601234 8601234 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 8601234 8601234 C T SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.1945 p.E649K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 62 0 0 63 42 40 MUC16 0 genome.wustl.edu 37 19 9061788 9061788 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 9061788 9061788 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.25658 p.P8553H 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 53 0 0 22 9 29.0323 ZNF317 0 genome.wustl.edu 37 19 9267982 9267982 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 9267982 9267982 C T SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known silent c.201 p.T67 0.688 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF317 HGNC ENSG00000130803 53 0 0 18 14 43.75 ARID3A 0 genome.wustl.edu 37 19 971946 971946 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 971946 971946 G A SNP ARID3A ENST00000263620 human ensembl 74_37 +1 known missense c.1663 p.G555S 0.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ENSG00000116017 41 0 0 27 18 40 ARID3A 0 genome.wustl.edu 37 19 971952 971952 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 971952 971952 A G SNP ARID3A ENST00000263620 human ensembl 74_37 +1 known missense c.1669 p.S557G 0.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ENSG00000116017 35 0 0 27 14 34.1463 SLC9A4 0 genome.wustl.edu 37 2 103124628 103124628 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 103124628 103124628 G A SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.1289 p.R430Q 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 76 0 0 31 25 44.6429 NCK2 0 genome.wustl.edu 37 2 106498349 106498349 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 106498349 106498349 G A SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known silent c.792 p.A264 0.070 superfamily_SH3_domain,pirsf_Cytoplasmic_NCK pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 43 0 0 73 15 17.0455 ST6GAL2 0 genome.wustl.edu 37 2 107423211 107423211 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 107423211 107423211 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.1513 p.R505C 0.726 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 63 0 0 44 56 56 RGPD4 0 genome.wustl.edu 37 2 108487646 108487646 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 108487646 108487646 A G SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known silent c.3186 p.S1062 0.983 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 495 0 0 263 139 34.5771 FOXD4L1 0 genome.wustl.edu 37 2 114257147 114257147 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 114257147 114257147 C T SNP FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known missense c.314 p.P105L 0.886 smart_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 114 0 0 91 102 52.8497 NCKAP5 0 genome.wustl.edu 37 2 133540153 133540153 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 133540153 133540153 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.4231 p.R1411C 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 44 0 0 35 32 47.7612 TMEM163 0 genome.wustl.edu 37 2 135215710 135215710 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 135215710 135215710 G T SNP TMEM163 ENST00000281924 human ensembl 74_37 -1 known missense c.702 p.F234L 1.000 NULL NULL - no_errors TMEM163 HGNC ENSG00000152128 59 0 0 53 33 38.3721 THSD7B 0 genome.wustl.edu 37 2 138000026 138000026 + Splice_Site SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 138000026 138000026 G T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known splice_site c.2151-1 e9-1 1.000 - - - no_errors THSD7B HGNC ENSG00000144229 38 0 0 17 7 29.1667 TPO 0 genome.wustl.edu 37 2 1491735 1491735 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 1491735 1491735 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.1740 p.L580 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 89 0 0 40 29 42.029 NEB 0 genome.wustl.edu 37 2 152581448 152581448 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 152581448 152581448 C A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.430 p.A144S 1.000 pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 43 0 0 19 12 38.7097 ACVR1C 0 genome.wustl.edu 37 2 158390496 158390496 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 158390496 158390496 G A SNP ACVR1C ENST00000243349 human ensembl 74_37 -1 known silent c.1416 p.R472 0.991 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1C HGNC ENSG00000123612 61 0 0 54 36 40 CSRNP3 0 genome.wustl.edu 37 2 166535568 166535568 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 166535568 166535568 G A SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.1063 p.G355R 0.999 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 74 0 0 62 34 35.4167 PMS1 0 genome.wustl.edu 37 2 190718672 190718672 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 190718672 190718672 G A SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known missense c.830 p.R277Q 1.000 pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 38 0 0 23 16 41.0256 ANKRD44 0 genome.wustl.edu 37 2 197986076 197986076 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 197986076 197986076 C A SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known missense c.811 p.G271W 1.000 pfam_Ankyrin_rpt,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 61 0 0 32 14 30.4348 KCTD18 0 genome.wustl.edu 37 2 201362476 201362476 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 201362476 201362476 C A SNP KCTD18 ENST00000359878 human ensembl 74_37 -1 known missense c.661 p.G221C 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 112 0 0 46 38 45.2381 CYP20A1 0 genome.wustl.edu 37 2 204150338 204150338 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 204150338 204150338 G A SNP CYP20A1 ENST00000356079 human ensembl 74_37 +1 known missense c.854 p.C285Y 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV - no_errors CYP20A1 HGNC ENSG00000119004 53 0 0 35 10 22.2222 PUM2 0 genome.wustl.edu 37 2 20463159 20463159 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 20463159 20463159 G A SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known nonsense c.2020 p.R674* 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 61 0 0 32 27 45.7627 PUM2 0 genome.wustl.edu 37 2 20494174 20494174 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 20494174 20494174 T C SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known missense c.1115 p.Q372R 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 101 0 0 83 40 32.5203 PARD3B 0 genome.wustl.edu 37 2 205969158 205969158 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 205969158 205969158 G A SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known silent c.513 p.T171 0.056 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 79 0 0 33 32 49.2308 PARD3B 0 genome.wustl.edu 37 2 206364664 206364664 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 206364664 206364664 G A SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.3089 p.R1030Q 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 130 0 0 72 42 36.8421 FN1 0 genome.wustl.edu 37 2 216232726 216232726 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 216232726 216232726 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.6878 p.T2293M 0.020 NULL pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 55 0 0 29 28 49.1228 FN1 0 genome.wustl.edu 37 2 216240005 216240005 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 216240005 216240005 T G SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.6089 p.K2030T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 80 0 0 43 22 33.8462 ZNF142 0 genome.wustl.edu 37 2 219507531 219507531 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 219507531 219507531 C T SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known silent c.3708 p.T1236 0.764 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 126 0 0 138 16 10.3896 FAM124B 0 genome.wustl.edu 37 2 225266089 225266089 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 225266089 225266089 A C SNP FAM124B ENST00000409685 human ensembl 74_37 -1 known missense c.397 p.C133G 0.153 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 40 0 0 26 24 48 NMUR1 0 genome.wustl.edu 37 2 232393149 232393149 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 232393149 232393149 G A SNP NMUR1 ENST00000305141 human ensembl 74_37 -1 known missense c.583 p.P195S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_1,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR1 HGNC ENSG00000171596 29 0 0 26 16 38.0952 ALPP 0 genome.wustl.edu 37 2 233246214 233246214 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 233246214 233246214 C T SNP ALPP ENST00000392027 human ensembl 74_37 +1 known silent c.1317 p.P439 0.372 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 23 0 0 18 14 43.75 AGAP1 0 genome.wustl.edu 37 2 236877175 236877175 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 236877175 236877175 C T SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.1553 p.P518L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 48 0 0 49 31 38.75 COL6A3 0 genome.wustl.edu 37 2 238283516 238283516 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 238283516 238283516 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.3218 p.S1073N 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 64 0 0 62 29 31.8681 COL6A3 0 genome.wustl.edu 37 2 238296516 238296516 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 238296516 238296516 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.1021 p.R341C 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 27 0 0 24 13 35.1351 HDAC4 0 genome.wustl.edu 37 2 240002800 240002800 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 240002800 240002800 G A SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.2726 p.A909V 0.955 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 16 0 0 28 11 28.2051 PASK 0 genome.wustl.edu 37 2 242065963 242065963 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 242065963 242065963 C T SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.2367 p.S789 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 72 0 0 29 21 42 DRC1 0 genome.wustl.edu 37 2 26667583 26667583 + Splice_Site SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 26667583 26667583 G T SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known splice_site c.1164-1 e10-1 1.000 - - - no_errors DRC1 HGNC ENSG00000157856 20 0 0 6 9 60 PREB 0 genome.wustl.edu 37 2 27356049 27356049 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 27356049 27356049 C T SNP PREB ENST00000260643 human ensembl 74_37 -1 known missense c.482 p.C161Y 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PREB HGNC ENSG00000138073 237 0 0 113 80 41.4508 WDR43 0 genome.wustl.edu 37 2 29136984 29136984 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 29136984 29136984 T C SNP WDR43 ENST00000407426 human ensembl 74_37 +1 known missense c.656 p.I219T 0.445 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC ENSG00000163811 50 0 0 20 14 41.1765 EHD3 0 genome.wustl.edu 37 2 31483572 31483572 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 31483572 31483572 C T SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known silent c.699 p.Y233 0.987 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 49 0 0 44 27 38.0282 LTBP1 0 genome.wustl.edu 37 2 33589400 33589400 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 33589400 33589400 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.4520 p.C1507Y 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 61 0 0 22 21 48.8372 TRAPPC12 0 genome.wustl.edu 37 2 3469465 3469465 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 3469465 3469465 A G SNP TRAPPC12 ENST00000324266 human ensembl 74_37 +1 known missense c.1775 p.Q592R 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 53 0 0 45 32 41.5584 PRKCE 0 genome.wustl.edu 37 2 46234741 46234741 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 46234741 46234741 C T SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.1204 p.R402C 1.000 superfamily_Kinase-like_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 49 0 0 25 35 58.3333 SPTBN1 0 genome.wustl.edu 37 2 54856759 54856759 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 54856759 54856759 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.2488 p.R830W 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 48 0 0 51 33 39.2857 AHSA2 0 genome.wustl.edu 37 2 61413678 61413678 + RNA SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 61413678 61413678 T C SNP AHSA2 ENST00000491217 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors AHSA2 HGNC ENSG00000173209 48 0 0 24 14 36.8421 ENSG00000229839 0 genome.wustl.edu 37 2 62373950 62373950 + RNA SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 62373950 62373950 C T SNP ENSG00000229839 ENST00000421323 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC018462.2 Clone_based_vega_gene ENSG00000229839 54 0 0 37 16 30.1887 TET3 0 genome.wustl.edu 37 2 74326560 74326560 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 74326560 74326560 T C SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.3020 p.L1007P 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 32 0 0 23 19 45.2381 REG3G 0 genome.wustl.edu 37 2 79255050 79255050 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 79255050 79255050 A G SNP REG3G ENST00000272324 human ensembl 74_37 +1 known missense c.451 p.R151G 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3G HGNC ENSG00000143954 86 0 0 50 29 36.7089 SPTLC3 0 genome.wustl.edu 37 20 13071817 13071817 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 13071817 13071817 G A SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known missense c.694 p.A232T 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 90 0 0 40 28 41.1765 TGM3 0 genome.wustl.edu 37 20 2298001 2298001 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 2298001 2298001 C T SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.853 p.R285W 0.956 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 88 0 0 69 47 40.5172 PTPRA 0 genome.wustl.edu 37 20 3007386 3007386 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 3007386 3007386 A G SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known silent c.1701 p.P567 0.850 pirsf_Tyr_Pase_rcpt_a/e-type,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 49 0 0 19 12 38.7097 PROCR 0 genome.wustl.edu 37 20 33764529 33764529 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 33764529 33764529 G A SNP PROCR ENST00000216968 human ensembl 74_37 +1 known silent c.630 p.S210 0.650 NULL pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 21 0 0 12 8 40 DLGAP4 0 genome.wustl.edu 37 20 35060934 35060934 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 35060934 35060934 G A SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.814 p.A272T 0.134 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 15 0 0 17 17 50 SAMHD1 0 genome.wustl.edu 37 20 35521451 35521451 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 35521451 35521451 G T SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known missense c.1765 p.P589T 0.489 NULL pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 81 0 0 45 14 23.7288 SIGLEC1 0 genome.wustl.edu 37 20 3675129 3675129 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 3675129 3675129 G A SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known nonsense c.2995 p.R999* 0.230 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 24 0 0 18 3 14.2857 SLC32A1 0 genome.wustl.edu 37 20 37357202 37357202 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 37357202 37357202 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.1498 p.G500S 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 15 0 0 22 16 42.1053 PLCG1 0 genome.wustl.edu 37 20 39801287 39801287 + Splice_Site SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 39801287 39801287 T C SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known splice_site c.3130+2 e26+2 1.000 - - - no_errors PLCG1 HGNC ENSG00000124181 32 0 0 18 18 50 PTPRT 0 genome.wustl.edu 37 20 41419958 41419958 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 41419958 41419958 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.363 p.N121 0.995 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 59 0 0 65 34 34.3434 MMP9 0 genome.wustl.edu 37 20 44641175 44641175 + Silent SNP G G C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 44641175 44641175 G C SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known silent c.1284 p.G428 0.271 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 62 0 0 60 31 34.0659 ZNFX1 0 genome.wustl.edu 37 20 47864574 47864574 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 47864574 47864574 G A SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.4987 p.R1663W 0.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 96 0 0 59 43 42.1569 B4GALT5 0 genome.wustl.edu 37 20 48252915 48252915 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 48252915 48252915 G A SNP B4GALT5 ENST00000371711 human ensembl 74_37 -1 known silent c.1101 p.Y367 0.002 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT5 HGNC ENSG00000158470 82 0 0 37 30 44.7761 SALL4 0 genome.wustl.edu 37 20 50408073 50408073 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 50408073 50408073 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.949 p.P317S 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 47 0 0 36 24 40 LAMA5 0 genome.wustl.edu 37 20 60886294 60886294 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 60886294 60886294 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known nonsense c.10012 p.R3338* 0.000 NULL 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 22 0 0 22 17 43.5897 DOPEY2 0 genome.wustl.edu 37 21 37581040 37581040 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 37581040 37581040 G A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known silent c.519 p.S173 0.156 pfam_Dopey_N pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 46 0 0 37 20 35.0877 DOPEY2 0 genome.wustl.edu 37 21 37605196 37605196 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 37605196 37605196 C A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known silent c.2445 p.S815 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 90 0 0 52 41 44.086 HLCS 0 genome.wustl.edu 37 21 38309376 38309376 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 38309376 38309376 C T SNP HLCS ENST00000336648 human ensembl 74_37 -1 known silent c.369 p.A123 0.035 NULL pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 58 0 0 26 19 42.2222 KRTAP10-10 0 genome.wustl.edu 37 21 46057624 46057624 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 46057624 46057624 C A SNP KRTAP10-10 ENST00000380095 human ensembl 74_37 +1 known missense c.290 p.P97H 0.047 NULL NULL - no_errors KRTAP10-10 HGNC ENSG00000221859 181 0 0 96 75 43.8596 SUMO3 0 genome.wustl.edu 37 21 46226885 46226885 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 46226885 46226885 A G SNP SUMO3 ENST00000411651 human ensembl 74_37 -1 known missense c.407 p.L136P 0.000 NULL pfam_Rad60/SUMO_like,pfscan_Ubiquitin_supergroup - no_errors SUMO3 HGNC ENSG00000184900 43 0 0 29 16 35.5556 FTCD 0 genome.wustl.edu 37 21 47571482 47571482 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 47571482 47571482 C A SNP FTCD ENST00000359679 human ensembl 74_37 -1 known missense c.626 p.G209V 0.995 pfam_Formiminotransferase_C,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 61 0 0 46 38 45.2381 DIP2A 0 genome.wustl.edu 37 21 47952045 47952045 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 47952045 47952045 G A SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known silent c.1203 p.A401 0.815 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 30 0 0 17 11 39.2857 IL17RA 0 genome.wustl.edu 37 22 17589282 17589282 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 17589282 17589282 C T SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known silent c.1173 p.Y391 0.846 pfam_SEFIR pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 52 0 0 33 19 36.5385 CECR1 0 genome.wustl.edu 37 22 17662900 17662900 + Missense_Mutation SNP C C G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 17662900 17662900 C G SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.1252 p.V418L 1.000 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 46 0 0 28 16 36.3636 CLTCL1 0 genome.wustl.edu 37 22 19175080 19175080 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 19175080 19175080 T C SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.4595 p.H1532R 0.302 pfam_Clathrin_H-chain/VPS_repeat,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 61 0 0 27 30 52.6316 ZDHHC8 0 genome.wustl.edu 37 22 20131091 20131091 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 20131091 20131091 G A SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known silent c.1938 p.L646 0.945 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 16 0 0 6 16 72.7273 GNAZ 0 genome.wustl.edu 37 22 23438292 23438292 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 23438292 23438292 C T SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known missense c.410 p.A137V 0.998 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 62 0 0 57 32 35.9551 CABIN1 0 genome.wustl.edu 37 22 24562756 24562756 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 24562756 24562756 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.5157 p.P1719 0.001 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 101 1 0.980392 55 45 45 SEC14L4 0 genome.wustl.edu 37 22 30891933 30891933 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 30891933 30891933 G A SNP SEC14L4 ENST00000540456 human ensembl 74_37 -1 known missense c.62 p.P21L 0.001 NULL pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD - no_errors SEC14L4 HGNC ENSG00000133488 32 0 0 20 9 31.0345 SMTN 0 genome.wustl.edu 37 22 31491333 31491333 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 31491333 31491333 G A SNP SMTN ENST00000347557 human ensembl 74_37 +1 known silent c.1677 p.A559 0.000 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 44 0 0 32 28 46.6667 MYH9 0 genome.wustl.edu 37 22 36698705 36698705 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 36698705 36698705 T C SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.2408 p.Q803R 1.000 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 49 0 0 52 40 43.4783 IFT27 0 genome.wustl.edu 37 22 37171798 37171798 + RNA SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 37171798 37171798 G A SNP IFT27 ENST00000476548 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors IFT27 HGNC ENSG00000100360 33 0 0 27 17 38.6364 GGA1 0 genome.wustl.edu 37 22 38021822 38021822 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 38021822 38021822 T C SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known missense c.959 p.L320P 1.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 45 0 0 41 29 41.4286 PICK1 0 genome.wustl.edu 37 22 38470380 38470380 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 38470380 38470380 C T SNP PICK1 ENST00000356976 human ensembl 74_37 +1 known missense c.901 p.R301C 1.000 pfam_AH_dom,pfam_BAR_dom,pfscan_AH_dom pfam_AH_dom,pfam_PDZ,pfam_BAR_dom,superfamily_PDZ,smart_PDZ,pfscan_AH_dom,pfscan_PDZ - no_errors PICK1 HGNC ENSG00000100151 43 0 0 30 11 26.8293 DNAL4 0 genome.wustl.edu 37 22 39175613 39175613 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 39175613 39175613 G A SNP DNAL4 ENST00000216068 human ensembl 74_37 -1 known silent c.159 p.A53 0.801 pfam_Dynein_light_chain_typ-1/2 pfam_Dynein_light_chain_typ-1/2 - no_errors DNAL4 HGNC ENSG00000100246 11 0 0 9 3 25 RANGAP1 0 genome.wustl.edu 37 22 41653969 41653969 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 41653969 41653969 C T SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known missense c.757 p.A253T 0.629 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 49 0 0 49 3 5.76923 RRP7B 0 genome.wustl.edu 37 22 42970690 42970690 + RNA SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 42970690 42970690 T C SNP RRP7B ENST00000357802 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RRP7B HGNC ENSG00000182841 13 0 0 5 6 54.5455 POLDIP3 0 genome.wustl.edu 37 22 43010846 43010846 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 43010846 43010846 C T SNP POLDIP3 ENST00000252115 human ensembl 74_37 -1 known silent c.18 p.L6 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors POLDIP3 HGNC ENSG00000100227 39 0 0 51 22 30.137 SCUBE1 0 genome.wustl.edu 37 22 43735179 43735179 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 43735179 43735179 G A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known nonsense c.151 p.Q51* 1.000 pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 54 0 0 38 34 47.2222 CELSR1 0 genome.wustl.edu 37 22 46860057 46860057 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 46860057 46860057 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.3730 p.V1244I 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 47 0 0 40 41 50.6173 TBC1D22A 0 genome.wustl.edu 37 22 47274558 47274558 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 47274558 47274558 G A SNP TBC1D22A ENST00000337137 human ensembl 74_37 +1 known missense c.647 p.R216Q 0.382 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 74 0 0 55 27 32.9268 TUBGCP6 0 genome.wustl.edu 37 22 50658779 50658779 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 50658779 50658779 C T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.4009 p.G1337R 0.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 37 0 0 19 11 36.6667 SBF1 0 genome.wustl.edu 37 22 50901738 50901738 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 50901738 50901738 C T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.1873 p.V625I 0.998 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 21 0 0 13 5 27.7778 MYH15 0 genome.wustl.edu 37 3 108220694 108220694 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 108220694 108220694 G A SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known silent c.264 p.S88 0.077 pfam_Myosin_N,superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 102 0 0 104 39 27.2727 ABHD10 0 genome.wustl.edu 37 3 111700631 111700631 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 111700631 111700631 C A SNP ABHD10 ENST00000273359 human ensembl 74_37 +1 known missense c.143 p.A48D 0.998 NULL pfam_AB_hydrolase_1,pfam_Peptidase_S9 - no_errors ABHD10 HGNC ENSG00000144827 56 0 0 52 22 29.7297 CCDC80 0 genome.wustl.edu 37 3 112357944 112357944 + Missense_Mutation SNP T T A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 112357944 112357944 T A SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.809 p.E270V 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 102 0 0 137 20 12.7389 SIDT1 0 genome.wustl.edu 37 3 113320472 113320472 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 113320472 113320472 C T SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known silent c.1083 p.A361 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 35 0 0 33 13 28.2609 SIDT1 0 genome.wustl.edu 37 3 113329946 113329946 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 113329946 113329946 C A SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known silent c.1812 p.A604 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 109 0 0 108 34 23.9437 KIAA2018 0 genome.wustl.edu 37 3 113375167 113375167 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 113375167 113375167 G T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.5362 p.R1788S 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 189 0 0 128 59 31.5508 ZDHHC23 0 genome.wustl.edu 37 3 113679589 113679589 + RNA SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 113679589 113679589 C T SNP ZDHHC23 ENST00000488129 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors ZDHHC23 HGNC ENSG00000184307 35 0 0 45 24 34.7826 PDIA5 0 genome.wustl.edu 37 3 122808030 122808030 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 122808030 122808030 T C SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known missense c.58 p.W20R 0.562 NULL pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 76 0 0 54 25 31.6456 ADCY5 0 genome.wustl.edu 37 3 123022987 123022987 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 123022987 123022987 C T SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known missense c.2486 p.R829Q 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 33 0 0 40 11 21.5686 MYLK 0 genome.wustl.edu 37 3 123383021 123383021 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 123383021 123383021 C T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.3916 p.G1306S 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 176 0 0 332 124 27.193 KALRN 0 genome.wustl.edu 37 3 124103833 124103833 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 124103833 124103833 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.1906 p.R636W 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 60 0 0 71 27 27.551 MCM2 0 genome.wustl.edu 37 3 127339709 127339709 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 127339709 127339709 C T SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known missense c.2434 p.R812C 1.000 superfamily_P-loop_NTPase pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 105 0 0 203 21 9.375 KBTBD12 0 genome.wustl.edu 37 3 127642066 127642066 + Silent SNP T T A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 127642066 127642066 T A SNP KBTBD12 ENST00000405109 human ensembl 74_37 +1 known silent c.162 p.P54 0.961 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 49 0 0 22 11 33.3333 DNAJC13 0 genome.wustl.edu 37 3 132193882 132193882 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 132193882 132193882 G A SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.2398 p.E800K 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 93 0 0 78 19 19.5876 NUP210 0 genome.wustl.edu 37 3 13461671 13461671 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 13461671 13461671 G A SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.56 p.A19V 0.857 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 16 0 0 19 12 38.7097 DZIP1L 0 genome.wustl.edu 37 3 137822381 137822381 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 137822381 137822381 G A SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.433 p.R145W 0.960 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 22 0 0 30 12 28.5714 DBR1 0 genome.wustl.edu 37 3 137886126 137886126 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 137886126 137886126 A C SNP DBR1 ENST00000260803 human ensembl 74_37 -1 known missense c.511 p.F171V 1.000 pfam_PEstase_dom pfam_DBR1_C,pfam_PEstase_dom - no_errors DBR1 HGNC ENSG00000138231 46 0 0 33 17 34 MRAS 0 genome.wustl.edu 37 3 138116242 138116242 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 138116242 138116242 C T SNP MRAS ENST00000289104 human ensembl 74_37 +1 known silent c.270 p.I90 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors MRAS HGNC ENSG00000158186 30 0 0 54 18 25 XRN1 0 genome.wustl.edu 37 3 142142403 142142403 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 142142403 142142403 G A SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.709 p.R237W 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 39 0 0 24 14 36.8421 PAQR9 0 genome.wustl.edu 37 3 142681449 142681449 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 142681449 142681449 T C SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.730 p.T244A 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 59 0 0 106 48 31.1688 SLC6A6 0 genome.wustl.edu 37 3 14489115 14489115 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 14489115 14489115 T C SNP SLC6A6 ENST00000360861 human ensembl 74_37 +1 known silent c.390 p.I130 0.999 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 438 0 0 421 178 29.7162 SIAH2 0 genome.wustl.edu 37 3 150480304 150480304 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 150480304 150480304 G A SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known silent c.333 p.C111 1.000 pfscan_Znf_RING pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 20 0 0 29 16 35.5556 AADACL2 0 genome.wustl.edu 37 3 151463416 151463416 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 151463416 151463416 G A SNP AADACL2 ENST00000356517 human ensembl 74_37 +1 known missense c.551 p.C184Y 0.010 pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 95 0 0 96 34 26.1538 GMPS 0 genome.wustl.edu 37 3 155652794 155652794 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 155652794 155652794 G A SNP GMPS ENST00000496455 human ensembl 74_37 +1 known missense c.1766 p.R589H 1.000 pfam_GMP_synth_C pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 125 0 0 120 34 22.0779 TIPARP 0 genome.wustl.edu 37 3 156413783 156413783 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 156413783 156413783 C T SNP TIPARP ENST00000295924 human ensembl 74_37 +1 known missense c.1216 p.R406C 1.000 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 69 0 0 69 37 34.9057 SLC2A2 0 genome.wustl.edu 37 3 170725022 170725022 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 170725022 170725022 A G SNP SLC2A2 ENST00000314251 human ensembl 74_37 -1 known missense c.527 p.I176T 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A2 HGNC ENSG00000163581 30 0 0 31 9 22.5 ATP11B 0 genome.wustl.edu 37 3 182597414 182597414 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 182597414 182597414 A G SNP ATP11B ENST00000323116 human ensembl 74_37 +1 known missense c.2383 p.M795V 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP11B HGNC ENSG00000058063 59 0 0 46 21 31.3433 HTR3D 0 genome.wustl.edu 37 3 183756689 183756689 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 183756689 183756689 G A SNP HTR3D ENST00000382489 human ensembl 74_37 +1 known missense c.1291 p.A431T 0.393 superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 92 0 0 144 61 29.7561 FAM131A 0 genome.wustl.edu 37 3 184062665 184062665 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 184062665 184062665 G A SNP FAM131A ENST00000383847 human ensembl 74_37 +1 known silent c.1008 p.T336 0.039 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 43 0 0 46 16 25.8065 KNG1 0 genome.wustl.edu 37 3 186456939 186456939 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 186456939 186456939 T C SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known missense c.982 p.C328R 0.964 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 30 0 0 26 12 31.5789 LRRC15 0 genome.wustl.edu 37 3 194080702 194080702 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 194080702 194080702 G A SNP LRRC15 ENST00000439944 human ensembl 74_37 -1 known silent c.1089 p.D363 0.001 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 34 0 0 50 20 28.5714 GP5 0 genome.wustl.edu 37 3 194118269 194118269 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 194118269 194118269 G A SNP GP5 ENST00000323007 human ensembl 74_37 -1 known missense c.743 p.T248M 0.001 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 121 0 0 231 82 26.1981 LSG1 0 genome.wustl.edu 37 3 194366916 194366916 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 194366916 194366916 A G SNP LSG1 ENST00000265245 human ensembl 74_37 -1 known missense c.1600 p.Y534H 1.000 NULL pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 120 0 0 121 47 27.9762 FAM43A 0 genome.wustl.edu 37 3 194407806 194407806 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 194407806 194407806 G A SNP FAM43A ENST00000329759 human ensembl 74_37 +1 known missense c.251 p.R84H 1.000 smart_PTB/PI_dom smart_PTB/PI_dom - no_errors FAM43A HGNC ENSG00000185112 68 0 0 89 22 19.8198 PDCD6IP 0 genome.wustl.edu 37 3 33907950 33907950 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 33907950 33907950 C T SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known missense c.2555 p.P852L 1.000 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 95 0 0 76 30 28.3019 DCLK3 0 genome.wustl.edu 37 3 36763063 36763063 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 36763063 36763063 A G SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.1540 p.C514R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_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 DCLK3 HGNC ENSG00000163673 79 0 0 37 57 60.6383 TRANK1 0 genome.wustl.edu 37 3 36872969 36872969 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 36872969 36872969 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.7973 p.R2658Q 0.878 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 17 0 0 9 17 65.3846 HHATL 0 genome.wustl.edu 37 3 42735292 42735292 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 42735292 42735292 A G SNP HHATL ENST00000310417 human ensembl 74_37 -1 known silent c.1065 p.I355 0.264 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHATL HGNC ENSG00000010282 43 0 0 37 27 42.1875 PTH1R 0 genome.wustl.edu 37 3 46943283 46943283 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 46943283 46943283 G A SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.1144 p.V382I 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 50 0 0 44 45 50.5618 ARIH2 0 genome.wustl.edu 37 3 49004695 49004695 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 49004695 49004695 C T SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known silent c.525 p.D175 0.974 pfscan_Znf_RING pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 109 0 0 115 46 28.5714 DAG1 0 genome.wustl.edu 37 3 49548245 49548245 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 49548245 49548245 T G SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known missense c.278 p.I93S 0.927 superfamily_Cadherin-like,smart_Cadg pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 30 0 0 21 18 46.1538 CDHR4 0 genome.wustl.edu 37 3 49836474 49836474 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 49836474 49836474 T C SNP CDHR4 ENST00000412678 human ensembl 74_37 -1 known missense c.356 p.Q119R 0.029 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR4 HGNC ENSG00000187492 14 0 0 16 9 36 MST1R 0 genome.wustl.edu 37 3 49929015 49929015 + Splice_Site SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 49929015 49929015 T C SNP MST1R ENST00000296474 human ensembl 74_37 -1 known splice_site c.3353-2 e16-2 1.000 - - - no_errors MST1R HGNC ENSG00000164078 63 0 0 115 32 21.7687 ITIH4 0 genome.wustl.edu 37 3 52854794 52854794 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 52854794 52854794 C T SNP ITIH4 ENST00000266041 human ensembl 74_37 -1 known missense c.1687 p.A563T 0.050 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 46 0 0 34 11 24.4444 IL17RD 0 genome.wustl.edu 37 3 57132299 57132299 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 57132299 57132299 C T SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known missense c.1432 p.V478I 1.000 pfam_SEFIR pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 37 0 0 54 18 25 PXK 0 genome.wustl.edu 37 3 58351616 58351616 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 58351616 58351616 G A SNP PXK ENST00000356151 human ensembl 74_37 +1 known missense c.118 p.V40M 0.941 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom - no_errors PXK HGNC ENSG00000168297 25 0 0 30 10 25 PXK 0 genome.wustl.edu 37 3 58376325 58376325 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 58376325 58376325 G A SNP PXK ENST00000468776 human ensembl 74_37 +1 known missense c.119 p.R40K 0.341 NULL NULL - no_errors PXK HGNC ENSG00000168297 41 0 0 36 9 20 ROBO2 0 genome.wustl.edu 37 3 77617584 77617584 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 77617584 77617584 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.1970 p.T657M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - no_errors ROBO2 HGNC ENSG00000185008 59 0 0 55 13 19.1176 MTHFD2P1 0 genome.wustl.edu 37 3 95374407 95374407 + RNA SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 95374407 95374407 T C SNP MTHFD2P1 ENST00000494840 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MTHFD2P1 HGNC ENSG00000244681 61 0 0 57 12 17.3913 CPNE9 0 genome.wustl.edu 37 3 9767682 9767682 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 9767682 9767682 A G SNP CPNE9 ENST00000383832 human ensembl 74_37 +1 known missense c.1291 p.I431V 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE9 HGNC ENSG00000144550 88 0 0 85 22 20.5607 MTTP 0 genome.wustl.edu 37 4 100543904 100543904 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 100543904 100543904 G A SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.2584 p.V862I 0.001 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 89 0 0 51 25 32.8947 FGFRL1 0 genome.wustl.edu 37 4 1018193 1018193 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 1018193 1018193 C T SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known silent c.813 p.R271 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 76 0 0 56 29 34.1176 MANBA 0 genome.wustl.edu 37 4 103635670 103635670 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 103635670 103635670 C T SNP MANBA ENST00000226578 human ensembl 74_37 -1 known missense c.598 p.G200R 1.000 pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 38 0 0 24 6 20 ZNF518B 0 genome.wustl.edu 37 4 10445986 10445986 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 10445986 10445986 G A SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known missense c.1967 p.T656M 0.008 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 142 0 0 76 14 15.5556 LEF1 0 genome.wustl.edu 37 4 108999528 108999528 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 108999528 108999528 G A SNP LEF1 ENST00000265165 human ensembl 74_37 -1 known missense c.856 p.H286Y 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors LEF1 HGNC ENSG00000138795 183 0 0 87 72 45.283 CTBP1 0 genome.wustl.edu 37 4 1208171 1208171 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 1208171 1208171 G A SNP CTBP1 ENST00000290921 human ensembl 74_37 -1 known missense c.853 p.R285C 1.000 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors CTBP1 HGNC ENSG00000159692 8 0 0 5 3 37.5 PRDM5 0 genome.wustl.edu 37 4 121843685 121843685 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 121843685 121843685 G A SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known missense c.79 p.R27C 0.999 smart_SET_dom,pirsf_Znf_PRDM5,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 24 0 0 19 13 40.625 ANKRD50 0 genome.wustl.edu 37 4 125592251 125592251 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 125592251 125592251 G A SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known silent c.2181 p.H727 0.863 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 95 0 0 45 18 28.5714 BOD1L1 0 genome.wustl.edu 37 4 13601959 13601959 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 13601959 13601959 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.6565 p.D2189N 0.816 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 46 0 0 39 23 37.0968 TBC1D9 0 genome.wustl.edu 37 4 141590817 141590817 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 141590817 141590817 G A SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.1408 p.R470W 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 29 0 0 25 10 28.5714 USP38 0 genome.wustl.edu 37 4 144106875 144106875 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 144106875 144106875 A G SNP USP38 ENST00000307017 human ensembl 74_37 +1 known missense c.272 p.Q91R 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 50 0 0 35 20 36.3636 MAB21L2 0 genome.wustl.edu 37 4 151505070 151505070 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 151505070 151505070 G T SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known missense c.889 p.G297C 1.000 pfam_Mab-21_dom,pfscan_Ricin_B_lectin pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 65 0 0 79 15 15.9574 DCHS2 0 genome.wustl.edu 37 4 155254527 155254527 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 155254527 155254527 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1336 p.V446M 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 56 0 0 65 39 37.5 DDX60 0 genome.wustl.edu 37 4 169227858 169227858 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 169227858 169227858 G A SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.278 p.A93V 0.008 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 56 0 0 36 24 40 FGFR3 0 genome.wustl.edu 37 4 1804680 1804680 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 1804680 1804680 C T SNP FGFR3 ENST00000340107 human ensembl 74_37 +1 known missense c.970 p.R324C 0.999 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 15 0 0 8 7 46.6667 SLIT2 0 genome.wustl.edu 37 4 20597371 20597371 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 20597371 20597371 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.3234 p.D1078 0.227 smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 125 1 0.793651 73 50 40.6504 FAM193A 0 genome.wustl.edu 37 4 2698298 2698298 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 2698298 2698298 G A SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known missense c.2612 p.R871Q 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 31 0 0 24 14 36.8421 PCDH7 0 genome.wustl.edu 37 4 30723127 30723127 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 30723127 30723127 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.83 p.A28V 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 12 0 0 18 13 41.9355 HTT 0 genome.wustl.edu 37 4 3189409 3189409 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 3189409 3189409 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.5021 p.S1674L 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 120 0 0 49 48 49.4845 HGFAC 0 genome.wustl.edu 37 4 3449696 3449696 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 3449696 3449696 G A SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known missense c.1570 p.E524K 0.633 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 10 0 0 16 3 15.7895 KCTD8 0 genome.wustl.edu 37 4 44449851 44449851 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 44449851 44449851 C T SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known silent c.690 p.R230 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 13 0 0 7 13 65 ATP10D 0 genome.wustl.edu 37 4 47525167 47525167 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 47525167 47525167 G A SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known silent c.624 p.E208 1.000 pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP10D HGNC ENSG00000145246 55 0 0 15 17 53.125 CNGA1 0 genome.wustl.edu 37 4 47954605 47954605 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 47954605 47954605 T C SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known silent c.321 p.A107 0.948 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 40 0 0 16 12 42.8571 KIT 0 genome.wustl.edu 37 4 55524194 55524194 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 55524194 55524194 C T SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.13 p.R5C 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 31 0 0 24 17 41.4634 PPAT 0 genome.wustl.edu 37 4 57267591 57267591 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 57267591 57267591 T C SNP PPAT ENST00000264220 human ensembl 74_37 -1 known missense c.791 p.Q264R 0.218 pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 22 0 0 8 7 46.6667 ART3 0 genome.wustl.edu 37 4 77003516 77003516 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 77003516 77003516 C T SNP ART3 ENST00000355810 human ensembl 74_37 +1 known silent c.609 p.I203 0.930 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART3 HGNC ENSG00000156219 56 0 0 20 15 42.8571 SHROOM3 0 genome.wustl.edu 37 4 77662485 77662485 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 77662485 77662485 C T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known silent c.3159 p.S1053 0.000 pfam_ASD1 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 15 0 0 15 11 42.3077 FRAS1 0 genome.wustl.edu 37 4 79188036 79188036 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 79188036 79188036 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.736 p.R246W 0.910 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 10 0 0 8 6 42.8571 MMRN1 0 genome.wustl.edu 37 4 90872776 90872776 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 90872776 90872776 C T SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.3139 p.R1047W 0.048 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 39 0 0 28 14 33.3333 SLCO4C1 0 genome.wustl.edu 37 5 101606375 101606375 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 101606375 101606375 G A SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.755 p.A252V 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 47 0 0 21 12 36.3636 HSD17B4 0 genome.wustl.edu 37 5 118829515 118829515 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 118829515 118829515 C T SNP HSD17B4 ENST00000256216 human ensembl 74_37 +1 known missense c.742 p.R248C 1.000 NULL pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 40 0 0 15 11 42.3077 ADAMTS19 0 genome.wustl.edu 37 5 128797351 128797351 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 128797351 128797351 G A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known silent c.630 p.P210 0.000 pfam_Peptidase_M12B_N 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 39 0 0 17 14 45.1613 CHSY3 0 genome.wustl.edu 37 5 129241306 129241306 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 129241306 129241306 G A SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.784 p.D262N 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 103 0 0 88 65 42.4837 IL13 0 genome.wustl.edu 37 5 131993886 131993886 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 131993886 131993886 C T SNP IL13 ENST00000304506 human ensembl 74_37 +1 known missense c.8 p.P3L 0.000 NULL pfam_IL-13,superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,prints_IL-13 - no_errors IL13 HGNC ENSG00000169194 33 0 0 22 13 37.1429 SHROOM1 0 genome.wustl.edu 37 5 132159003 132159003 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 132159003 132159003 C T SNP SHROOM1 ENST00000378679 human ensembl 74_37 -1 known missense c.2165 p.R722H 1.000 pfam_ASD2 pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC ENSG00000164403 19 0 0 39 4 9.30233 PCDHA7 0 genome.wustl.edu 37 5 140215251 140215251 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 140215251 140215251 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1283 p.R428Q 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 135 0 0 132 77 36.8421 PCDH1 0 genome.wustl.edu 37 5 141242842 141242842 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 141242842 141242842 G A SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known silent c.3054 p.S1018 0.993 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 41 0 0 37 18 32.7273 POU4F3 0 genome.wustl.edu 37 5 145719765 145719765 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 145719765 145719765 T C SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known missense c.775 p.Y259H 1.000 superfamily_Homeodomain-like pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 87 0 0 57 43 43 CSF1R 0 genome.wustl.edu 37 5 149447865 149447865 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 149447865 149447865 G T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.1539 p.F513L 0.807 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 56 0 0 48 26 35.1351 PDGFRB 0 genome.wustl.edu 37 5 149513265 149513265 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 149513265 149513265 C T SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.818 p.R273H 0.997 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 177 0 0 99 52 34.4371 SLC6A7 0 genome.wustl.edu 37 5 149576672 149576672 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 149576672 149576672 C T SNP SLC6A7 ENST00000230671 human ensembl 74_37 +1 known silent c.417 p.Y139 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 73 0 0 39 27 40.9091 MYOZ3 0 genome.wustl.edu 37 5 150050052 150050052 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 150050052 150050052 C T SNP MYOZ3 ENST00000297130 human ensembl 74_37 +1 known missense c.68 p.T23M 0.000 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ3 HGNC ENSG00000164591 16 0 0 14 9 39.1304 ITK 0 genome.wustl.edu 37 5 156668718 156668718 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 156668718 156668718 G T SNP ITK ENST00000422843 human ensembl 74_37 +1 known missense c.1048 p.G350W 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 52 0 0 14 17 54.8387 LCP2 0 genome.wustl.edu 37 5 169714973 169714973 + Splice_Site SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 169714973 169714973 C T SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known splice_site c.188+1 e3+1 1.000 - - - no_errors LCP2 HGNC ENSG00000043462 32 0 0 14 10 41.6667 TLX3 0 genome.wustl.edu 37 5 170737354 170737354 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 170737354 170737354 G A SNP TLX3 ENST00000296921 human ensembl 74_37 +1 known missense c.622 p.A208T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors TLX3 HGNC ENSG00000164438 17 0 0 12 6 33.3333 BNIP1 0 genome.wustl.edu 37 5 172590743 172590743 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 172590743 172590743 C T SNP BNIP1 ENST00000231668 human ensembl 74_37 +1 known missense c.635 p.T212M 1.000 pfam_Sec20 pfam_Sec20 - no_errors BNIP1 HGNC ENSG00000113734 47 0 0 31 22 41.5094 UIMC1 0 genome.wustl.edu 37 5 176395772 176395772 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 176395772 176395772 A G SNP UIMC1 ENST00000377219 human ensembl 74_37 -1 known silent c.984 p.P328 0.431 NULL smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif - no_errors UIMC1 HGNC ENSG00000087206 102 0 0 62 4 6.06061 GRK6 0 genome.wustl.edu 37 5 176863243 176863243 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 176863243 176863243 C T SNP GRK6 ENST00000528793 human ensembl 74_37 +1 known silent c.1227 p.S409 0.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK6 HGNC ENSG00000198055 66 0 0 43 36 45.5696 ZNF354A 0 genome.wustl.edu 37 5 178152470 178152470 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 178152470 178152470 G A SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known missense c.163 p.L55F 0.415 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354A HGNC ENSG00000169131 73 0 0 45 35 43.75 ZNF454 0 genome.wustl.edu 37 5 178373922 178373922 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 178373922 178373922 C T SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known missense c.185 p.T62M 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 107 0 0 75 7 8.53659 ITGA1 0 genome.wustl.edu 37 5 52214676 52214676 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 52214676 52214676 A G SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known silent c.2103 p.T701 0.247 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 60 0 0 23 15 39.4737 MARVELD2 0 genome.wustl.edu 37 5 68716104 68716104 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 68716104 68716104 G A SNP MARVELD2 ENST00000325631 human ensembl 74_37 +1 known missense c.892 p.V298I 0.881 pfam_Marvel pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel - no_errors MARVELD2 HGNC ENSG00000152939 91 0 0 47 29 38.1579 VCAN 0 genome.wustl.edu 37 5 82816265 82816265 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 82816265 82816265 G A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.2140 p.G714R 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 50 0 0 23 10 30.303 COX7C 0 genome.wustl.edu 37 5 85914004 85914004 + RNA SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 85914004 85914004 C T SNP COX7C ENST00000510447 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COX7C HGNC ENSG00000127184 17 0 0 17 14 45.1613 NR2F1 0 genome.wustl.edu 37 5 92924138 92924138 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 92924138 92924138 C T SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known silent c.979 p.L327 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 31 0 0 45 24 34.7826 PRDM13 0 genome.wustl.edu 37 6 100054917 100054917 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 100054917 100054917 G A SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known missense c.7 p.G3R 0.979 NULL smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 26 0 0 26 10 27.7778 ENPP1 0 genome.wustl.edu 37 6 132179844 132179844 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 132179844 132179844 T C SNP ENPP1 ENST00000360971 human ensembl 74_37 +1 known missense c.752 p.V251A 0.979 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 26 0 0 21 8 27.5862 TAAR1 0 genome.wustl.edu 37 6 132966154 132966154 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 132966154 132966154 C A SNP TAAR1 ENST00000275216 human ensembl 74_37 -1 known missense c.989 p.R330M 0.013 prints_TAAR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_TAAR1,prints_TAAR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors TAAR1 HGNC ENSG00000146399 33 0 0 16 9 36 HECA 0 genome.wustl.edu 37 6 139488396 139488396 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 139488396 139488396 G A SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.1247 p.G416E 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 67 0 0 39 20 33.8983 TXLNB 0 genome.wustl.edu 37 6 139563885 139563885 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 139563885 139563885 G A SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known silent c.1833 p.S611 0.000 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 96 0 0 75 69 47.9167 GRM1 0 genome.wustl.edu 37 6 146351103 146351103 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 146351103 146351103 C A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.450 p.G150 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 74 0 0 47 26 35.6164 LATS1 0 genome.wustl.edu 37 6 150023031 150023031 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 150023031 150023031 A G SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known silent c.232 p.L78 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 141 0 0 58 43 42.5743 TIAM2 0 genome.wustl.edu 37 6 155451082 155451082 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 155451082 155451082 C T SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.725 p.S242F 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,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 TIAM2 HGNC ENSG00000146426 67 0 0 65 43 39.8148 KIAA0319 0 genome.wustl.edu 37 6 24596335 24596335 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 24596335 24596335 C T SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known silent c.567 p.P189 0.000 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 43 0 0 25 28 52.8302 HIST1H2BO 0 genome.wustl.edu 37 6 27861423 27861423 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 27861423 27861423 C T SNP HIST1H2BO ENST00000303806 human ensembl 74_37 +1 known silent c.183 p.G61 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BO HGNC ENSG00000196331 132 0 0 104 83 44.385 BRD2 0 genome.wustl.edu 37 6 32947706 32947706 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 32947706 32947706 G A SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.2048 p.R683Q 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 41 0 0 26 17 39.5349 CDKN1A 0 genome.wustl.edu 37 6 36652259 36652259 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 36652259 36652259 T C SNP CDKN1A ENST00000448526 human ensembl 74_37 +1 known silent c.483 p.A161 0.072 NULL pfam_CDI - no_errors CDKN1A HGNC ENSG00000124762 32 0 0 23 17 42.5 FOXP4 0 genome.wustl.edu 37 6 41553174 41553174 + Splice_Site SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 41553174 41553174 G A SNP FOXP4 ENST00000373057 human ensembl 74_37 +1 known splice_site c.424-1 e4-1 1.000 - - - no_errors FOXP4 HGNC ENSG00000137166 48 0 0 36 22 37.931 PPP2R5D 0 genome.wustl.edu 37 6 42974387 42974387 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 42974387 42974387 C T SNP PPP2R5D ENST00000485511 human ensembl 74_37 +1 known missense c.292 p.R98W 1.000 pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5D HGNC ENSG00000112640 57 0 0 46 46 50 KLHDC3 0 genome.wustl.edu 37 6 42985381 42985381 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 42985381 42985381 C T SNP KLHDC3 ENST00000326974 human ensembl 74_37 +1 known silent c.279 p.G93 0.003 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 74 0 0 48 17 26.1538 TTBK1 0 genome.wustl.edu 37 6 43252016 43252016 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 43252016 43252016 G A SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.3538 p.A1180T 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK1 HGNC ENSG00000146216 21 0 0 12 11 47.8261 CLIC5 0 genome.wustl.edu 37 6 45922903 45922903 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 45922903 45922903 C T SNP CLIC5 ENST00000185206 human ensembl 74_37 -1 known missense c.619 p.V207M 1.000 superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 51 0 0 23 13 36.1111 MEP1A 0 genome.wustl.edu 37 6 46806746 46806746 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 46806746 46806746 C T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.2114 p.T705M 1.000 pirsf_Pept_M12A_Meprin,pfam_EG-like_dom,pfscan_EG-like_dom pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 138 0 0 132 69 34.3284 MUT 0 genome.wustl.edu 37 6 49426894 49426894 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 49426894 49426894 A G SNP MUT ENST00000274813 human ensembl 74_37 -1 known missense c.286 p.Y96H 1.000 pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 48 0 0 34 30 46.875 RPP40 0 genome.wustl.edu 37 6 4996269 4996269 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 4996269 4996269 C T SNP RPP40 ENST00000380051 human ensembl 74_37 -1 known missense c.809 p.S270N 0.709 pfam_RNase_P_Rpp40 pfam_RNase_P_Rpp40 - no_errors RPP40 HGNC ENSG00000124787 50 0 0 39 3 7.14286 RREB1 0 genome.wustl.edu 37 6 7230385 7230385 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 7230385 7230385 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.2053 p.A685T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 45 0 0 30 28 48.2759 CAGE1 0 genome.wustl.edu 37 6 7365800 7365800 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 7365800 7365800 G T SNP CAGE1 ENST00000338150 human ensembl 74_37 -1 known missense c.2094 p.D698E 0.000 NULL NULL - no_errors CAGE1 HGNC ENSG00000164304 21 0 0 8 8 50 KCNQ5 0 genome.wustl.edu 37 6 73843172 73843172 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 73843172 73843172 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.1306 p.R436C 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 52 0 0 52 27 34.1772 CASP8AP2 0 genome.wustl.edu 37 6 90573828 90573828 + RNA SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 90573828 90573828 G A SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors CASP8AP2 HGNC ENSG00000118412 97 0 0 88 8 8.33333 MANEA 0 genome.wustl.edu 37 6 96034484 96034484 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 96034484 96034484 A G SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.169 p.K57E 0.117 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 73 0 0 34 18 34.6154 MANEA 0 genome.wustl.edu 37 6 96034832 96034832 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 96034832 96034832 A G SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.517 p.M173V 1.000 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 75 0 0 37 43 53.75 MANEA 0 genome.wustl.edu 37 6 96053724 96053724 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 96053724 96053724 T C SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.832 p.W278R 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 56 0 0 42 3 6.66667 UFL1 0 genome.wustl.edu 37 6 96986656 96986656 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 96986656 96986656 C T SNP UFL1 ENST00000369278 human ensembl 74_37 +1 known silent c.1128 p.F376 1.000 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 56 0 0 28 12 30 PNISR 0 genome.wustl.edu 37 6 99848925 99848925 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 99848925 99848925 G A SNP PNISR ENST00000369239 human ensembl 74_37 -1 known nonsense c.1909 p.R637* 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 54 0 0 38 23 37.7049 PNISR 0 genome.wustl.edu 37 6 99857094 99857094 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 99857094 99857094 G A SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.628 p.R210C 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 34 0 0 20 7 25.9259 ENSG00000241357 0 genome.wustl.edu 37 7 100034028 100034028 + RNA SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 100034028 100034028 C T SNP ENSG00000241357 ENST00000492523 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-758P17.2 Clone_based_vega_gene ENSG00000241357 22 0 0 21 7 25 ZAN 0 genome.wustl.edu 37 7 100357453 100357453 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 100357453 100357453 G A SNP ZAN ENST00000546292 human ensembl 74_37 +1 known silent c.3681 p.K1227 0.913 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 25 0 0 14 4 22.2222 CUX1 0 genome.wustl.edu 37 7 101845115 101845115 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 101845115 101845115 G A SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known silent c.2571 p.T857 0.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 38 0 0 29 33 53.2258 RELN 0 genome.wustl.edu 37 7 103368593 103368593 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 103368593 103368593 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.718 p.V240I 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 54 0 0 26 16 38.0952 CDHR3 0 genome.wustl.edu 37 7 105635244 105635244 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 105635244 105635244 C T SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known silent c.561 p.G187 0.819 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 23 0 0 11 4 26.6667 LAMB1 0 genome.wustl.edu 37 7 107615542 107615542 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 107615542 107615542 A G SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known silent c.1371 p.S457 0.935 pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 39 0 0 20 18 47.3684 DOCK4 0 genome.wustl.edu 37 7 111368616 111368616 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 111368616 111368616 T C SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.5642 p.Q1881R 0.002 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 49 0 0 64 40 38.4615 PTPRZ1 0 genome.wustl.edu 37 7 121651137 121651137 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 121651137 121651137 T C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known silent c.2037 p.T679 0.021 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 50 0 0 23 17 42.5 STRIP2 0 genome.wustl.edu 37 7 129096402 129096402 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 129096402 129096402 G A SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known silent c.957 p.P319 0.014 pfam_N1221 pfam_DUF3402,pfam_N1221 - no_errors STRIP2 HGNC ENSG00000128578 58 0 0 67 38 36.1905 C7orf49 0 genome.wustl.edu 37 7 134851386 134851386 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 134851386 134851386 C T SNP C7orf49 ENST00000393114 human ensembl 74_37 -1 known missense c.451 p.V151I 0.996 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 79 0 0 37 27 42.1875 NUP205 0 genome.wustl.edu 37 7 135322803 135322803 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 135322803 135322803 A G SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.5261 p.Q1754R 1.000 NULL pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 77 0 0 43 20 31.746 MIR490 0 genome.wustl.edu 37 7 136587854 136587854 + RNA SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 136587854 136587854 G A SNP MIR490 ENST00000608269 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors hsa-mir-490 miRBase ENSG00000234352 64 0 0 31 17 35.4167 BRAF 0 genome.wustl.edu 37 7 140476719 140476719 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 140476719 140476719 C A SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.1687 p.G563C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 61 0 0 30 17 36.1702 TRPV6 0 genome.wustl.edu 37 7 142571332 142571332 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 142571332 142571332 A C SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known missense c.1657 p.F553V 0.996 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 161 0 0 73 64 46.7153 GSTK1 0 genome.wustl.edu 37 7 142960705 142960705 + RNA SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 142960705 142960705 A G SNP GSTK1 ENST00000494735 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GSTK1 HGNC ENSG00000197448 40 0 0 39 28 41.791 SSPO 0 genome.wustl.edu 37 7 149499038 149499038 + RNA SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 149499038 149499038 G T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SSPO HGNC ENSG00000197558 27 0 0 13 8 38.0952 ZNF862 0 genome.wustl.edu 37 7 149557637 149557637 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 149557637 149557637 G A SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.1388 p.R463H 0.985 smart_Znf_TTF pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 135 0 0 105 17 13.9344 ATP6V0E2 0 genome.wustl.edu 37 7 149575867 149575867 + RNA SNP G G C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 149575867 149575867 G C SNP ATP6V0E2 ENST00000483478 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP6V0E2 HGNC ENSG00000171130 46 0 0 30 27 47.3684 ASIC3 0 genome.wustl.edu 37 7 150749150 150749150 + Splice_Site SNP G G C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 150749150 150749150 G C SNP ASIC3 ENST00000297512 human ensembl 74_37 +1 known splice_site c.1386+1 e8+1 1.000 - - - no_errors ASIC3 HGNC ENSG00000213199 79 0 0 55 38 40.8602 AGAP3 0 genome.wustl.edu 37 7 150820859 150820859 + RNA SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 150820859 150820859 C T SNP AGAP3 ENST00000485904 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AGAP3 HGNC ENSG00000133612 48 0 0 32 14 30.4348 RBM33 0 genome.wustl.edu 37 7 155493520 155493520 + Missense_Mutation SNP A A T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 155493520 155493520 A T SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.621 p.E207D 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 13 0 0 5 6 54.5455 ABCB5 0 genome.wustl.edu 37 7 20682989 20682989 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 20682989 20682989 G A SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative missense c.497 p.R166H 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 58 0 0 29 3 9.375 IQCE 0 genome.wustl.edu 37 7 2645582 2645582 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 2645582 2645582 G A SNP IQCE ENST00000402050 human ensembl 74_37 +1 known missense c.1816 p.V606I 0.049 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 37 0 0 29 24 45.283 CARD11 0 genome.wustl.edu 37 7 2959065 2959065 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 2959065 2959065 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known silent c.2451 p.A817 0.188 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 47 0 0 35 35 50 HERPUD2 0 genome.wustl.edu 37 7 35678044 35678044 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 35678044 35678044 G T SNP HERPUD2 ENST00000311350 human ensembl 74_37 -1 known missense c.533 p.P178H 0.896 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors HERPUD2 HGNC ENSG00000122557 51 0 0 27 9 25 AEBP1 0 genome.wustl.edu 37 7 44144463 44144463 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 44144463 44144463 C T SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known nonsense c.199 p.R67* 0.001 NULL 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 AEBP1 HGNC ENSG00000106624 11 0 0 4 5 55.5556 POLD2 0 genome.wustl.edu 37 7 44157558 44157558 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 44157558 44157558 C T SNP POLD2 ENST00000406581 human ensembl 74_37 -1 known missense c.326 p.R109Q 1.000 NULL pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 75 0 0 54 44 44.898 PKD1L1 0 genome.wustl.edu 37 7 47925507 47925507 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 47925507 47925507 G A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.2982 p.P994 0.000 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 76 0 0 57 41 41.8367 ABCA13 0 genome.wustl.edu 37 7 48563978 48563978 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 48563978 48563978 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.14186 p.R4729H 0.001 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 30 0 0 12 5 29.4118 MMD2 0 genome.wustl.edu 37 7 4947221 4947221 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 4947221 4947221 C T SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.619 p.E207K 0.979 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 56 0 0 46 22 32.3529 IKZF1 0 genome.wustl.edu 37 7 50459497 50459497 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 50459497 50459497 C T SNP IKZF1 ENST00000440768 human ensembl 74_37 +1 known missense c.658 p.R220C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 32 0 0 15 12 44.4444 FIGNL1 0 genome.wustl.edu 37 7 50514212 50514212 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 50514212 50514212 C T SNP FIGNL1 ENST00000356889 human ensembl 74_37 -1 known silent c.774 p.K258 0.724 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 87 0 0 32 20 38.4615 TNRC18 0 genome.wustl.edu 37 7 5347890 5347890 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 5347890 5347890 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.8754 p.S2918 0.994 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 19 0 0 13 6 31.5789 TNRC18 0 genome.wustl.edu 37 7 5348943 5348943 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 5348943 5348943 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.8445 p.G2815 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 33 0 0 24 15 38.4615 PMS2 0 genome.wustl.edu 37 7 6026915 6026915 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 6026915 6026915 G A SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known missense c.1481 p.S494L 0.718 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 85 0 0 56 45 44.5545 AUTS2 0 genome.wustl.edu 37 7 69900851 69900851 + RNA SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 69900851 69900851 A G SNP AUTS2 ENST00000475660 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AUTS2 HGNC ENSG00000158321 34 0 0 22 19 46.3415 CLIP2 0 genome.wustl.edu 37 7 73771801 73771801 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 73771801 73771801 T C SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known silent c.1209 p.H403 0.822 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 19 0 0 20 8 28.5714 RHBDD2 0 genome.wustl.edu 37 7 75511206 75511206 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 75511206 75511206 G A SNP RHBDD2 ENST00000006777 human ensembl 74_37 +1 known missense c.238 p.A80T 0.003 pfam_Peptidase_S54_rhomboid_dom pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD2 HGNC ENSG00000005486 116 0 0 80 58 42.029 PCLO 0 genome.wustl.edu 37 7 82578874 82578874 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 82578874 82578874 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11030 p.R3677H 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 162 0 0 106 49 31.6129 ABCB1 0 genome.wustl.edu 37 7 87214926 87214926 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 87214926 87214926 G T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.188 p.A63D 0.897 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 50 0 0 35 14 28.5714 AKAP9 0 genome.wustl.edu 37 7 91645529 91645529 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 91645529 91645529 C T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known silent c.3735 p.Y1245 0.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 25 0 0 6 10 62.5 PEX1 0 genome.wustl.edu 37 7 92147285 92147285 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 92147285 92147285 G A SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known missense c.544 p.R182C 0.924 NULL pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 49 0 0 31 13 29.5455 SGCE 0 genome.wustl.edu 37 7 94285328 94285328 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 94285328 94285328 G A SNP SGCE ENST00000445866 human ensembl 74_37 -1 known missense c.83 p.A28V 1.000 NULL pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 18 0 0 43 5 10.4167 PPP1R9A 0 genome.wustl.edu 37 7 94540617 94540617 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 94540617 94540617 C T SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.1192 p.H398Y 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 37 0 0 28 3 9.67742 TRRAP 0 genome.wustl.edu 37 7 98556979 98556979 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 98556979 98556979 A G SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.6334 p.T2112A 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 53 0 0 36 21 36.8421 CPSF4 0 genome.wustl.edu 37 7 99051685 99051685 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 99051685 99051685 G A SNP CPSF4 ENST00000292476 human ensembl 74_37 +1 known missense c.667 p.G223R 1.000 superfamily_Znf_CCHC pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors CPSF4 HGNC ENSG00000160917 210 0 0 120 81 40.2985 YWHAZ 0 genome.wustl.edu 37 8 101960825 101960825 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 101960825 101960825 A G SNP YWHAZ ENST00000353245 human ensembl 74_37 -1 known missense c.293 p.L98P 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAZ HGNC ENSG00000164924 204 1 0.487805 212 51 19.3916 FZD6 0 genome.wustl.edu 37 8 104342230 104342230 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 104342230 104342230 G T SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known missense c.1889 p.G630V 0.947 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 48 0 0 82 26 24.0741 RP1L1 0 genome.wustl.edu 37 8 10470587 10470587 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 10470587 10470587 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.1021 p.R341W 0.996 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 105 0 0 271 16 5.57491 DPYS 0 genome.wustl.edu 37 8 105405032 105405032 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 105405032 105405032 G A SNP DPYS ENST00000351513 human ensembl 74_37 -1 known nonsense c.1423 p.R475* 1.000 superfamily_Metal-dep_hydrolase_composite pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 159 0 0 164 121 42.4561 SOX7 0 genome.wustl.edu 37 8 10683722 10683722 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 10683722 10683722 T C SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.334 p.S112G 1.000 superfamily_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 20 0 0 13 9 40.9091 PKHD1L1 0 genome.wustl.edu 37 8 110477051 110477051 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 110477051 110477051 A G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.7990 p.N2664D 1.000 superfamily_Pectin_lyase_fold/virulence pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 74 0 0 93 25 21.1864 CSMD3 0 genome.wustl.edu 37 8 113277738 113277738 + Missense_Mutation SNP T T A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 113277738 113277738 T A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9590 p.Y3197F 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 82 0 0 116 38 24.6753 CSMD3 0 genome.wustl.edu 37 8 113301691 113301691 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 113301691 113301691 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.9051 p.V3017 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 55 0 0 77 28 26.6667 CSMD3 0 genome.wustl.edu 37 8 113694730 113694730 + Missense_Mutation SNP A A T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 113694730 113694730 A T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2618 p.I873N 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 83 0 0 106 17 13.8211 DLC1 0 genome.wustl.edu 37 8 12957761 12957761 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 12957761 12957761 G A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.2085 p.S695 0.116 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 76 0 0 151 40 20.9424 KCNQ3 0 genome.wustl.edu 37 8 133492534 133492534 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 133492534 133492534 C T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.246 p.P82 0.999 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 19 0 0 27 8 22.8571 COL22A1 0 genome.wustl.edu 37 8 139790595 139790595 + Splice_Site SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 139790595 139790595 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known splice_site c.1758+1 e14+1 1.000 - - - no_errors COL22A1 HGNC ENSG00000169436 43 0 0 52 16 23.5294 SLC45A4 0 genome.wustl.edu 37 8 142222373 142222373 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 142222373 142222373 C T SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.2224 p.G742R 0.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 26 0 0 49 11 18.3333 SLC45A4 0 genome.wustl.edu 37 8 142228485 142228485 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 142228485 142228485 C T SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known silent c.1254 p.A418 0.031 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 51 0 0 117 45 27.7778 LY6D 0 genome.wustl.edu 37 8 143866633 143866633 + RNA SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 143866633 143866633 A G SNP LY6D ENST00000518434 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LY6D HGNC ENSG00000167656 23 0 0 38 8 17.3913 LY6E 0 genome.wustl.edu 37 8 144102851 144102851 + Splice_Site SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 144102851 144102851 G A SNP LY6E ENST00000292494 human ensembl 74_37 +1 known splice_site c.172+1 e2+1 0.982 - - - no_errors LY6E HGNC ENSG00000160932 54 0 0 102 23 18.4 RHPN1 0 genome.wustl.edu 37 8 144464012 144464012 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 144464012 144464012 A G SNP RHPN1 ENST00000289013 human ensembl 74_37 +1 known silent c.1671 p.S557 0.005 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 21 0 0 43 12 21.8182 PLEC 0 genome.wustl.edu 37 8 144991489 144991489 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 144991489 144991489 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.12911 p.T4304M 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 69 0 0 135 20 12.9032 PLEC 0 genome.wustl.edu 37 8 144995573 144995573 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 144995573 144995573 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.8827 p.L2943 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 89 0 0 224 16 6.66667 PLEC 0 genome.wustl.edu 37 8 144996166 144996166 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 144996166 144996166 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.8234 p.A2745V 0.838 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 33 0 0 44 13 22.807 PLEC 0 genome.wustl.edu 37 8 144997128 144997128 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 144997128 144997128 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.7380 p.T2460 0.009 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 12 0 0 31 8 20.5128 SPATC1 0 genome.wustl.edu 37 8 145094872 145094872 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 145094872 145094872 A C SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known missense c.274 p.M92L 0.000 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 78 0 0 176 49 21.7778 SLC52A2 0 genome.wustl.edu 37 8 145583901 145583901 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 145583901 145583901 T C SNP SLC52A2 ENST00000329994 human ensembl 74_37 +1 known missense c.749 p.L250P 0.974 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 58 0 0 111 34 23.4483 TONSL 0 genome.wustl.edu 37 8 145657756 145657756 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 145657756 145657756 C A SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.3647 p.G1216V 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 94 0 0 162 55 25.3456 RECQL4 0 genome.wustl.edu 37 8 145742065 145742065 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 145742065 145742065 C T SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known silent c.438 p.G146 0.000 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 31 0 0 32 26 44.8276 LRRC24 0 genome.wustl.edu 37 8 145748716 145748716 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 145748716 145748716 A G SNP LRRC24 ENST00000529415 human ensembl 74_37 -1 known missense c.685 p.S229P 1.000 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC24 HGNC ENSG00000254402 18 0 0 31 14 31.1111 ZNF7 0 genome.wustl.edu 37 8 146066746 146066746 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 146066746 146066746 C T SNP ZNF7 ENST00000325241 human ensembl 74_37 +1 known missense c.254 p.T85M 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF7 HGNC ENSG00000147789 151 0 0 169 50 22.8311 C8orf33 0 genome.wustl.edu 37 8 146278738 146278738 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 146278738 146278738 C A SNP C8orf33 ENST00000331434 human ensembl 74_37 +1 known silent c.459 p.P153 0.947 NULL NULL - no_errors C8orf33 HGNC ENSG00000182307 65 0 0 131 50 27.6243 SLC7A2 0 genome.wustl.edu 37 8 17417858 17417858 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 17417858 17417858 C T SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known silent c.1440 p.Y480 0.816 tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 56 0 0 65 17 20.7317 NAT2 0 genome.wustl.edu 37 8 18257855 18257855 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 18257855 18257855 T C SNP NAT2 ENST00000286479 human ensembl 74_37 +1 known silent c.342 p.I114 0.408 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC ENSG00000156006 91 0 0 120 40 25 NPM2 0 genome.wustl.edu 37 8 21883281 21883281 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 21883281 21883281 A G SNP NPM2 ENST00000397940 human ensembl 74_37 +1 known missense c.268 p.M90V 1.000 superfamily_Nucleoplasmin_core_dom superfamily_Nucleoplasmin_core_dom - no_errors NPM2 HGNC ENSG00000158806 126 0 0 295 79 21.123 TNFRSF10C 0 genome.wustl.edu 37 8 22974326 22974326 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 22974326 22974326 G T SNP TNFRSF10C ENST00000356864 human ensembl 74_37 +1 known missense c.562 p.G188W 0.976 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10C HGNC ENSG00000173535 123 0 0 188 45 19.3133 STC1 0 genome.wustl.edu 37 8 23709860 23709860 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 23709860 23709860 G A SNP STC1 ENST00000290271 human ensembl 74_37 -1 known silent c.156 p.V52 0.994 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC1 HGNC ENSG00000159167 61 0 0 82 23 21.9048 EXTL3 0 genome.wustl.edu 37 8 28574480 28574480 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 28574480 28574480 A G SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.904 p.T302A 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 56 0 0 74 21 22.1053 HMBOX1 0 genome.wustl.edu 37 8 28906577 28906577 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 28906577 28906577 C T SNP HMBOX1 ENST00000523613 human ensembl 74_37 +1 putative silent c.1137 p.C379 0.000 NULL pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 88 0 0 143 39 21.4286 CSMD1 0 genome.wustl.edu 37 8 3141799 3141799 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 3141799 3141799 G T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4023 p.D1341E 0.988 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 28 0 0 46 15 24.5902 NRG1 0 genome.wustl.edu 37 8 32621538 32621538 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 32621538 32621538 C T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.1565 p.A522V 0.973 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 52 0 0 69 21 23.3333 MAK16 0 genome.wustl.edu 37 8 33346315 33346315 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 33346315 33346315 G A SNP MAK16 ENST00000360128 human ensembl 74_37 +1 known missense c.239 p.R80Q 1.000 pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC ENSG00000198042 47 0 0 38 13 25.4902 BAG4 0 genome.wustl.edu 37 8 38034594 38034594 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 38034594 38034594 C T SNP BAG4 ENST00000287322 human ensembl 74_37 +1 known silent c.207 p.G69 0.958 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 18 0 0 27 22 44.898 ADAM9 0 genome.wustl.edu 37 8 38873652 38873652 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 38873652 38873652 C T SNP ADAM9 ENST00000487273 human ensembl 74_37 +1 known missense c.349 p.R117W 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 90 0 0 98 25 20.3252 FBXO25 0 genome.wustl.edu 37 8 413102 413102 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 413102 413102 C T SNP FBXO25 ENST00000276326 human ensembl 74_37 +1 known silent c.939 p.Y313 0.972 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXO25 HGNC ENSG00000147364 99 0 0 122 25 17.0068 KAT6A 0 genome.wustl.edu 37 8 41794882 41794882 + Silent SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 41794882 41794882 T G SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known silent c.3244 p.R1082 0.998 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 72 0 0 94 28 22.9508 AP3M2 0 genome.wustl.edu 37 8 42012282 42012282 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 42012282 42012282 G A SNP AP3M2 ENST00000174653 human ensembl 74_37 +1 known missense c.77 p.R26H 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 75 0 0 64 17 20.9877 SOX17 0 genome.wustl.edu 37 8 55371735 55371735 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 55371735 55371735 G A SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known missense c.425 p.R142H 1.000 NULL pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 18 0 0 36 5 12.1951 NSMAF 0 genome.wustl.edu 37 8 59510450 59510450 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 59510450 59510450 G T SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known missense c.1690 p.L564M 0.948 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 106 0 0 107 28 20.7407 TOX 0 genome.wustl.edu 37 8 59764296 59764296 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 59764296 59764296 T C SNP TOX ENST00000361421 human ensembl 74_37 -1 known silent c.480 p.P160 0.016 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 65 0 0 105 30 22.2222 ERICH1 0 genome.wustl.edu 37 8 623906 623906 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 623906 623906 C T SNP ERICH1 ENST00000262109 human ensembl 74_37 -1 known missense c.446 p.R149Q 0.188 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 59 0 0 108 27 20 SULF1 0 genome.wustl.edu 37 8 70488321 70488321 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 70488321 70488321 G A SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.289 p.G97R 1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 53 0 0 53 12 18.4615 ZFHX4 0 genome.wustl.edu 37 8 77766597 77766597 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 77766597 77766597 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.7440 p.T2480 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 58 0 0 93 33 26.1905 ZNF704 0 genome.wustl.edu 37 8 81553607 81553607 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 81553607 81553607 G A SNP ZNF704 ENST00000327835 human ensembl 74_37 -1 known silent c.1233 p.L411 0.123 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 24 0 0 30 9 23.0769 SGK223 0 genome.wustl.edu 37 8 8233764 8233764 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 8233764 8233764 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.2155 p.R719W 0.081 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 79 0 0 128 39 23.3533 PSKH2 0 genome.wustl.edu 37 8 87060713 87060713 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 87060713 87060713 G A SNP PSKH2 ENST00000276616 human ensembl 74_37 -1 known missense c.1136 p.S379L 0.724 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PSKH2 HGNC ENSG00000147613 91 0 0 140 23 14.1104 PSKH2 0 genome.wustl.edu 37 8 87076599 87076599 + Silent SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 87076599 87076599 G T SNP PSKH2 ENST00000276616 human ensembl 74_37 -1 known silent c.447 p.L149 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_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 PSKH2 HGNC ENSG00000147613 68 0 0 97 27 21.7742 RBM12B 0 genome.wustl.edu 37 8 94745759 94745759 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 94745759 94745759 A G SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known silent c.2880 p.N960 0.988 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 53 0 0 51 16 23.8806 CCDC180 0 genome.wustl.edu 37 9 100070318 100070318 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 100070318 100070318 C T SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known silent c.105 p.P35 0.001 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 54 0 0 48 24 33.3333 CCDC180 0 genome.wustl.edu 37 9 100092974 100092974 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 100092974 100092974 G T SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.2331 p.E777D 0.000 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 28 0 0 24 4 14.2857 TDRD7 0 genome.wustl.edu 37 9 100227190 100227190 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 100227190 100227190 T C SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known silent c.1509 p.S503 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 63 0 0 38 25 39.6825 ZNF462 0 genome.wustl.edu 37 9 109690562 109690562 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 109690562 109690562 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known nonsense c.4369 p.Q1457* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 34 0 0 10 7 41.1765 MUSK 0 genome.wustl.edu 37 9 113547894 113547894 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 113547894 113547894 G A SNP MUSK ENST00000374448 human ensembl 74_37 +1 known silent c.1674 p.P558 0.993 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 175 0 0 87 49 36.0294 FOXD4 0 genome.wustl.edu 37 9 117504 117504 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 117504 117504 T C SNP FOXD4 ENST00000382500 human ensembl 74_37 -1 known missense c.616 p.T206A 0.439 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 218 1 0.456621 275 130 32.0988 TLR4 0 genome.wustl.edu 37 9 120466714 120466714 + RNA SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 120466714 120466714 C A SNP TLR4 ENST00000472304 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TLR4 HGNC ENSG00000136869 29 0 0 23 14 37.8378 OLFML2A 0 genome.wustl.edu 37 9 127570085 127570085 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 127570085 127570085 C A SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known silent c.1194 p.T398 0.929 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 28 0 0 13 17 56.6667 LAMC3 0 genome.wustl.edu 37 9 133928328 133928328 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 133928328 133928328 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.1915 p.V639I 0.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 24 0 0 24 21 46.6667 AK8 0 genome.wustl.edu 37 9 135750575 135750575 + Missense_Mutation SNP C C G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 135750575 135750575 C G SNP AK8 ENST00000298545 human ensembl 74_37 -1 known missense c.96 p.E32D 1.000 superfamily_cAMP_dep_PK_reg_su_I/II_a/b pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 26 0 0 15 11 42.3077 RALGDS 0 genome.wustl.edu 37 9 136037753 136037753 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 136037753 136037753 G A SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known missense c.47 p.A16V 0.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 14 0 0 9 5 35.7143 ADAMTS13 0 genome.wustl.edu 37 9 136279675 136279675 + RNA SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 136279675 136279675 A G SNP ADAMTS13 ENST00000485925 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors ADAMTS13 HGNC ENSG00000160323 29 0 0 17 13 43.3333 SNAPC4 0 genome.wustl.edu 37 9 139272401 139272401 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 139272401 139272401 C T SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.3878 p.R1293H 0.001 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 21 0 0 23 13 36.1111 NOTCH1 0 genome.wustl.edu 37 9 139418408 139418408 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 139418408 139418408 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.164 p.P55L 0.997 smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 10 0 0 4 3 42.8571 ABCA2 0 genome.wustl.edu 37 9 139908775 139908775 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 139908775 139908775 C T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.4085 p.R1362Q 0.014 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 17 0 0 10 4 28.5714 ENTPD2 0 genome.wustl.edu 37 9 139943197 139943197 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 139943197 139943197 A G SNP ENTPD2 ENST00000355097 human ensembl 74_37 -1 known missense c.1400 p.L467P 0.000 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 16 0 0 5 7 58.3333 TPRN 0 genome.wustl.edu 37 9 140086686 140086686 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 140086686 140086686 A G SNP TPRN ENST00000321773 human ensembl 74_37 -1 known missense c.1915 p.W639R 0.478 NULL NULL - no_errors TPRN HGNC ENSG00000176058 75 0 0 67 31 31.6327 NOXA1 0 genome.wustl.edu 37 9 140325259 140325259 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 140325259 140325259 C T SNP NOXA1 ENST00000341349 human ensembl 74_37 +1 known silent c.636 p.D212 0.000 NULL pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_TPR_repeat,smart_OPR_PB1,smart_SH3_domain,pfscan_SH3_domain,pfscan_TPR-contain_dom - no_errors NOXA1 HGNC ENSG00000188747 20 0 0 19 4 17.3913 PLIN2 0 genome.wustl.edu 37 9 19116373 19116373 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 19116373 19116373 G A SNP PLIN2 ENST00000276914 human ensembl 74_37 -1 known missense c.1187 p.T396M 1.000 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN2 HGNC ENSG00000147872 65 0 0 28 28 50 TEK 0 genome.wustl.edu 37 9 27228229 27228229 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 27228229 27228229 C T SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.3226 p.R1076W 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 84 0 0 55 29 34.5238 NOL6 0 genome.wustl.edu 37 9 33465880 33465880 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 33465880 33465880 G A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.2380 p.R794W 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 46 0 0 25 16 39.0244 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 36 0 0 11 4 26.6667 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 48 0 0 16 4 20 CNTFR 0 genome.wustl.edu 37 9 34552676 34552676 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 34552676 34552676 A G SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known silent c.945 p.A315 0.980 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 30 0 0 33 7 17.5 ARID3C 0 genome.wustl.edu 37 9 34623868 34623868 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 34623868 34623868 G A SNP ARID3C ENST00000378909 human ensembl 74_37 -1 known missense c.568 p.R190C 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3C HGNC ENSG00000205143 11 0 0 10 6 37.5 UNC13B 0 genome.wustl.edu 37 9 35399003 35399003 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 35399003 35399003 C T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.3799 p.R1267W 1.000 pfam_Munc13_subgr_dom-2 pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 56 0 0 22 28 56 TESK1 0 genome.wustl.edu 37 9 35605979 35605979 + Splice_Site SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 35605979 35605979 A G SNP TESK1 ENST00000336395 human ensembl 74_37 +1 known splice_site c.220-2 e2-2 1.000 - - - no_errors TESK1 HGNC ENSG00000107140 44 0 0 28 23 45.098 SPAG8 0 genome.wustl.edu 37 9 35809872 35809872 + RNA SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 35809872 35809872 C T SNP SPAG8 ENST00000479751 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SPAG8 HGNC ENSG00000137098 102 0 0 70 42 37.5 RECK 0 genome.wustl.edu 37 9 36118778 36118778 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 36118778 36118778 G A SNP RECK ENST00000377966 human ensembl 74_37 +1 known missense c.2278 p.V760I 0.423 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 48 0 0 26 16 38.0952 ZBTB5 0 genome.wustl.edu 37 9 37440993 37440993 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 37440993 37440993 C A SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known missense c.1556 p.R519M 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 30 0 0 28 15 34.8837 SPATA31A6 0 genome.wustl.edu 37 9 43626997 43626997 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 43626997 43626997 C T SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1690 p.V564I 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 189 0 0 56 51 47.6636 PPAPDC2 0 genome.wustl.edu 37 9 4662738 4662738 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 4662738 4662738 G A SNP PPAPDC2 ENST00000381883 human ensembl 74_37 +1 known silent c.363 p.A121 0.715 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC2 HGNC ENSG00000205808 32 0 0 36 15 29.4118 KIAA2026 0 genome.wustl.edu 37 9 5920290 5920290 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 5920290 5920290 T G SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.5706 p.Q1902H 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 136 0 0 72 58 44.6154 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 42 0 0 67 4 5.6338 DAPK1 0 genome.wustl.edu 37 9 90254270 90254270 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 90254270 90254270 C A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.425 p.P142H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 72 0 0 31 16 34.0426 ARMCX1 0 genome.wustl.edu 37 X 100808097 100808097 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 100808097 100808097 G A SNP ARMCX1 ENST00000372829 human ensembl 74_37 +1 known missense c.184 p.A62T 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 35 0 0 31 10 24.3902 BEX2 0 genome.wustl.edu 37 X 102564886 102564886 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 102564886 102564886 G A SNP BEX2 ENST00000536889 human ensembl 74_37 -1 known nonsense c.115 p.R39* 0.135 NULL pfam_TF_A-like/BEX-like - no_errors BEX2 HGNC ENSG00000133134 59 0 0 29 29 50 COL4A6 0 genome.wustl.edu 37 X 107406166 107406166 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 107406166 107406166 C T SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.4175 p.G1392D 0.998 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 207 0 0 151 95 38.6179 CHRDL1 0 genome.wustl.edu 37 X 109937511 109937511 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 109937511 109937511 C T SNP CHRDL1 ENST00000372042 human ensembl 74_37 -1 known missense c.658 p.A220T 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 104 0 0 82 44 34.9206 AMOT 0 genome.wustl.edu 37 X 112033859 112033859 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 112033859 112033859 T G SNP AMOT ENST00000371959 human ensembl 74_37 -1 known missense c.2078 p.H693P 1.000 pfam_Angiomotin_C,prints_Angiomotin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 258 0 0 149 130 46.595 DOCK11 0 genome.wustl.edu 37 X 117764371 117764371 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 117764371 117764371 A G SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known silent c.3804 p.V1268 0.768 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 187 0 0 90 66 42.3077 LONRF3 0 genome.wustl.edu 37 X 118108785 118108785 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 118108785 118108785 T C SNP LONRF3 ENST00000371628 human ensembl 74_37 +1 known silent c.42 p.A14 0.031 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF3 HGNC ENSG00000175556 16 0 0 28 4 12.5 CXorf56 0 genome.wustl.edu 37 X 118676632 118676632 + RNA SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 118676632 118676632 C T SNP CXorf56 ENST00000469448 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CXorf56 HGNC ENSG00000018610 52 0 0 30 11 26.8293 SLC25A14 0 genome.wustl.edu 37 X 129505599 129505599 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 129505599 129505599 T C SNP SLC25A14 ENST00000339231 human ensembl 74_37 +1 known missense c.1001 p.L334P 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A14 HGNC ENSG00000102078 110 0 0 63 42 40 ZNF75D 0 genome.wustl.edu 37 X 134425380 134425380 + RNA SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 134425380 134425380 C T SNP ZNF75D ENST00000469456 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF75D HGNC ENSG00000186376 35 0 0 21 12 36.3636 SAGE1 0 genome.wustl.edu 37 X 134995056 134995056 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 134995056 134995056 A G SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known silent c.2715 p.*905 0.046 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 17 0 0 15 5 25 CSF2RA 0 genome.wustl.edu 37 X 1409308 1409308 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 1409308 1409308 A G SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known silent c.552 p.S184 0.001 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 209 0 0 102 70 40.6977 CXorf40B 0 genome.wustl.edu 37 X 149102068 149102068 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 149102068 149102068 G A SNP CXorf40B ENST00000355203 human ensembl 74_37 -1 known missense c.25 p.R9W 1.000 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40B HGNC ENSG00000197021 73 0 0 49 24 32.8767 VMA21 0 genome.wustl.edu 37 X 150573447 150573447 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 150573447 150573447 G A SNP VMA21 ENST00000370361 human ensembl 74_37 +1 known missense c.388 p.A130T 1.000 pfam_VMA21-like_domain pfam_VMA21-like_domain - no_errors VMA21 HGNC ENSG00000160131 85 0 0 54 39 41.9355 HCFC1 0 genome.wustl.edu 37 X 153219914 153219914 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 153219914 153219914 G A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known silent c.3936 p.S1312 0.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 204 0 0 170 127 42.7609 FLNA 0 genome.wustl.edu 37 X 153594462 153594462 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 153594462 153594462 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.1359 p.V453 0.367 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 60 0 0 56 44 44 PLXNA3 0 genome.wustl.edu 37 X 153689684 153689684 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 153689684 153689684 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known silent c.840 p.I280 0.864 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,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 PLXNA3 HGNC ENSG00000130827 116 0 0 105 61 36.747 PHEX 0 genome.wustl.edu 37 X 22095682 22095682 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 22095682 22095682 C T SNP PHEX ENST00000379374 human ensembl 74_37 +1 known silent c.525 p.G175 0.755 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 214 0 0 140 98 41.1765 PHEX 0 genome.wustl.edu 37 X 22129611 22129611 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 22129611 22129611 G T SNP PHEX ENST00000379374 human ensembl 74_37 +1 known missense c.1106 p.R369I 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 200 0 0 87 67 43.5065 PTCHD1 0 genome.wustl.edu 37 X 23411237 23411237 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 23411237 23411237 C T SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known silent c.1602 p.T534 0.950 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 102 0 0 80 48 37.5 ZBED1 0 genome.wustl.edu 37 X 2406990 2406990 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 2406990 2406990 A G SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.1771 p.W591R 1.000 pfam_HATC_dom_C,superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 120 0 0 112 74 39.7849 ZBED1 0 genome.wustl.edu 37 X 2408297 2408297 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 2408297 2408297 G A SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.464 p.T155M 0.500 NULL pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 98 0 0 104 81 43.7838 MAGEB6 0 genome.wustl.edu 37 X 26212996 26212996 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 26212996 26212996 C T SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.1033 p.R345W 0.004 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 145 0 0 87 54 38.2979 MED14 0 genome.wustl.edu 37 X 40542144 40542144 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 40542144 40542144 A G SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.2162 p.V721A 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 102 0 0 44 22 33.3333 NYX 0 genome.wustl.edu 37 X 41333037 41333037 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 41333037 41333037 C T SNP NYX ENST00000342595 human ensembl 74_37 +1 known missense c.331 p.R111C 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC ENSG00000188937 13 0 0 14 11 44 EFHC2 0 genome.wustl.edu 37 X 44035573 44035573 + Silent SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 44035573 44035573 A C SNP EFHC2 ENST00000420999 human ensembl 74_37 -1 known silent c.2007 p.P669 0.202 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC2 HGNC ENSG00000183690 13 0 0 3 5 62.5 CXorf36 0 genome.wustl.edu 37 X 45051247 45051247 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 45051247 45051247 G A SNP CXorf36 ENST00000398000 human ensembl 74_37 -1 known silent c.247 p.L83 0.997 NULL NULL - no_errors CXorf36 HGNC ENSG00000147113 30 0 0 14 3 17.6471 HDAC6 0 genome.wustl.edu 37 X 48673431 48673431 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 48673431 48673431 A G SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known silent c.1164 p.A388 0.344 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 15 0 0 7 7 50 KCND1 0 genome.wustl.edu 37 X 48826286 48826286 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 48826286 48826286 G A SNP KCND1 ENST00000218176 human ensembl 74_37 -1 known silent c.393 p.C131 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 24 0 0 13 12 48 FOXP3 0 genome.wustl.edu 37 X 49107881 49107881 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 49107881 49107881 C T SNP FOXP3 ENST00000376207 human ensembl 74_37 -1 known missense c.1210 p.A404T 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP3 HGNC ENSG00000049768 29 0 0 22 10 31.25 SMC1A 0 genome.wustl.edu 37 X 53410093 53410093 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 53410093 53410093 G A SNP SMC1A ENST00000322213 human ensembl 74_37 -1 known missense c.3055 p.R1019C 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 19 0 0 5 8 61.5385 ITIH6 0 genome.wustl.edu 37 X 54776525 54776525 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 54776525 54776525 C T SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.3745 p.A1249T 0.010 pfam_ITI_HC_C pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 29 0 0 18 14 43.75 ZXDA 0 genome.wustl.edu 37 X 57936383 57936383 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 57936383 57936383 C T SNP ZXDA ENST00000358697 human ensembl 74_37 -1 known missense c.472 p.A158T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 9 0 0 12 7 36.8421 AR 0 genome.wustl.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 66765161 66765161 A T SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.173 p.Q58L 0.920 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 31 0 0 28 12 30 STARD8 0 genome.wustl.edu 37 X 67940212 67940212 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 67940212 67940212 C T SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.1996 p.P666S 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 23 0 0 15 14 48.2759 DGAT2L6 0 genome.wustl.edu 37 X 69420151 69420151 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 69420151 69420151 C T SNP DGAT2L6 ENST00000333026 human ensembl 74_37 +1 known missense c.314 p.A105V 0.881 pfam_DAGAT pfam_DAGAT - no_errors DGAT2L6 HGNC ENSG00000184210 62 0 0 30 20 40 TGIF2LX 0 genome.wustl.edu 37 X 89177504 89177504 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 89177504 89177504 G A SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known silent c.420 p.A140 0.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 75 0 0 104 12 10.3448 SYTL4 0 genome.wustl.edu 37 X 99936233 99936233 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 99936233 99936233 G A SNP SYTL4 ENST00000454200 human ensembl 74_37 -1 known missense c.1555 p.R519W 0.997 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 46 0 0 19 8 29.6296 ENSG00000269175 0 genome.wustl.edu 37 1 101456193 101456193 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 101456193 101456193 A - DEL ENSG00000269175 ENST00000593496 human ensembl 74_37 +1 known frame_shift_del c.187 p.R66fs 0.002 NULL NULL - no_errors AC093157.1 Clone_based_ensembl_gene ENSG00000269175 39 0 0 23 14 37.8378 KCNC4 0 genome.wustl.edu 37 1 110754518 110754519 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 110754518 110754519 - G INS KCNC4 ENST00000369787 human ensembl 74_37 +1 known frame_shift_ins c.397_398 p.I135fs 1.000:1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 38 0 0 55 22 28.5714 MAGI3 0 genome.wustl.edu 37 1 114185046 114185046 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 114185046 114185046 A - DEL MAGI3 ENST00000369611 human ensembl 74_37 +1 known frame_shift_del c.1874 p.N626fs 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 74 0 0 24 10 29.4118 SYCP1 0 genome.wustl.edu 37 1 115537601 115537601 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 115537601 115537601 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.2892 p.K967fs 1.000 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 47 0 0 32 12 27.2727 BCL9 0 genome.wustl.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 147091501 147091501 C - DEL BCL9 ENST00000234739 human ensembl 74_37 +1 known frame_shift_del c.1540 p.P516fs 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 133 0 0 110 54 32.9268 MTMR11 0 genome.wustl.edu 37 1 149900986 149900989 + RNA DEL AAAA AAAA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 149900986 149900989 AAAA - DEL MTMR11 ENST00000466496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002:0.003:0.001 - - - no_errors MTMR11 HGNC ENSG00000014914 54 0 0 33 13 28.2609 RPRD2 0 genome.wustl.edu 37 1 150418791 150418791 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 150418791 150418791 A - DEL RPRD2 ENST00000369068 human ensembl 74_37 +1 known frame_shift_del c.784 p.N263fs 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 48 0 0 20 15 42.8571 HORMAD1 0 genome.wustl.edu 37 1 150686529 150686529 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 150686529 150686529 A - DEL HORMAD1 ENST00000476530 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors HORMAD1 HGNC ENSG00000143452 59 0 0 19 10 34.4828 S100A4 0 genome.wustl.edu 37 1 153516163 153516163 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 153516163 153516163 A - DEL S100A4 ENST00000468373 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors S100A4 HGNC ENSG00000196154 104 1 0.952381 74 46 38.3333 RHBG 0 genome.wustl.edu 37 1 156354347 156354348 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 156354347 156354348 - C INS RHBG ENST00000400992 human ensembl 74_37 +1 known frame_shift_ins c.1168_1169 p.R393fs 0.006:0.723 superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 60 0 0 75 24 24.2424 IGSF9 0 genome.wustl.edu 37 1 159900598 159900599 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 159900598 159900599 - C INS IGSF9 ENST00000368094 human ensembl 74_37 -1 known frame_shift_ins c.1697_1696 p.A566fs 0.926:0.921 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 33 0 0 19 14 42.4242 IGSF8 0 genome.wustl.edu 37 1 160063813 160063814 + Frame_Shift_Del DEL GT GT - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 160063813 160063814 GT - DEL IGSF8 ENST00000314485 human ensembl 74_37 -1 known frame_shift_del c.591_590 p.H197fs 1.000:1.000 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF8 HGNC ENSG00000162729 67 0 0 67 23 25.5556 DEDD 0 genome.wustl.edu 37 1 161091815 161091818 + RNA DEL AAAA AAAA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 161091815 161091818 AAAA - DEL DEDD ENST00000486041 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000:1.000 - - - no_errors DEDD HGNC ENSG00000158796 49 0 0 19 14 42.4242 FCRLA 0 genome.wustl.edu 37 1 161680414 161680414 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 161680414 161680414 A - DEL FCRLA ENST00000470841 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FCRLA HGNC ENSG00000132185 8 0 0 0 6 100 C1orf112 0 genome.wustl.edu 37 1 169822808 169822809 + RNA INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 169822808 169822809 - A INS C1orf112 ENST00000459772 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors C1orf112 HGNC ENSG00000000460 112 0 0 65 27 29.3478 GORAB 0 genome.wustl.edu 37 1 170508756 170508756 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 170508756 170508756 T - DEL GORAB ENST00000465717 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GORAB HGNC ENSG00000120370 31 0 0 14 11 44 PAPPA2 0 genome.wustl.edu 37 1 176762724 176762724 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 176762724 176762724 C - DEL PAPPA2 ENST00000367662 human ensembl 74_37 +1 known frame_shift_del c.5049 p.S1686fs 0.506 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 88 0 0 30 18 37.5 CACNA1E 0 genome.wustl.edu 37 1 181767673 181767673 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 181767673 181767673 C - DEL CACNA1E ENST00000367573 human ensembl 74_37 +1 known frame_shift_del c.6645 p.Q2217fs 0.001 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 40 0 0 46 13 22.0339 TPR 0 genome.wustl.edu 37 1 186291529 186291530 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 186291529 186291530 - A INS TPR ENST00000367478 human ensembl 74_37 -1 known frame_shift_ins c.6382_6381 p.D2127fs 1.000:1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 28 0 0 18 5 21.7391 LGR6 0 genome.wustl.edu 37 1 202287206 202287206 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 202287206 202287206 T - DEL LGR6 ENST00000367278 human ensembl 74_37 +1 known frame_shift_del c.1775 p.V592fs 0.003 pfam_GPCR_Rhodpsn pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 66 0 0 91 40 30.5344 PPP1R12B 0 genome.wustl.edu 37 1 202407190 202407190 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 202407190 202407190 T - DEL PPP1R12B ENST00000480184 human ensembl 74_37 +1 novel frame_shift_del c.1496 p.F502fs 0.041 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R12B HGNC ENSG00000077157 28 0 0 14 11 44 CR2 0 genome.wustl.edu 37 1 207644227 207644227 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 207644227 207644227 G - DEL CR2 ENST00000367057 human ensembl 74_37 +1 known frame_shift_del c.1368 p.V458fs 0.024 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 58 0 0 30 15 33.3333 PTPN14 0 genome.wustl.edu 37 1 214705526 214705527 + RNA INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 214705526 214705527 - C INS PTPN14 ENST00000491277 human ensembl 74_37 -1 putative rna NULL NULL 0.021:0.023 - - - no_errors PTPN14 HGNC ENSG00000152104 24 0 0 19 8 29.6296 KCTD3 0 genome.wustl.edu 37 1 215747171 215747171 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 215747171 215747171 T - DEL KCTD3 ENST00000259154 human ensembl 74_37 +1 known frame_shift_del c.126 p.S45fs 0.199 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 99 0 0 43 20 31.746 HSPG2 0 genome.wustl.edu 37 1 22191465 22191467 + In_Frame_Del DEL GGA GGA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 22191465 22191467 GGA - DEL HSPG2 ENST00000374695 human ensembl 74_37 -1 known in_frame_del c.4497_4495 p.S1499in_frame_del 0.017:0.995:1.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 10 0 0 11 5 31.25 GUK1 0 genome.wustl.edu 37 1 228335304 228335304 + RNA DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 228335304 228335304 C - DEL GUK1 ENST00000477206 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GUK1 HGNC ENSG00000143774 90 0 0 84 34 28.8136 EXOC8 0 genome.wustl.edu 37 1 231471450 231471450 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 231471450 231471450 A - DEL EXOC8 ENST00000360394 human ensembl 74_37 -1 known frame_shift_del c.2042 p.L681fs 0.999 NULL superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 121 0 0 72 40 35.7143 PCNXL2 0 genome.wustl.edu 37 1 233313614 233313614 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 233313614 233313614 T - DEL PCNXL2 ENST00000258229 human ensembl 74_37 -1 known frame_shift_del c.3207 p.K1069fs 0.183 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 37 0 0 18 6 25 FMN2 0 genome.wustl.edu 37 1 240256024 240256026 + In_Frame_Del DEL GCA GCA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 240256024 240256026 GCA - DEL FMN2 ENST00000319653 human ensembl 74_37 +1 known in_frame_del c.615_617 p.Q209in_frame_del 0.989:1.000:1.000 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 26 0 0 30 10 25 FMN2 0 genome.wustl.edu 37 1 240256111 240256112 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 240256111 240256112 - C INS FMN2 ENST00000319653 human ensembl 74_37 +1 known frame_shift_ins c.702_703 p.T236fs 0.000:0.000 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 12 0 0 7 3 30 FMN2 0 genome.wustl.edu 37 1 240371335 240371335 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 240371335 240371335 C - DEL FMN2 ENST00000319653 human ensembl 74_37 +1 known frame_shift_del c.3223 p.P1076fs 0.593 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 25 0 0 19 2 9.52381 NLRP3 0 genome.wustl.edu 37 1 247588106 247588106 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 247588106 247588106 G - DEL NLRP3 ENST00000336119 human ensembl 74_37 +1 known frame_shift_del c.1361 p.G455fs 0.001 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 37 0 0 37 15 28.8462 TINAGL1 0 genome.wustl.edu 37 1 32051207 32051208 + RNA INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 32051207 32051208 - C INS TINAGL1 ENST00000463112 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TINAGL1 HGNC ENSG00000142910 23 0 0 14 11 44 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 16 0 0 9 9 50 ZMYM6 0 genome.wustl.edu 37 1 35484912 35484912 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 35484912 35484912 A - DEL ZMYM6 ENST00000317538 human ensembl 74_37 -1 novel frame_shift_del c.470 p.L157fs 0.001 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 61 0 0 23 14 37.8378 UTP11L 0 genome.wustl.edu 37 1 38483297 38483297 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 38483297 38483297 T - DEL UTP11L ENST00000488453 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors UTP11L HGNC ENSG00000183520 17 0 0 13 9 40.9091 HIVEP3 0 genome.wustl.edu 37 1 42048716 42048716 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 42048716 42048716 G - DEL HIVEP3 ENST00000247584 human ensembl 74_37 -1 known frame_shift_del c.1753 p.R585fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 62 0 0 59 33 35.8696 CLDN19 0 genome.wustl.edu 37 1 43204235 43204236 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 43204235 43204236 - C INS CLDN19 ENST00000296387 human ensembl 74_37 -1 known frame_shift_ins c.245_244 p.A82fs 1.000:1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN19 HGNC ENSG00000164007 29 0 0 22 21 48.8372 B4GALT2 0 genome.wustl.edu 37 1 44447007 44447012 + In_Frame_Del DEL AGCAGC AGCAGC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AGCAGC AGCAGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 44447007 44447012 AGCAGC - DEL B4GALT2 ENST00000309519 human ensembl 74_37 +1 known in_frame_del c.262_267 p.SS91in_frame_del 0.928:0.906:0.885:0.869:0.873:0.882 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT2 HGNC ENSG00000117411 49 0 0 56 20 26.3158 PTCH2 0 genome.wustl.edu 37 1 45288153 45288154 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 45288153 45288154 - G INS PTCH2 ENST00000372192 human ensembl 74_37 -1 known frame_shift_ins c.3546_3545 p.W1183fs 0.075:0.078 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 56 0 0 48 41 46.0674 LRRC41 0 genome.wustl.edu 37 1 46726877 46726877 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 46726877 46726877 T - DEL LRRC41 ENST00000496156 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 25 0 0 16 6 27.2727 OSBPL9 0 genome.wustl.edu 37 1 52246930 52246930 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 52246930 52246930 A - DEL OSBPL9 ENST00000371710 human ensembl 74_37 +1 known frame_shift_del c.1405 p.K470fs 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 31 0 0 13 8 38.0952 NRD1 0 genome.wustl.edu 37 1 52305912 52305912 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 52305912 52305912 T - DEL NRD1 ENST00000354831 human ensembl 74_37 -1 known frame_shift_del c.616 p.T206fs 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 46 0 0 34 13 27.6596 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 44 0 0 18 13 41.9355 ZRANB2 0 genome.wustl.edu 37 1 71535065 71535065 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 71535065 71535065 T - DEL ZRANB2 ENST00000487510 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 38 0 0 14 18 56.25 LHX8 0 genome.wustl.edu 37 1 75602895 75602896 + Frame_Shift_Del DEL GT GT - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 75602895 75602896 GT - DEL LHX8 ENST00000294638 human ensembl 74_37 +1 known frame_shift_del c.216_217 p.C75fs 1.000:1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX8 HGNC ENSG00000162624 22 0 0 21 14 40 CCDC18 0 genome.wustl.edu 37 1 93667515 93667516 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 1 93667515 93667516 - A INS CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_ins c.1119_1120 p.V376fs 1.000:1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 40 0 0 19 2 9.52381 SH3PXD2A 0 genome.wustl.edu 37 10 105484098 105484098 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 105484098 105484098 G - DEL SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known frame_shift_del c.328 p.H110fs 0.989 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 33 0 0 24 9 27.2727 COL17A1 0 genome.wustl.edu 37 10 105819448 105819448 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 105819448 105819448 T - DEL COL17A1 ENST00000353479 human ensembl 74_37 -1 known frame_shift_del c.1170 p.E391fs 0.999 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 70 0 0 70 14 16.6667 XPNPEP1 0 genome.wustl.edu 37 10 111651337 111651337 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 111651337 111651337 T - DEL XPNPEP1 ENST00000475123 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors XPNPEP1 HGNC ENSG00000108039 11 0 0 6 10 62.5 PWWP2B 0 genome.wustl.edu 37 10 134218255 134218255 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 134218255 134218255 C - DEL PWWP2B ENST00000305233 human ensembl 74_37 +1 known frame_shift_del c.251 p.P86fs 0.183 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 76 0 0 106 34 24.2857 KIAA1217 0 genome.wustl.edu 37 10 24784015 24784017 + RNA DEL AAA AAA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 24784015 24784017 AAA - DEL KIAA1217 ENST00000460373 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.003:0.002 - - - no_errors KIAA1217 HGNC ENSG00000120549 32 0 0 17 14 45.1613 PTCHD3 0 genome.wustl.edu 37 10 27687763 27687763 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 27687763 27687763 A - DEL PTCHD3 ENST00000438700 human ensembl 74_37 -1 known frame_shift_del c.1764 p.F588fs 0.992 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 90 0 0 45 7 13.4615 KIF5B 0 genome.wustl.edu 37 10 32307245 32307245 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 32307245 32307245 T - DEL KIF5B ENST00000302418 human ensembl 74_37 -1 known frame_shift_del c.2438 p.K813fs 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 93 0 0 96 16 14.2857 CREM 0 genome.wustl.edu 37 10 35456559 35456559 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 35456559 35456559 T - DEL CREM ENST00000497686 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CREM HGNC ENSG00000095794 32 0 0 20 11 35.4839 ENSG00000234864 0 genome.wustl.edu 37 10 43199666 43199667 + RNA INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 43199666 43199667 - A INS ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.021:0.000 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 56 0 0 55 10 15.3846 ENSG00000235939 0 genome.wustl.edu 37 10 50680934 50680934 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 50680934 50680934 A - DEL ENSG00000235939 ENST00000423283 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-123B3.2 Clone_based_vega_gene ENSG00000235939 27 0 0 28 5 15.1515 NET1 0 genome.wustl.edu 37 10 5495005 5495005 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 5495005 5495005 T - DEL NET1 ENST00000465087 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NET1 HGNC ENSG00000173848 20 0 0 10 3 23.0769 TFAM 0 genome.wustl.edu 37 10 60148570 60148571 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 60148570 60148571 AA - DEL TFAM ENST00000487519 human ensembl 74_37 +1 known frame_shift_del c.432_433 p.K147fs 0.006:0.936 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TFAM HGNC ENSG00000108064 84 0 0 58 9 13.4328 HERC4 0 genome.wustl.edu 37 10 69716603 69716604 + RNA DEL AA AA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 69716603 69716604 AA - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 44 0 0 21 10 32.2581 DDX21 0 genome.wustl.edu 37 10 70733354 70733354 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 70733354 70733354 G - DEL DDX21 ENST00000354185 human ensembl 74_37 +1 known frame_shift_del c.1602 p.V536fs 0.001 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC ENSG00000165732 62 0 0 69 23 25 SEC24C 0 genome.wustl.edu 37 10 75525559 75525560 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 75525559 75525560 - C INS SEC24C ENST00000339365 human ensembl 74_37 +1 known frame_shift_ins c.1368_1369 p.Q458fs 1.000:1.000 pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 161 0 0 119 36 23.2258 ZNF518A 0 genome.wustl.edu 37 10 97916130 97916130 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 10 97916130 97916130 A - DEL ZNF518A ENST00000478086 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF518A HGNC ENSG00000177853 48 0 0 38 10 20.8333 CASP5 0 genome.wustl.edu 37 11 104874011 104874011 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 104874011 104874011 T - DEL CASP5 ENST00000393141 human ensembl 74_37 -1 known frame_shift_del c.572 p.N191fs 0.006 pirsf_Caspase_IL-1_beta pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 107 0 0 56 35 38.4615 DLAT 0 genome.wustl.edu 37 11 111896977 111896977 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 111896977 111896977 A - DEL DLAT ENST00000280346 human ensembl 74_37 +1 known frame_shift_del c.335 p.E115fs 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 21 0 0 15 4 21.0526 DLAT 0 genome.wustl.edu 37 11 111904183 111904183 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 111904183 111904183 A - DEL DLAT ENST00000280346 human ensembl 74_37 +1 known frame_shift_del c.716 p.V242fs 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_LAT1 pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 31 0 0 10 6 37.5 C11orf57 0 genome.wustl.edu 37 11 111953289 111953289 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 111953289 111953289 A - DEL C11orf57 ENST00000393047 human ensembl 74_37 +1 known frame_shift_del c.475 p.K161fs 1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 38 0 0 19 20 51.2821 REXO2 0 genome.wustl.edu 37 11 114320750 114320750 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 114320750 114320750 T - DEL REXO2 ENST00000544507 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors REXO2 HGNC ENSG00000076043 73 0 0 50 25 33.3333 C1QTNF5 0 genome.wustl.edu 37 11 119210190 119210190 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 119210190 119210190 C - DEL C1QTNF5 ENST00000445041 human ensembl 74_37 -1 known frame_shift_del c.583 p.A195fs 0.976 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF5 HGNC ENSG00000223953 101 1 0.980392 63 40 38.835 SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 126137087 126137087 T - DEL SRPR ENST00000332118 human ensembl 74_37 -1 known frame_shift_del c.509 p.K170fs 0.991 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 246 1 0.404858 104 55 34.5912 ADAMTS8 0 genome.wustl.edu 37 11 130278693 130278693 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 130278693 130278693 C - DEL ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known frame_shift_del c.1893 p.R632fs 0.920 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 126 0 0 105 59 35.9756 CCDC73 0 genome.wustl.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 32635951 32635951 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1913 p.N638fs 0.024 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 34 0 0 13 10 43.4783 GYLTL1B 0 genome.wustl.edu 37 11 45948373 45948373 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 45948373 45948373 C - DEL GYLTL1B ENST00000325468 human ensembl 74_37 +1 known frame_shift_del c.1276 p.R428fs 0.023 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 54 0 0 77 8 9.41176 ACP2 0 genome.wustl.edu 37 11 47266285 47266285 + Splice_Site DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 47266285 47266285 C - DEL ACP2 ENST00000256997 human ensembl 74_37 -1 known splice_site_del c.772+1 e7+1 1.000 - - - no_errors ACP2 HGNC ENSG00000134575 70 0 0 89 33 27.0492 PTPMT1 0 genome.wustl.edu 37 11 47594388 47594388 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 47594388 47594388 A - DEL PTPMT1 ENST00000527079 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PTPMT1 HGNC ENSG00000110536 9 0 0 8 7 46.6667 PTPRJ 0 genome.wustl.edu 37 11 48149450 48149450 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 48149450 48149450 G - DEL PTPRJ ENST00000418331 human ensembl 74_37 +1 known frame_shift_del c.1212 p.E406fs 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 112 1 0.884956 82 36 30.5085 FAM111B 0 genome.wustl.edu 37 11 58892377 58892378 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 58892377 58892378 AA - DEL FAM111B ENST00000343597 human ensembl 74_37 +1 known frame_shift_del c.807_808 p.K272fs 0.000:0.000 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 44 0 0 26 7 21.2121 OR4D9 0 genome.wustl.edu 37 11 59282706 59282706 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 59282706 59282706 G - DEL OR4D9 ENST00000329328 human ensembl 74_37 +1 known frame_shift_del c.321 p.G109fs 0.000 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 OR4D9 HGNC ENSG00000172742 92 0 0 47 28 37.3333 RPLP0P2 0 genome.wustl.edu 37 11 61405179 61405180 + RNA DEL AA AA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 61405179 61405180 AA - DEL RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 0.975:0.974 - - - no_errors RPLP0P2 HGNC ENSG00000243742 20 0 0 12 7 36.8421 RARRES3 0 genome.wustl.edu 37 11 63313709 63313709 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 63313709 63313709 A - DEL RARRES3 ENST00000255688 human ensembl 74_37 +1 known frame_shift_del c.476 p.A162fs 0.001 NULL pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 121 1 0.819672 130 46 26.1364 ADRBK1 0 genome.wustl.edu 37 11 67051562 67051562 + RNA DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 67051562 67051562 G - DEL ADRBK1 ENST00000531390 human ensembl 74_37 +1 known rna NULL NULL 0.349 - - - no_errors ADRBK1 HGNC ENSG00000173020 20 0 0 7 10 58.8235 MYEOV 0 genome.wustl.edu 37 11 69063724 69063724 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 69063724 69063724 G - DEL MYEOV ENST00000308946 human ensembl 74_37 +1 known frame_shift_del c.807 p.W272fs 0.001 NULL NULL - no_errors MYEOV HGNC ENSG00000172927 27 0 0 19 12 38.7097 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 30 0 0 11 8 42.1053 RIC3 0 genome.wustl.edu 37 11 8159967 8159968 + RNA DEL AA AA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 8159967 8159968 AA - DEL RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RIC3 HGNC ENSG00000166405 58 0 0 33 17 34 SYTL2 0 genome.wustl.edu 37 11 85437306 85437306 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 85437306 85437306 T - DEL SYTL2 ENST00000359152 human ensembl 74_37 -1 known frame_shift_del c.1766 p.N589fs 0.028 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 98 0 0 50 27 35.0649 SLC36A4 0 genome.wustl.edu 37 11 92887400 92887401 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 92887400 92887401 - A INS SLC36A4 ENST00000326402 human ensembl 74_37 -1 known frame_shift_ins c.1081_1080 p.V360fs 1.000:1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A4 HGNC ENSG00000180773 57 0 0 23 19 45.2381 SWAP70 0 genome.wustl.edu 37 11 9735070 9735070 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 11 9735070 9735070 A - DEL SWAP70 ENST00000318950 human ensembl 74_37 +1 known frame_shift_del c.298 p.N102fs 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC ENSG00000133789 84 0 0 33 23 41.0714 UHRF1BP1L 0 genome.wustl.edu 37 12 100441791 100441791 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 100441791 100441791 A - DEL UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known frame_shift_del c.3902 p.L1301fs 1.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 30 0 0 11 10 47.619 PMCH 0 genome.wustl.edu 37 12 102591346 102591346 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 102591346 102591346 T - DEL PMCH ENST00000329406 human ensembl 74_37 -1 known frame_shift_del c.203 p.N68fs 0.362 NULL pfam_Prepro-melanin_conc_hormone,prints_Prepro-melanin_conc_hormone - no_errors PMCH HGNC ENSG00000183395 68 0 0 32 14 30.4348 HSP90B1 0 genome.wustl.edu 37 12 104332202 104332204 + In_Frame_Del DEL GAA GAA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 104332202 104332204 GAA - DEL HSP90B1 ENST00000299767 human ensembl 74_37 +1 known in_frame_del c.940_942 p.E317in_frame_del 1.000:1.000:0.985 pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_HATPase_ATP-bd pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 21 0 0 15 3 16.6667 DAO 0 genome.wustl.edu 37 12 109283287 109283288 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 109283287 109283288 - C INS DAO ENST00000228476 human ensembl 74_37 +1 known frame_shift_ins c.352_353 p.R120fs 0.998:0.953 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DAO HGNC ENSG00000110887 91 0 0 54 16 22.8571 SNRNP35 0 genome.wustl.edu 37 12 123950763 123950764 + Frame_Shift_Del DEL GA GA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 123950763 123950764 GA - DEL SNRNP35 ENST00000412157 human ensembl 74_37 +1 known frame_shift_del c.691_692 p.R234fs 1.000:0.993 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP35 HGNC ENSG00000184209 51 0 0 41 16 28.0702 RPL22P19 0 genome.wustl.edu 37 12 125420367 125420367 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 125420367 125420367 T - DEL RPL22P19 ENST00000480427 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL22P19 HGNC ENSG00000241129 11 0 0 6 7 53.8462 ULK1 0 genome.wustl.edu 37 12 132402065 132402066 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 132402065 132402066 - C INS ULK1 ENST00000321867 human ensembl 74_37 +1 known frame_shift_ins c.2292_2293 p.Q766fs 0.024:0.683 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 14 0 0 7 9 56.25 GYS2 0 genome.wustl.edu 37 12 21712605 21712605 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 21712605 21712605 T - DEL GYS2 ENST00000261195 human ensembl 74_37 -1 known frame_shift_del c.1209 p.K403fs 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 38 0 0 22 9 29.0323 PKP2 0 genome.wustl.edu 37 12 33031037 33031039 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 33031037 33031039 CTC - DEL PKP2 ENST00000070846 human ensembl 74_37 -1 known in_frame_del c.777_775 p.E259in_frame_del 1.000:1.000:1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 49 0 0 43 11 20.3704 ZCRB1 0 genome.wustl.edu 37 12 42707703 42707703 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 42707703 42707703 T - DEL ZCRB1 ENST00000266529 human ensembl 74_37 -1 known frame_shift_del c.419 p.K140fs 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors ZCRB1 HGNC ENSG00000139168 32 0 0 18 11 37.931 ENDOU 0 genome.wustl.edu 37 12 48106392 48106392 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 48106392 48106392 T - DEL ENDOU ENST00000229003 human ensembl 74_37 -1 known frame_shift_del c.756 p.G253fs 0.950 pfam_Endoribonuclease_XendoU pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENDOU HGNC ENSG00000111405 26 0 0 19 9 32.1429 SENP1 0 genome.wustl.edu 37 12 48458896 48458896 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 48458896 48458896 T - DEL SENP1 ENST00000004980 human ensembl 74_37 -1 known frame_shift_del c.1227 p.G410fs 0.206 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 26 0 0 21 9 30 CBX5 0 genome.wustl.edu 37 12 54645832 54645832 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 54645832 54645832 T - DEL CBX5 ENST00000209875 human ensembl 74_37 -1 known frame_shift_del c.317 p.K106fs 1.000 superfamily_Chromodomain-like pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX5 HGNC ENSG00000094916 158 0 0 77 33 30 STAT2 0 genome.wustl.edu 37 12 56742816 56742817 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 56742816 56742817 - G INS STAT2 ENST00000314128 human ensembl 74_37 -1 known frame_shift_ins c.1468_1467 p.K489fs 0.000:0.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 72 0 0 76 31 28.972 MBD6 0 genome.wustl.edu 37 12 57921002 57921002 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 57921002 57921002 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2074 p.Q694fs 0.764 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 13 0 0 11 3 21.4286 RIMKLB 0 genome.wustl.edu 37 12 8926321 8926321 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 12 8926321 8926321 G - DEL RIMKLB ENST00000357529 human ensembl 74_37 +1 known frame_shift_del c.1102 p.G369fs 1.000 NULL pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 119 0 0 132 62 31.9588 TMEM255B 0 genome.wustl.edu 37 13 114514908 114514908 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 114514908 114514908 T - DEL TMEM255B ENST00000467169 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM255B HGNC ENSG00000184497 84 0 0 85 16 15.8416 PDS5B 0 genome.wustl.edu 37 13 33306277 33306278 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 33306277 33306278 - C INS PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_ins c.2163_2164 p.R723fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 38 0 0 33 7 17.5 PDS5B 0 genome.wustl.edu 37 13 33344568 33344568 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 33344568 33344568 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.3934 p.G1314fs 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 39 0 0 26 14 35 ZC3H13 0 genome.wustl.edu 37 13 46549602 46549603 + Frame_Shift_Ins INS - - CT TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 46549602 46549603 - CT INS ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_ins c.2284_2283 p.R761fs 0.879:0.882 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 57 0 0 40 26 39.3939 TDRD3 0 genome.wustl.edu 37 13 61084778 61084779 + Frame_Shift_Ins INS - - GG TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 13 61084778 61084779 - GG INS TDRD3 ENST00000535286 human ensembl 74_37 +1 known frame_shift_ins c.1030_1031 p.R346fs 1.000:1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 52 0 0 29 15 34.0909 DYNC1H1 0 genome.wustl.edu 37 14 102445788 102445788 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 102445788 102445788 T - DEL DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known frame_shift_del c.477 p.F161fs 0.979 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 107 0 0 58 37 38.9474 MOK 0 genome.wustl.edu 37 14 102718303 102718303 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 102718303 102718303 T - DEL MOK ENST00000361847 human ensembl 74_37 -1 known frame_shift_del c.313 p.I105fs 0.007 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_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 MOK HGNC ENSG00000080823 54 0 0 30 10 25 TEP1 0 genome.wustl.edu 37 14 20852227 20852227 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 20852227 20852227 C - DEL TEP1 ENST00000262715 human ensembl 74_37 -1 known frame_shift_del c.3504 p.Q1169fs 0.927 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 34 0 0 45 19 29.6875 SALL2 0 genome.wustl.edu 37 14 21992285 21992285 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 21992285 21992285 T - DEL SALL2 ENST00000327430 human ensembl 74_37 -1 known frame_shift_del c.1577 p.N526fs 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 60 0 0 32 17 34.6939 ENSG00000258457 0 genome.wustl.edu 37 14 23459112 23459113 + RNA DEL AG AG - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 23459112 23459113 AG - DEL ENSG00000258457 ENST00000556503 human ensembl 74_37 +1 known rna NULL NULL 0.006:0.048 - - - no_errors RP11-298I3.4 Clone_based_vega_gene ENSG00000258457 31 0 0 16 5 23.8095 CDH24 0 genome.wustl.edu 37 14 23517514 23517514 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 23517514 23517514 G - DEL CDH24 ENST00000267383 human ensembl 74_37 -1 known frame_shift_del c.2135 p.P712fs 0.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 52 0 0 61 39 39 ACIN1 0 genome.wustl.edu 37 14 23549379 23549379 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 23549379 23549379 C - DEL ACIN1 ENST00000262710 human ensembl 74_37 -1 known frame_shift_del c.1339 p.A447fs 0.998 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 82 0 0 58 23 28.3951 NFATC4 0 genome.wustl.edu 37 14 24843554 24843563 + Frame_Shift_Del DEL GCCCCAGGTG GCCCCAGGTG - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 GCCCCAGGTG GCCCCAGGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 24843554 24843563 GCCCCAGGTG - DEL NFATC4 ENST00000413692 human ensembl 74_37 +1 known frame_shift_del c.1944_1953 p.P649fs 0.993:1.000:1.000:0.964:0.999:1.000:1.000:1.000:1.000:1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT,prints_NFAT pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 28 0 0 23 14 37.8378 SIPA1L1 0 genome.wustl.edu 37 14 72190553 72190554 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 72190553 72190554 - A INS SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known frame_shift_ins c.4461_4462 p.P1489fs 1.000:1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 101 0 0 80 34 29.8246 VASH1 0 genome.wustl.edu 37 14 77229171 77229171 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 77229171 77229171 G - DEL VASH1 ENST00000167106 human ensembl 74_37 +1 known frame_shift_del c.7 p.K5fs 0.996 NULL NULL - no_errors VASH1 HGNC ENSG00000071246 10 0 0 14 8 36.3636 ASB2 0 genome.wustl.edu 37 14 94405856 94405857 + Frame_Shift_Del DEL GC GC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 14 94405856 94405857 GC - DEL ASB2 ENST00000315988 human ensembl 74_37 -1 known frame_shift_del c.1071_1070 p.R357fs 0.996:1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 24 0 0 16 9 36 NPAP1 0 genome.wustl.edu 37 15 24921326 24921326 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 24921326 24921326 C - DEL NPAP1 ENST00000329468 human ensembl 74_37 +1 known frame_shift_del c.312 p.P106fs 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 37 0 0 33 20 37.7358 SNORD116-29 0 genome.wustl.edu 37 15 25351684 25351684 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 25351684 25351684 A - DEL SNORD116-29 ENST00000384516 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-29 HGNC ENSG00000207245 52 0 0 45 24 34.7826 ATP10A 0 genome.wustl.edu 37 15 25924677 25924678 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 25924677 25924678 - A INS ATP10A ENST00000356865 human ensembl 74_37 -1 known frame_shift_ins c.4311_4310 p.L1437fs 0.000:0.379 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP10A HGNC ENSG00000206190 59 0 0 82 9 9.89011 RMDN3 0 genome.wustl.edu 37 15 41029894 41029894 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 41029894 41029894 T - DEL RMDN3 ENST00000260385 human ensembl 74_37 -1 known frame_shift_del c.1156 p.T386fs 1.000 NULL NULL - no_errors RMDN3 HGNC ENSG00000137824 43 0 0 41 12 22.6415 COPS2 0 genome.wustl.edu 37 15 49426244 49426244 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 49426244 49426244 A - DEL COPS2 ENST00000299259 human ensembl 74_37 -1 known frame_shift_del c.798 p.F266fs 1.000 smart_PAM pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 61 0 0 26 12 31.5789 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987962 + RNA DEL AAA AAA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 51987960 51987962 AAA - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.012:0.011 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 17 0 0 7 3 30 ENSG00000259185 0 genome.wustl.edu 37 15 52201131 52201131 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 52201131 52201131 T - DEL ENSG00000259185 ENST00000559302 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-56B16.4 Clone_based_vega_gene ENSG00000259185 8 0 0 7 3 30 DYX1C1 0 genome.wustl.edu 37 15 55759182 55759182 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 55759182 55759182 T - DEL DYX1C1 ENST00000321149 human ensembl 74_37 -1 known frame_shift_del c.583 p.I195fs 0.004 NULL pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 25 0 0 14 5 26.3158 USP3-AS1 0 genome.wustl.edu 37 15 63881043 63881043 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 63881043 63881043 A - DEL USP3-AS1 ENST00000558831 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors USP3-AS1 HGNC ENSG00000259248 122 0 0 76 43 36.1345 HERC1 0 genome.wustl.edu 37 15 63944710 63944711 + Frame_Shift_Ins INS - - T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 63944710 63944711 - T INS HERC1 ENST00000443617 human ensembl 74_37 -1 known frame_shift_ins c.10321_10320 p.G3440fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 11 0 0 6 3 33.3333 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 64967247 64967247 A - DEL ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_del c.2194 p.K734fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 125 1 0.793651 131 74 36.0976 TIPIN 0 genome.wustl.edu 37 15 66672095 66672095 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 66672095 66672095 T - DEL TIPIN ENST00000561773 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors TIPIN HGNC ENSG00000075131 58 0 0 35 19 35.1852 IDH2 0 genome.wustl.edu 37 15 90631917 90631918 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 90631917 90631918 - C INS IDH2 ENST00000330062 human ensembl 74_37 -1 known frame_shift_ins c.436_435 p.T145fs 0.992:0.686 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH2 HGNC ENSG00000182054 75 0 0 52 27 34.1772 SEMA4B 0 genome.wustl.edu 37 15 90766838 90766841 + Frame_Shift_Del DEL CCTC CCTC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 CCTC CCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 15 90766838 90766841 CCTC - DEL SEMA4B ENST00000332496 human ensembl 74_37 +1 known frame_shift_del c.909_912 p.F303fs 1.000:1.000:1.000:1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4B HGNC ENSG00000185033 39 0 0 17 17 50 TVP23A 0 genome.wustl.edu 37 16 10867203 10867203 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 10867203 10867203 A - DEL TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_del c.420 p.F140fs 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 56 0 0 31 17 35.4167 GPR139 0 genome.wustl.edu 37 16 20043085 20043085 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 20043085 20043085 T - DEL GPR139 ENST00000570682 human ensembl 74_37 -1 known frame_shift_del c.1034 p.N345fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 137 0 0 76 47 38.2114 CASKIN1 0 genome.wustl.edu 37 16 2231521 2231522 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 2231521 2231522 - C INS CASKIN1 ENST00000343516 human ensembl 74_37 -1 known frame_shift_ins c.1848_1847 p.L618fs 0.973:0.998 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 10 0 0 13 5 27.7778 SRCAP 0 genome.wustl.edu 37 16 30734923 30734923 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 30734923 30734923 C - DEL SRCAP ENST00000262518 human ensembl 74_37 +1 known frame_shift_del c.4178 p.L1395fs 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 133 0 0 89 41 31.5385 TRAP1 0 genome.wustl.edu 37 16 3716059 3716059 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 3716059 3716059 T - DEL TRAP1 ENST00000246957 human ensembl 74_37 -1 known frame_shift_del c.1296 p.D433fs 0.998 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 74 0 0 36 24 40 LONP2 0 genome.wustl.edu 37 16 48296693 48296693 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 48296693 48296693 A - DEL LONP2 ENST00000285737 human ensembl 74_37 +1 known frame_shift_del c.892 p.M300fs 1.000 tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 38 0 0 15 11 42.3077 IRX3 0 genome.wustl.edu 37 16 54319086 54319087 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 54319086 54319087 - C INS IRX3 ENST00000329734 human ensembl 74_37 -1 known frame_shift_ins c.707_706 p.E236fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX3 HGNC ENSG00000177508 18 0 0 7 4 36.3636 FAM92B 0 genome.wustl.edu 37 16 85135924 85135924 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 85135924 85135924 A - DEL FAM92B ENST00000539556 human ensembl 74_37 -1 known frame_shift_del c.547 p.C183fs 0.000 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC ENSG00000153789 58 0 0 26 17 39.5349 ZC3H18 0 genome.wustl.edu 37 16 88694459 88694459 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 88694459 88694459 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2401 p.Q804fs 0.269 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 108 0 0 115 59 33.908 CBFA2T3 0 genome.wustl.edu 37 16 88967982 88967982 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 16 88967982 88967982 G - DEL CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known frame_shift_del c.234 p.S79fs 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 29 0 0 36 30 45.4545 CRK 0 genome.wustl.edu 37 17 1326755 1326758 + RNA DEL AAAA AAAA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 1326755 1326758 AAAA - DEL CRK ENST00000572145 human ensembl 74_37 -1 known rna NULL NULL 0.352:0.023:0.010:0.011 - - - no_errors CRK HGNC ENSG00000167193 50 0 0 22 7 24.1379 PAFAH1B1 0 genome.wustl.edu 37 17 2570628 2570628 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 2570628 2570628 A - DEL PAFAH1B1 ENST00000397193 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors PAFAH1B1 HGNC ENSG00000007168 9 0 0 2 3 60 KIAA0100 0 genome.wustl.edu 37 17 26961947 26961947 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 26961947 26961947 A - DEL KIAA0100 ENST00000528896 human ensembl 74_37 -1 known frame_shift_del c.2658 p.F886fs 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 223 0 0 135 86 38.914 ENSG00000272191 0 genome.wustl.edu 37 17 35300495 35300496 + RNA DEL AA AA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 35300495 35300496 AA - DEL ENSG00000272191 ENST00000607336 human ensembl 74_37 -1 known rna NULL NULL 0.027:0.005 - - - no_errors RP11-445F12.2 Clone_based_vega_gene ENSG00000272191 13 0 0 7 10 58.8235 STAT5B 0 genome.wustl.edu 37 17 40370235 40370236 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 40370235 40370236 - G INS STAT5B ENST00000293328 human ensembl 74_37 -1 known frame_shift_ins c.1103_1102 p.Q368fs 1.000:1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 46 0 0 37 17 31.4815 PELP1 0 genome.wustl.edu 37 17 4574987 4574987 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 4574987 4574987 T - DEL PELP1 ENST00000301396 human ensembl 74_37 -1 known frame_shift_del c.3731 p.K1244fs 0.993 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 32 0 0 12 18 60 SPAG9 0 genome.wustl.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 49077041 49077041 T - DEL SPAG9 ENST00000262013 human ensembl 74_37 -1 known frame_shift_del c.1645 p.R549fs 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 60 0 0 13 25 65.7895 COIL 0 genome.wustl.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 55028016 55028016 T - DEL COIL ENST00000240316 human ensembl 74_37 -1 known frame_shift_del c.587 p.K196fs 0.030 NULL NULL - no_errors COIL HGNC ENSG00000121058 104 1 0.952381 44 38 46.3415 CUEDC1 0 genome.wustl.edu 37 17 55962835 55962835 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 55962835 55962835 G - DEL CUEDC1 ENST00000360238 human ensembl 74_37 -1 known frame_shift_del c.91 p.Q31fs 1.000 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors CUEDC1 HGNC ENSG00000180891 33 0 0 27 17 38.6364 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 146 0 0 62 135 68.5279 APPBP2 0 genome.wustl.edu 37 17 58539146 58539146 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 58539146 58539146 A - DEL APPBP2 ENST00000592995 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors APPBP2 HGNC ENSG00000062725 73 0 0 20 19 48.7179 TNRC6C 0 genome.wustl.edu 37 17 76047106 76047107 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 76047106 76047107 - G INS TNRC6C ENST00000335749 human ensembl 74_37 +1 known frame_shift_ins c.1963_1964 p.E657fs 1.000:1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 15 0 0 15 9 37.5 RAB40B 0 genome.wustl.edu 37 17 80615785 80615786 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 17 80615785 80615786 - G INS RAB40B ENST00000571995 human ensembl 74_37 -1 known frame_shift_ins c.791_790 p.Q264fs 1.000:1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40B HGNC ENSG00000141542 141 1 0.704225 160 32 16.6667 PSMG2 0 genome.wustl.edu 37 18 12720544 12720544 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 12720544 12720544 A - DEL PSMG2 ENST00000317615 human ensembl 74_37 +1 known frame_shift_del c.443 p.S150fs 0.697 pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk - no_errors PSMG2 HGNC ENSG00000128789 32 0 0 4 9 69.2308 CABYR 0 genome.wustl.edu 37 18 21739551 21739551 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 21739551 21739551 T - DEL CABYR ENST00000399496 human ensembl 74_37 +1 known frame_shift_del c.657 p.Q222fs 0.993 NULL pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC ENSG00000154040 67 0 0 46 25 35.2113 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 27 0 0 14 6 30 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 34205516 34205516 C - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1000 p.S336fs 0.999 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 50 0 0 61 48 44.0367 ALPK2 0 genome.wustl.edu 37 18 56246941 56246941 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 18 56246941 56246941 A - DEL ALPK2 ENST00000361673 human ensembl 74_37 -1 known frame_shift_del c.1067 p.L356fs 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 95 0 0 39 37 48.6842 ENSG00000267387 0 genome.wustl.edu 37 19 10200538 10200538 + RNA DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 10200538 10200538 C - DEL ENSG00000267387 ENST00000589622 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors CTD-2240E14.4 Clone_based_vega_gene ENSG00000267387 11 0 0 11 4 26.6667 ABCA7 0 genome.wustl.edu 37 19 1058906 1058906 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 1058906 1058906 G - DEL ABCA7 ENST00000263094 human ensembl 74_37 +1 known frame_shift_del c.5367 p.D1791fs 0.915 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 52 0 0 47 7 12.963 DAZAP1 0 genome.wustl.edu 37 19 1430254 1430254 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 1430254 1430254 C - DEL DAZAP1 ENST00000233078 human ensembl 74_37 +1 known frame_shift_del c.764 p.P257fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 26 0 0 32 19 37.2549 ZNF90 0 genome.wustl.edu 37 19 20216076 20216076 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 20216076 20216076 A - DEL ZNF90 ENST00000418063 human ensembl 74_37 +1 known frame_shift_del c.177 p.K61fs 0.002 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF90 HGNC ENSG00000213988 87 0 0 48 18 27.2727 ZNF626 0 genome.wustl.edu 37 19 20808338 20808338 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 20808338 20808338 T - DEL ZNF626 ENST00000601440 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 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 ZNF626 HGNC ENSG00000188171 93 0 0 40 20 33.3333 NCLN 0 genome.wustl.edu 37 19 3204745 3204745 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 3204745 3204745 G - DEL NCLN ENST00000246117 human ensembl 74_37 +1 known frame_shift_del c.1204 p.V402fs 0.987 pirsf_Nicalin pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin - no_errors NCLN HGNC ENSG00000125912 12 0 0 15 8 34.7826 FZR1 0 genome.wustl.edu 37 19 3532525 3532525 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 3532525 3532525 G - DEL FZR1 ENST00000395095 human ensembl 74_37 +1 known frame_shift_del c.1119 p.G375fs 0.008 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 53 0 0 20 13 39.3939 RYR1 0 genome.wustl.edu 37 19 39068674 39068675 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 39068674 39068675 - G INS RYR1 ENST00000359596 human ensembl 74_37 +1 known frame_shift_ins c.14289_14290 p.L4764fs 0.006:1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 32 0 0 34 17 33.3333 LTBP4 0 genome.wustl.edu 37 19 41117787 41117787 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 41117787 41117787 C - DEL LTBP4 ENST00000308370 human ensembl 74_37 +1 known frame_shift_del c.2277 p.P761fs 0.632 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 14 0 0 11 9 45 PVR 0 genome.wustl.edu 37 19 45153247 45153248 + Frame_Shift_Del DEL CA CA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 45153247 45153248 CA - DEL PVR ENST00000425690 human ensembl 74_37 +1 known frame_shift_del c.594_595 p.T199fs 1.000:1.000 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVR HGNC ENSG00000073008 58 0 0 61 26 29.8851 TICAM1 0 genome.wustl.edu 37 19 4816465 4816465 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 4816465 4816465 G - DEL TICAM1 ENST00000248244 human ensembl 74_37 -1 known frame_shift_del c.1925 p.P642fs 0.003 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 31 0 0 29 16 35.5556 SYNGR4 0 genome.wustl.edu 37 19 48879543 48879544 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 48879543 48879544 - C INS SYNGR4 ENST00000344846 human ensembl 74_37 +1 known frame_shift_ins c.673_674 p.R227fs 0.267:0.006 pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR4 HGNC ENSG00000105467 59 0 0 45 23 33.8235 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 76 0 0 47 34 41.9753 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 187 0 0 179 66 26.9388 PRR12 0 genome.wustl.edu 37 19 50102880 50102880 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 50102880 50102880 G - DEL PRR12 ENST00000418929 human ensembl 74_37 +1 novel frame_shift_del c.4030 p.G1345fs 0.999 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 17 0 0 10 8 44.4444 ZNF587B 0 genome.wustl.edu 37 19 58353877 58353877 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 58353877 58353877 A - DEL ZNF587B ENST00000594901 human ensembl 74_37 +1 novel frame_shift_del c.1835 p.K614fs 0.973 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 ZNF587B HGNC ENSG00000269343 32 0 0 26 9 25.7143 FBN3 0 genome.wustl.edu 37 19 8196625 8196625 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 19 8196625 8196625 C - DEL FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_del c.1803 p.L602fs 0.999 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 50 0 0 29 8 21.6216 TAF1B 0 genome.wustl.edu 37 2 10059788 10059788 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 10059788 10059788 A - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.1404 p.S471fs 0.003 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 67 0 0 50 9 15.2542 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 92 0 0 16 54 77.1429 TTN-AS1 0 genome.wustl.edu 37 2 179392052 179392052 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 179392052 179392052 A - DEL TTN-AS1 ENST00000587576 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors TTN-AS1 HGNC ENSG00000237298 25 0 0 18 7 28 TTN 0 genome.wustl.edu 37 2 179395589 179395589 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 179395589 179395589 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.98049 p.K32683fs 0.909 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 64 0 0 40 28 41.1765 TTN 0 genome.wustl.edu 37 2 179517790 179517790 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 179517790 179517790 T - DEL TTN ENST00000589042 human ensembl 74_37 -1 putative frame_shift_del c.38853 p.K12951fs 0.998 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 141 0 0 70 24 25.5319 AOX1 0 genome.wustl.edu 37 2 201473949 201473949 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 201473949 201473949 A - DEL AOX1 ENST00000465297 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors AOX1 HGNC ENSG00000138356 21 0 0 16 4 20 SLC4A3 0 genome.wustl.edu 37 2 220494110 220494111 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 220494110 220494111 - C INS SLC4A3 ENST00000273063 human ensembl 74_37 +1 known frame_shift_ins c.462_463 p.H156fs 0.015:0.049 prints_Anion_exchange_3 pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 24 0 0 13 5 27.7778 SP100 0 genome.wustl.edu 37 2 231326044 231326044 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 231326044 231326044 A - DEL SP100 ENST00000340126 human ensembl 74_37 +1 known frame_shift_del c.888 p.K298fs 0.995 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 57 0 0 31 18 36.7347 LTBP1 0 genome.wustl.edu 37 2 33590553 33590554 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 33590553 33590554 - C INS LTBP1 ENST00000354476 human ensembl 74_37 +1 known frame_shift_ins c.4697_4698 p.L1568fs 1.000:1.000 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 42 0 0 28 32 53.3333 ZFP36L2 0 genome.wustl.edu 37 2 43452885 43452886 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 43452885 43452886 TC - DEL ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known frame_shift_del c.58_57 p.K20fs 1.000:1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 28 0 0 19 10 34.4828 LHCGR 0 genome.wustl.edu 37 2 48915172 48915172 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 48915172 48915172 A - DEL LHCGR ENST00000294954 human ensembl 74_37 -1 known frame_shift_del c.1764 p.F588fs 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 96 0 0 34 20 37.037 NRXN1 0 genome.wustl.edu 37 2 50574000 50574001 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 50574000 50574001 - C INS NRXN1 ENST00000342183 human ensembl 74_37 -1 known frame_shift_ins c.88_87 p.R29fs 1.000:1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 11 0 0 8 8 50 ETAA1 0 genome.wustl.edu 37 2 67629928 67629928 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 67629928 67629928 T - DEL ETAA1 ENST00000462772 human ensembl 74_37 +1 known rna NULL NULL 0.156 - - - no_errors ETAA1 HGNC ENSG00000143971 39 0 0 13 16 55.1724 VAX2 0 genome.wustl.edu 37 2 71160188 71160188 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 71160188 71160188 C - DEL VAX2 ENST00000234392 human ensembl 74_37 +1 known frame_shift_del c.727 p.P244fs 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors VAX2 HGNC ENSG00000116035 31 0 0 21 17 44.7368 GGCX 0 genome.wustl.edu 37 2 85780733 85780733 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 85780733 85780733 T - DEL GGCX ENST00000482662 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors GGCX HGNC ENSG00000115486 16 0 0 14 5 26.3158 ANKRD20A8P 0 genome.wustl.edu 37 2 95483039 95483039 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 95483039 95483039 T - DEL ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.232 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 53 0 0 19 6 24 EIF5B 0 genome.wustl.edu 37 2 99976805 99976805 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 2 99976805 99976805 A - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.142 p.K50fs 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 26 0 0 9 9 50 NDUFAF5 0 genome.wustl.edu 37 20 13789596 13789596 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 13789596 13789596 A - DEL NDUFAF5 ENST00000464269 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NDUFAF5 HGNC ENSG00000101247 21 0 0 18 7 28 CST1 0 genome.wustl.edu 37 20 23729753 23729754 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 23729753 23729754 - C INS CST1 ENST00000304749 human ensembl 74_37 -1 known frame_shift_ins c.242_241 p.V81fs 0.004:0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 170 1 0.584795 83 45 35.1562 CST1 0 genome.wustl.edu 37 20 23729754 23729754 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 23729754 23729754 C - DEL CST1 ENST00000304749 human ensembl 74_37 -1 known frame_shift_del c.241 p.V81fs 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 171 0 0 98 30 23.4375 BPIFB4 0 genome.wustl.edu 37 20 31671214 31671214 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 31671214 31671214 C - DEL BPIFB4 ENST00000375483 human ensembl 74_37 +1 known frame_shift_del c.211 p.P73fs 0.030 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 97 0 0 100 14 12.2807 MIR644A 0 genome.wustl.edu 37 20 33054129 33054130 + RNA INS - - T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 33054129 33054130 - T INS MIR644A ENST00000385262 human ensembl 74_37 +1 known rna NULL NULL 0.024:0.030 - - - no_errors MIR644A HGNC ENSG00000207997 32 0 0 6 7 53.8462 TP53INP2 0 genome.wustl.edu 37 20 33296586 33296586 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 33296586 33296586 C - DEL TP53INP2 ENST00000374809 human ensembl 74_37 +1 known frame_shift_del c.43 p.E17fs 0.030 NULL NULL - no_errors TP53INP2 HGNC ENSG00000078804 9 0 0 10 6 37.5 RALGAPB 0 genome.wustl.edu 37 20 37146233 37146233 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 37146233 37146233 C - DEL RALGAPB ENST00000262879 human ensembl 74_37 +1 known frame_shift_del c.1136 p.P381fs 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 87 0 0 69 35 33.6538 PTPRT 0 genome.wustl.edu 37 20 40739003 40739003 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 40739003 40739003 G - DEL PTPRT ENST00000373198 human ensembl 74_37 -1 known frame_shift_del c.3281 p.P1094fs 0.991 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 43 0 0 48 12 20 CD40 0 genome.wustl.edu 37 20 44757522 44757522 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 44757522 44757522 C - DEL CD40 ENST00000372285 human ensembl 74_37 +1 known frame_shift_del c.677 p.H228fs 0.001 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_5,prints_Fas_rcpt - no_errors CD40 HGNC ENSG00000101017 48 0 0 40 15 27.2727 RAE1 0 genome.wustl.edu 37 20 55953093 55953093 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 55953093 55953093 A - DEL RAE1 ENST00000371242 human ensembl 74_37 +1 known frame_shift_del c.1045 p.N351fs 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 RAE1 HGNC ENSG00000101146 30 0 0 13 3 18.75 PCK1 0 genome.wustl.edu 37 20 56140815 56140816 + Frame_Shift_Ins INS - - GA TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 56140815 56140816 - GA INS PCK1 ENST00000319441 human ensembl 74_37 +1 known frame_shift_ins c.1824_1825 p.I611fs 0.272:0.285 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 58 0 0 15 9 37.5 DIDO1 0 genome.wustl.edu 37 20 61512074 61512074 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 20 61512074 61512074 C - DEL DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_del c.5234 p.G1745fs 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 102 1 0.970874 91 46 33.5766 BAGE2 0 genome.wustl.edu 37 21 11039238 11039238 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 11039238 11039238 T - DEL BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors BAGE2 HGNC ENSG00000187172 267 0 0 223 14 5.90717 CYYR1 0 genome.wustl.edu 37 21 27840847 27840848 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 27840847 27840848 - G INS CYYR1 ENST00000299340 human ensembl 74_37 -1 known frame_shift_ins c.438_437 p.P147fs 1.000:1.000 pfam_CYYR1 pfam_CYYR1 - no_errors CYYR1 HGNC ENSG00000166265 41 0 0 36 11 23.4043 TCP10L 0 genome.wustl.edu 37 21 33949091 33949091 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 33949091 33949091 C - DEL TCP10L ENST00000300258 human ensembl 74_37 -1 known frame_shift_del c.641 p.G214fs 0.003 NULL NULL - no_errors TCP10L HGNC ENSG00000242220 112 0 0 67 25 27.1739 TTC3 0 genome.wustl.edu 37 21 38512963 38512963 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 38512963 38512963 A - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.1762 p.N590fs 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 76 0 0 43 24 35.8209 TTC3 0 genome.wustl.edu 37 21 38524243 38524243 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 38524243 38524243 A - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.2327 p.E779fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 69 0 0 28 12 30 COL18A1 0 genome.wustl.edu 37 21 46916425 46916425 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 21 46916425 46916425 C - DEL COL18A1 ENST00000359759 human ensembl 74_37 +1 known frame_shift_del c.3765 p.P1257fs 0.614 pfam_Collagen pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 71 0 0 71 34 32.381 MICAL3 0 genome.wustl.edu 37 22 18300311 18300311 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 18300311 18300311 G - DEL MICAL3 ENST00000441493 human ensembl 74_37 -1 known frame_shift_del c.5116 p.R1706fs 0.990 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 17 0 0 10 9 47.3684 TSSK2 0 genome.wustl.edu 37 22 19119732 19119732 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 19119732 19119732 C - DEL TSSK2 ENST00000399635 human ensembl 74_37 +1 known frame_shift_del c.820 p.K276fs 0.998 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK2 HGNC ENSG00000206203 84 0 0 96 12 11.1111 PI4KA 0 genome.wustl.edu 37 22 21188945 21188946 + Splice_Site INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 21188945 21188946 - A INS PI4KA ENST00000255882 human ensembl 74_37 -1 known splice_site_ins c.274-3_274-2 e3-2 1.000:0.031 - - - no_errors PI4KA HGNC ENSG00000241973 59 0 0 43 21 32.8125 ENSG00000234353 0 genome.wustl.edu 37 22 23982670 23982670 + RNA DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 23982670 23982670 G - DEL ENSG00000234353 ENST00000430707 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors AP000347.4 Clone_based_vega_gene ENSG00000234353 23 0 0 19 12 38.7097 TIMP3 0 genome.wustl.edu 37 22 33255323 33255324 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 33255323 33255324 - C INS TIMP3 ENST00000266085 human ensembl 74_37 +1 known frame_shift_ins c.595_596 p.D202fs 1.000:0.990 NULL pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 26 0 0 26 14 35 HMGXB4 0 genome.wustl.edu 37 22 35661544 35661544 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 35661544 35661544 A - DEL HMGXB4 ENST00000216106 human ensembl 74_37 +1 known frame_shift_del c.1163 p.K391fs 1.000 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB4 HGNC ENSG00000100281 41 0 0 41 7 14.5833 MYH9 0 genome.wustl.edu 37 22 36737461 36737462 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 36737461 36737462 - G INS MYH9 ENST00000216181 human ensembl 74_37 -1 known frame_shift_ins c.444_443 p.H149fs 0.197:1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 84 0 0 64 20 23.8095 CELSR1 0 genome.wustl.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 22 46931227 46931227 C - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.1841 p.G614fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 34 0 0 14 38 73.0769 GOLGB1 0 genome.wustl.edu 37 3 121413503 121413503 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 121413503 121413503 T - DEL GOLGB1 ENST00000340645 human ensembl 74_37 -1 known frame_shift_del c.5852 p.N1951fs 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 166 0 0 151 54 26.3415 EAF2 0 genome.wustl.edu 37 3 121573659 121573659 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 121573659 121573659 A - DEL EAF2 ENST00000273668 human ensembl 74_37 +1 known frame_shift_del c.327 p.T112fs 0.970 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 69 0 0 43 16 27.1186 ACAD11 0 genome.wustl.edu 37 3 132298379 132298379 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 132298379 132298379 T - DEL ACAD11 ENST00000264990 human ensembl 74_37 -1 known frame_shift_del c.1645 p.I549fs 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 56 0 0 45 11 19.6429 SLC35G2 0 genome.wustl.edu 37 3 136573486 136573486 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 136573486 136573486 A - DEL SLC35G2 ENST00000393079 human ensembl 74_37 +1 known frame_shift_del c.184 p.66fs 1.000 NULL pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 119 0 0 57 66 53.6585 MED12L 0 genome.wustl.edu 37 3 150877786 150877786 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 150877786 150877786 C - DEL MED12L ENST00000474524 human ensembl 74_37 +1 known frame_shift_del c.1005 p.G338fs 0.269 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 133 0 0 213 85 28.5235 GPR171 0 genome.wustl.edu 37 3 150917110 150917110 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 150917110 150917110 A - DEL GPR171 ENST00000309180 human ensembl 74_37 -1 known frame_shift_del c.64 p.Y22fs 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR171 HGNC ENSG00000174946 48 0 0 47 17 26.5625 GPR149 0 genome.wustl.edu 37 3 154145305 154145305 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 154145305 154145305 T - DEL GPR149 ENST00000389740 human ensembl 74_37 -1 known frame_shift_del c.1174 p.I392fs 0.909 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 42 0 0 40 18 31.0345 VEPH1 0 genome.wustl.edu 37 3 157081227 157081227 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 157081227 157081227 T - DEL VEPH1 ENST00000362010 human ensembl 74_37 -1 known frame_shift_del c.1661 p.N554fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 130 1 0.763359 124 44 26.1905 LRRC31 0 genome.wustl.edu 37 3 169579523 169579523 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 169579523 169579523 T - DEL LRRC31 ENST00000316428 human ensembl 74_37 -1 known frame_shift_del c.254 p.K85fs 0.003 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 157 0 0 152 55 26.57 SDHAP1 0 genome.wustl.edu 37 3 195709193 195709193 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 195709193 195709193 A - DEL SDHAP1 ENST00000413474 human ensembl 74_37 -1 known rna NULL NULL 0.759 - - - no_errors SDHAP1 HGNC ENSG00000185485 49 0 0 82 6 6.81818 SGOL1 0 genome.wustl.edu 37 3 20216050 20216050 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 20216050 20216050 T - DEL SGOL1 ENST00000263753 human ensembl 74_37 -1 known frame_shift_del c.973 p.M325fs 0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 37 0 0 23 7 23.3333 TRANK1 0 genome.wustl.edu 37 3 36876253 36876253 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 36876253 36876253 T - DEL TRANK1 ENST00000429976 human ensembl 74_37 -1 known frame_shift_del c.5531 p.K1844fs 1.000 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 48 0 0 44 17 27.8689 LRRFIP2 0 genome.wustl.edu 37 3 37114286 37114286 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 37114286 37114286 T - DEL LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known frame_shift_del c.1459 p.I487fs 1.000 pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 60 0 0 60 20 25 ENSG00000271941 0 genome.wustl.edu 37 3 43388801 43388801 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 43388801 43388801 T - DEL ENSG00000271941 ENST00000607513 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-188P20.3 Clone_based_vega_gene ENSG00000271941 114 0 0 113 41 26.6234 KIAA1143 0 genome.wustl.edu 37 3 44795778 44795778 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 44795778 44795778 T - DEL KIAA1143 ENST00000296121 human ensembl 74_37 -1 known frame_shift_del c.191 p.K64fs 1.000 NULL NULL - no_errors KIAA1143 HGNC ENSG00000163807 78 0 0 64 23 26.4368 MAPKAPK3 0 genome.wustl.edu 37 3 50655080 50655080 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 50655080 50655080 G - DEL MAPKAPK3 ENST00000357955 human ensembl 74_37 +1 known frame_shift_del c.84 p.R31fs 0.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 75 0 0 120 36 23.0769 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 38 0 0 69 18 20.6897 ENSG00000271976 0 genome.wustl.edu 37 3 53894307 53894308 + RNA INS - - T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 53894307 53894308 - T INS ENSG00000271976 ENST00000607783 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002 - - - no_errors RP11-884K10.7 Clone_based_vega_gene ENSG00000271976 43 0 0 61 16 20.7792 FOXP1 0 genome.wustl.edu 37 3 71008342 71008342 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 71008342 71008342 T - DEL FOXP1 ENST00000460805 human ensembl 74_37 -1 known rna NULL NULL 0.439 - - - no_errors FOXP1 HGNC ENSG00000114861 49 0 0 31 40 56.338 BRPF1 0 genome.wustl.edu 37 3 9786078 9786078 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 3 9786078 9786078 C - DEL BRPF1 ENST00000383829 human ensembl 74_37 +1 known frame_shift_del c.2806 p.Q938fs 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 26 0 0 25 12 32.4324 ANK2 0 genome.wustl.edu 37 4 114274959 114274959 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 114274959 114274959 A - DEL ANK2 ENST00000357077 human ensembl 74_37 +1 known frame_shift_del c.5185 p.G1731fs 0.083 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 260 0 0 197 107 35.1974 BBS12 0 genome.wustl.edu 37 4 123664721 123664722 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 123664721 123664722 - A INS BBS12 ENST00000314218 human ensembl 74_37 +1 known frame_shift_ins c.1674_1675 p.E560fs 0.000:0.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 79 0 0 31 18 36.7347 PROM1 0 genome.wustl.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 15995680 15995680 T - DEL PROM1 ENST00000447510 human ensembl 74_37 -1 known frame_shift_del c.1697 p.N566fs 0.415 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 61 0 0 46 17 26.9841 TENM3 0 genome.wustl.edu 37 4 183714567 183714567 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 183714567 183714567 T - DEL TENM3 ENST00000406950 human ensembl 74_37 +1 known frame_shift_del c.6742 p.Y2250fs 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 52 0 0 23 10 30.303 CCDC110 0 genome.wustl.edu 37 4 186379943 186379943 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 186379943 186379943 T - DEL CCDC110 ENST00000307588 human ensembl 74_37 -1 known frame_shift_del c.1798 p.S600fs 0.015 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 59 0 0 33 17 34 SORBS2 0 genome.wustl.edu 37 4 186515044 186515044 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 186515044 186515044 C - DEL SORBS2 ENST00000284776 human ensembl 74_37 -1 known frame_shift_del c.3130 p.E1044fs 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_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 69 0 0 40 12 23.0769 FAM193A 0 genome.wustl.edu 37 4 2661593 2661593 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 2661593 2661593 C - DEL FAM193A ENST00000324666 human ensembl 74_37 +1 known frame_shift_del c.684 p.V231fs 0.995 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 134 0 0 84 59 41.2587 HTT 0 genome.wustl.edu 37 4 3133117 3133117 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 3133117 3133117 A - DEL HTT ENST00000355072 human ensembl 74_37 +1 known frame_shift_del c.2091 p.N699fs 0.273 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 56 0 0 22 10 31.25 HGFAC 0 genome.wustl.edu 37 4 3445854 3445854 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 3445854 3445854 C - DEL HGFAC ENST00000382774 human ensembl 74_37 +1 known frame_shift_del c.564 p.R190fs 1.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 30 0 0 21 6 22.2222 TLR6 0 genome.wustl.edu 37 4 38830974 38830974 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 38830974 38830974 T - DEL TLR6 ENST00000381950 human ensembl 74_37 -1 known frame_shift_del c.121 p.R41fs 0.001 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,pfam_Cys-rich_flank_reg_C,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR6 HGNC ENSG00000174130 125 0 0 70 21 23.0769 N4BP2 0 genome.wustl.edu 37 4 40144449 40144449 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 40144449 40144449 A - DEL N4BP2 ENST00000261435 human ensembl 74_37 +1 known frame_shift_del c.4942 p.N1650fs 0.548 pfam_DUF1771 pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 65 0 0 34 20 37.037 KIAA1211 0 genome.wustl.edu 37 4 57179503 57179503 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 57179503 57179503 A - DEL KIAA1211 ENST00000504228 human ensembl 74_37 +1 known frame_shift_del c.495 p.K167fs 0.997 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 94 0 0 78 50 39.0625 AFF1 0 genome.wustl.edu 37 4 88035872 88035872 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 88035872 88035872 G - DEL AFF1 ENST00000395146 human ensembl 74_37 +1 known frame_shift_del c.1887 p.E631fs 0.481 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 64 0 0 73 12 14.1176 GRID2 0 genome.wustl.edu 37 4 93225753 93225754 + RNA DEL AA AA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 93225753 93225754 AA - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GRID2 HGNC ENSG00000152208 29 0 0 15 5 25 BMPR1B 0 genome.wustl.edu 37 4 96025646 96025646 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 4 96025646 96025646 C - DEL BMPR1B ENST00000440890 human ensembl 74_37 +1 known frame_shift_del c.161 p.R56fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 67 0 0 34 25 42.3729 MCC 0 genome.wustl.edu 37 5 112487025 112487025 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 112487025 112487025 T - DEL MCC ENST00000302475 human ensembl 74_37 -1 known frame_shift_del c.152 p.K51fs 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 31 0 0 19 7 26.9231 BRD8 0 genome.wustl.edu 37 5 137505020 137505021 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 137505020 137505021 - G INS BRD8 ENST00000254900 human ensembl 74_37 -1 known frame_shift_ins c.533_532 p.R178fs 1.000:1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 70 0 0 55 17 23.6111 KIF20A 0 genome.wustl.edu 37 5 137519413 137519413 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 137519413 137519413 G - DEL KIF20A ENST00000394894 human ensembl 74_37 +1 known frame_shift_del c.1176 p.E394fs 0.956 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 42 0 0 18 9 33.3333 TRIO 0 genome.wustl.edu 37 5 14387627 14387627 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 14387627 14387627 A - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.3651 p.K1219fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 118 0 0 53 36 40.4494 RBM27 0 genome.wustl.edu 37 5 145647320 145647320 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 145647320 145647320 A - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440 p.K816fs 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 65 0 0 28 25 47.1698 SPINK5 0 genome.wustl.edu 37 5 147499875 147499875 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 147499875 147499875 A - DEL SPINK5 ENST00000359874 human ensembl 74_37 +1 known frame_shift_del c.2459 p.K823fs 0.998 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 17 0 0 4 4 50 SLC6A7 0 genome.wustl.edu 37 5 149580755 149580755 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 149580755 149580755 C - DEL SLC6A7 ENST00000230671 human ensembl 74_37 +1 known frame_shift_del c.827 p.Q278fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 78 0 0 38 24 38.7097 MIR1303 0 genome.wustl.edu 37 5 154065370 154065370 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 154065370 154065370 T - DEL MIR1303 ENST00000408625 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR1303 HGNC ENSG00000221552 38 0 0 21 14 40 LOC101928649 0 genome.wustl.edu 37 5 180684515 180684516 + RNA INS - - T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 180684515 180684516 - T INS LOC101928649 ENST00000417281 human ensembl 74_37 +1 known rna NULL NULL 0.030:0.042 - - - no_errors CTC-338M12.4 Clone_based_vega_gene ENSG00000233937 28 0 0 22 12 35.2941 PDZD2 0 genome.wustl.edu 37 5 31799656 31799657 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 31799656 31799657 - G INS PDZD2 ENST00000282493 human ensembl 74_37 +1 known frame_shift_ins c.301_302 p.K104fs 1.000:1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 91 0 0 85 32 27.3504 NIPBL 0 genome.wustl.edu 37 5 36995693 36995693 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 36995693 36995693 T - DEL NIPBL ENST00000503274 human ensembl 74_37 +1 known rna NULL NULL 0.879 - - - no_errors NIPBL HGNC ENSG00000164190 29 0 0 19 12 38.7097 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 161 0 0 63 34 35.0515 ASCC3 0 genome.wustl.edu 37 6 101296336 101296336 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 101296336 101296336 A - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.489 p.F163fs 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 67 0 0 37 13 26 TRDN 0 genome.wustl.edu 37 6 123759209 123759209 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 123759209 123759209 T - DEL TRDN ENST00000398178 human ensembl 74_37 -1 known frame_shift_del c.1050 p.E351fs 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 11 0 0 7 4 36.3636 HEY2 0 genome.wustl.edu 37 6 126080802 126080802 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 126080802 126080802 C - DEL HEY2 ENST00000368364 human ensembl 74_37 +1 known frame_shift_del c.868 p.P291fs 0.877 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 175 0 0 195 125 39.0625 ENSG00000227678 0 genome.wustl.edu 37 6 130454856 130454856 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 130454856 130454856 T - DEL ENSG00000227678 ENST00000415964 human ensembl 74_37 -1 known rna NULL NULL 0.125 - - - no_errors RP11-73O6.3 Clone_based_vega_gene ENSG00000227678 22 0 0 7 4 36.3636 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 51 0 0 16 9 36 WTAP 0 genome.wustl.edu 37 6 160163106 160163106 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 160163106 160163106 T - DEL WTAP ENST00000462110 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors WTAP HGNC ENSG00000146457 29 0 0 16 6 27.2727 TCP1 0 genome.wustl.edu 37 6 160208919 160208920 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 160208919 160208920 - A INS TCP1 ENST00000538530 human ensembl 74_37 -1 known frame_shift_ins c.166_165 p.P55fs 0.000:0.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors TCP1 HGNC ENSG00000120438 63 0 0 25 16 39.0244 QKI 0 genome.wustl.edu 37 6 163899919 163899920 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 163899919 163899920 - A INS QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_ins c.393_394 p.E134fs 1.000:1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 70 0 0 49 23 31.9444 GABBR1 0 genome.wustl.edu 37 6 29577144 29577144 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 29577144 29577144 G - DEL GABBR1 ENST00000377034 human ensembl 74_37 -1 known frame_shift_del c.1721 p.P574fs 1.000 superfamily_Peripla_BP_I 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 44 0 0 35 10 22.2222 EHMT2 0 genome.wustl.edu 37 6 31864763 31864763 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 31864763 31864763 C - DEL EHMT2 ENST00000395728 human ensembl 74_37 -1 known frame_shift_del c.217 p.E73fs 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 105 0 0 91 47 34.058 GPSM3 0 genome.wustl.edu 37 6 32160020 32160020 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 32160020 32160020 G - DEL GPSM3 ENST00000375040 human ensembl 74_37 -1 known frame_shift_del c.50 p.P17fs 0.086 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 33 0 0 27 19 41.3043 GLTSCR1L 0 genome.wustl.edu 37 6 42832627 42832627 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 42832627 42832627 A - DEL GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known frame_shift_del c.2683 p.T897fs 1.000 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 54 0 0 38 14 26.9231 CYB5R4 0 genome.wustl.edu 37 6 84634230 84634231 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 6 84634230 84634231 - A INS CYB5R4 ENST00000369681 human ensembl 74_37 +1 known frame_shift_ins c.733_734 p.E248fs 0.390:0.868 superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5R4 HGNC ENSG00000065615 72 0 0 32 24 42.8571 MUC17 0 genome.wustl.edu 37 7 100676652 100676654 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 100676652 100676654 CTC - DEL MUC17 ENST00000306151 human ensembl 74_37 +1 known in_frame_del c.1955_1957 p.P653in_frame_del 0.012:0.002:0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 525 0 0 253 106 29.5265 RELN 0 genome.wustl.edu 37 7 103301976 103301977 + Splice_Site INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 103301976 103301977 - A INS RELN ENST00000424685 human ensembl 74_37 -1 known splice_site_ins c.1290-3_1290-2 e12-2 0.999:0.009 - - - no_errors RELN HGNC ENSG00000189056 37 0 0 24 8 25 CPA4 0 genome.wustl.edu 37 7 129950720 129950720 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 129950720 129950720 A - DEL CPA4 ENST00000222482 human ensembl 74_37 +1 known frame_shift_del c.887 p.K297fs 0.007 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC ENSG00000128510 122 0 0 125 45 26.4706 ARHGEF35 0 genome.wustl.edu 37 7 143884068 143884068 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 143884068 143884068 A - DEL ARHGEF35 ENST00000378115 human ensembl 74_37 -1 known frame_shift_del c.1409 p.L470fs 0.001 NULL NULL - no_errors ARHGEF35 HGNC ENSG00000213214 32 0 0 19 8 29.6296 SSPO 0 genome.wustl.edu 37 7 149502564 149502564 + RNA DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 149502564 149502564 G - DEL SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors SSPO HGNC ENSG00000197558 45 0 0 51 6 10.5263 KMT2C 0 genome.wustl.edu 37 7 151845524 151845524 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 151845524 151845524 A - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.13659 p.F4553fs 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 151 0 0 72 40 35.7143 RAPGEF5 0 genome.wustl.edu 37 7 22197474 22197474 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 22197474 22197474 T - DEL RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known frame_shift_del c.1097 p.K366fs 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 35 0 0 17 14 45.1613 ENSG00000225792 0 genome.wustl.edu 37 7 26411946 26411946 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 26411946 26411946 A - DEL ENSG00000225792 ENST00000451368 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC004540.4 Clone_based_vega_gene ENSG00000225792 22 0 0 8 6 42.8571 GARS 0 genome.wustl.edu 37 7 30634583 30634585 + In_Frame_Del DEL CTG CTG - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 30634583 30634585 CTG - DEL GARS ENST00000389266 human ensembl 74_37 +1 known in_frame_del c.46_48 p.L19in_frame_del 0.090:0.073:0.025 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly - no_errors GARS HGNC ENSG00000106105 11 0 0 13 2 13.3333 POLM 0 genome.wustl.edu 37 7 44120414 44120414 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 44120414 44120414 G - DEL POLM ENST00000242248 human ensembl 74_37 -1 known frame_shift_del c.290 p.P97fs 0.047 superfamily_BRCT_dom,pirsf_TdT/Mu,pfscan_BRCT_dom pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 115 0 0 82 43 34.4 CASD1 0 genome.wustl.edu 37 7 94174999 94174999 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 94174999 94174999 A - DEL CASD1 ENST00000297273 human ensembl 74_37 +1 known frame_shift_del c.1619 p.A543fs 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 35 0 0 16 7 30.4348 TAF6 0 genome.wustl.edu 37 7 99706154 99706155 + Frame_Shift_Del DEL CA CA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 7 99706154 99706155 CA - DEL TAF6 ENST00000344095 human ensembl 74_37 -1 known frame_shift_del c.1294_1293 p.A432fs 1.000:1.000 NULL pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 90 0 0 77 48 38.4 VPS13B 0 genome.wustl.edu 37 8 100654474 100654474 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 100654474 100654474 A - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.5731 p.I1913fs 0.452 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 149 0 0 143 25 14.881 POLR2K 0 genome.wustl.edu 37 8 101164033 101164033 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 101164033 101164033 T - DEL POLR2K ENST00000519765 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors POLR2K HGNC ENSG00000147669 24 0 0 20 9 31.0345 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 93 0 0 114 79 40.9326 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 28 0 0 38 9 19.1489 AARD 0 genome.wustl.edu 37 8 117950510 117950511 + Frame_Shift_Del DEL AG AG - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 117950510 117950511 AG - DEL AARD ENST00000378279 human ensembl 74_37 +1 known frame_shift_del c.28_29 p.R12fs 0.001:0.002 NULL NULL - no_errors AARD HGNC ENSG00000205002 29 0 0 65 15 18.75 TATDN1 0 genome.wustl.edu 37 8 125500846 125500847 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 125500846 125500847 - A INS TATDN1 ENST00000276692 human ensembl 74_37 -1 known frame_shift_ins c.883_882 p.P294fs 1.000:1.000 pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN1 HGNC ENSG00000147687 39 0 0 39 9 18.75 ENSG00000223697 0 genome.wustl.edu 37 8 133854715 133854715 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 133854715 133854715 T - DEL ENSG00000223697 ENST00000608375 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors AF230666.2 Clone_based_vega_gene ENSG00000223697 17 0 0 11 17 60.7143 ZC3H3 0 genome.wustl.edu 37 8 144620311 144620311 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 144620311 144620311 G - DEL ZC3H3 ENST00000262577 human ensembl 74_37 -1 known frame_shift_del c.1226 p.P409fs 0.026 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 77 0 0 139 11 7.33333 HSF1 0 genome.wustl.edu 37 8 145535876 145535876 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 145535876 145535876 C - DEL HSF1 ENST00000528838 human ensembl 74_37 +1 known frame_shift_del c.1088 p.P365fs 0.002 pfam_Vert_HSTF_C pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF1 HGNC ENSG00000185122 19 0 0 41 8 16.3265 DGAT1 0 genome.wustl.edu 37 8 145540341 145540341 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 145540341 145540341 A - DEL DGAT1 ENST00000332324 human ensembl 74_37 -1 known frame_shift_del c.1343 p.F448fs 0.999 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 19 0 0 35 9 20.4545 TONSL 0 genome.wustl.edu 37 8 145660453 145660453 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 145660453 145660453 C - DEL TONSL ENST00000409379 human ensembl 74_37 -1 known frame_shift_del c.2953 p.A985fs 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 15 0 0 29 7 19.4444 KIFC2 0 genome.wustl.edu 37 8 145692659 145692659 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 145692659 145692659 G - DEL KIFC2 ENST00000301332 human ensembl 74_37 +1 known frame_shift_del c.404 p.R137fs 0.026 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 90 0 0 164 48 22.6415 SLC7A2 0 genome.wustl.edu 37 8 17402081 17402081 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 17402081 17402081 T - DEL SLC7A2 ENST00000004531 human ensembl 74_37 +1 known frame_shift_del c.618 p.F208fs 0.996 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 36 0 0 48 11 18.6441 ADAM28 0 genome.wustl.edu 37 8 24188782 24188783 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 24188782 24188783 - A INS ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_ins c.1223_1224 p.I409fs 0.920:0.071 pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 67 0 0 89 19 17.5926 ADAM7 0 genome.wustl.edu 37 8 24350675 24350675 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 24350675 24350675 T - DEL ADAM7 ENST00000175238 human ensembl 74_37 +1 known frame_shift_del c.1775 p.L594fs 0.006 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 41 0 0 54 13 19.403 NRG1 0 genome.wustl.edu 37 8 32607050 32607050 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 32607050 32607050 T - DEL NRG1 ENST00000523681 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NRG1 HGNC ENSG00000157168 56 0 0 92 18 16.3636 SOX17 0 genome.wustl.edu 37 8 55372288 55372288 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 55372288 55372288 C - DEL SOX17 ENST00000297316 human ensembl 74_37 +1 known frame_shift_del c.978 p.P328fs 0.981 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 12 0 0 18 8 30.7692 SULF1 0 genome.wustl.edu 37 8 70488373 70488373 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 70488373 70488373 C - DEL SULF1 ENST00000260128 human ensembl 74_37 +1 known frame_shift_del c.341 p.S116fs 0.999 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 62 0 0 78 15 16.129 SLCO5A1 0 genome.wustl.edu 37 8 70585215 70585215 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 70585215 70585215 T - DEL SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known frame_shift_del c.2436 p.I814fs 0.779 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 65 0 0 141 34 19.4286 IMPA1 0 genome.wustl.edu 37 8 82588516 82588516 + Splice_Site DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 82588516 82588516 T - DEL IMPA1 ENST00000449740 human ensembl 74_37 -1 known splice_site_del c.480-2 e5-2 0.993 - - - no_errors IMPA1 HGNC ENSG00000133731 34 0 0 15 2 11.7647 ENSG00000253722 0 genome.wustl.edu 37 8 94745548 94745548 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 94745548 94745548 A - DEL ENSG00000253722 ENST00000517998 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-10N23.4 Clone_based_vega_gene ENSG00000253722 9 0 0 11 10 47.619 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 55 0 0 81 21 20.5882 SNORA72 0 genome.wustl.edu 37 8 99054837 99054838 + RNA DEL AA AA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 8 99054837 99054838 AA - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.049:0.047 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 55 0 0 51 27 34.6154 COL15A1 0 genome.wustl.edu 37 9 101816906 101816906 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 101816906 101816906 A - DEL COL15A1 ENST00000375001 human ensembl 74_37 +1 known frame_shift_del c.2999 p.G1002fs 1.000 superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 29 0 0 14 6 30 RALGDS 0 genome.wustl.edu 37 9 135981349 135981351 + In_Frame_Del DEL GTT GTT - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 135981349 135981351 GTT - DEL RALGDS ENST00000542690 human ensembl 74_37 -1 known in_frame_del c.1785_1783 p.N595in_frame_del 1.000:1.000:1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 33 0 0 16 8 33.3333 PPP1R26 0 genome.wustl.edu 37 9 138379043 138379043 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 138379043 138379043 G - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.2687 p.V898fs 0.002 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 85 0 0 69 51 42.5 DENND4C 0 genome.wustl.edu 37 9 19324482 19324482 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 19324482 19324482 T - DEL DENND4C ENST00000602925 human ensembl 74_37 +1 known frame_shift_del c.1930 p.F645fs 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 99 0 0 78 28 26.4151 C9orf131 0 genome.wustl.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 35043650 35043650 C - DEL C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_del c.1024 p.C344fs 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 268 0 0 247 92 27.1386 TESK1 0 genome.wustl.edu 37 9 35608960 35608960 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 9 35608960 35608960 C - DEL TESK1 ENST00000336395 human ensembl 74_37 +1 known frame_shift_del c.1102 p.N370fs 0.728 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 118 0 0 82 43 34.4 RNF128 0 genome.wustl.edu 37 X 106016247 106016247 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 106016247 106016247 A - DEL RNF128 ENST00000255499 human ensembl 74_37 +1 known frame_shift_del c.589 p.K198fs 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 133 0 0 60 40 40 UPF3B 0 genome.wustl.edu 37 X 118977168 118977168 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 118977168 118977168 T - DEL UPF3B ENST00000276201 human ensembl 74_37 -1 known frame_shift_del c.566 p.N189fs 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 90 0 0 46 25 35.2113 RBMX2 0 genome.wustl.edu 37 X 129536209 129536209 + RNA DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 129536209 129536209 C - DEL RBMX2 ENST00000469953 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RBMX2 HGNC ENSG00000134597 15 0 0 13 11 45.8333 RBMX 0 genome.wustl.edu 37 X 135961586 135961587 + Frame_Shift_Del DEL TG TG - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 135961586 135961587 TG - DEL RBMX ENST00000320676 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 96 0 0 77 14 15.3846 MAGEC1 0 genome.wustl.edu 37 X 140993808 140993810 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 140993808 140993810 CTC - DEL MAGEC1 ENST00000285879 human ensembl 74_37 +1 known in_frame_del c.618_620 p.S208in_frame_del 0.990:0.989:0.985 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 378 0 0 195 38 16.309 DMD 0 genome.wustl.edu 37 X 33229458 33229458 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 33229458 33229458 A - DEL DMD ENST00000463609 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors DMD HGNC ENSG00000198947 22 0 0 12 9 42.8571 WDR13 0 genome.wustl.edu 37 X 48457035 48457036 + RNA DEL CC CC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 48457035 48457036 CC - DEL WDR13 ENST00000479279 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WDR13 HGNC ENSG00000101940 14 0 0 13 7 35 IQSEC2 0 genome.wustl.edu 37 X 53285127 53285127 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 53285127 53285127 G - DEL IQSEC2 ENST00000396435 human ensembl 74_37 -1 known frame_shift_del c.854 p.P285fs 0.989 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 20 0 0 9 4 30.7692 UBQLN2 0 genome.wustl.edu 37 X 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 56591874 56591874 C - DEL UBQLN2 ENST00000338222 human ensembl 74_37 +1 known frame_shift_del c.1568 p.P525fs 0.175 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 10 0 0 13 6 31.5789 ARHGEF9 0 genome.wustl.edu 37 X 62974289 62974289 + RNA DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 62974289 62974289 T - DEL ARHGEF9 ENST00000495564 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ARHGEF9 HGNC ENSG00000131089 27 0 0 16 4 20 NLGN3 0 genome.wustl.edu 37 X 70390033 70390034 + RNA DEL AC AC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 70390033 70390034 AC - DEL NLGN3 ENST00000476589 human ensembl 74_37 +1 known rna NULL NULL 0.115:0.187 - - - no_errors NLGN3 HGNC ENSG00000196338 15 0 0 22 5 18.5185 XIST 0 genome.wustl.edu 37 X 73071941 73071942 + RNA DEL AA AA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 73071941 73071942 AA - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.531:0.460 - - - no_errors XIST HGNC ENSG00000229807 14 0 0 9 3 25 ABCB7 0 genome.wustl.edu 37 X 74295434 74295434 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 74295434 74295434 A - DEL ABCB7 ENST00000253577 human ensembl 74_37 -1 known frame_shift_del c.621 p.F207fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB7 HGNC ENSG00000131269 41 0 0 13 13 50 HMGN5 0 genome.wustl.edu 37 X 80377176 80377176 + RNA DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 80377176 80377176 A - DEL HMGN5 ENST00000491275 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HMGN5 HGNC ENSG00000198157 11 0 0 5 4 44.4444 PCDH19 0 genome.wustl.edu 37 X 99662505 99662505 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 X 99662505 99662505 G - DEL PCDH19 ENST00000373034 human ensembl 74_37 -1 known frame_shift_del c.1091 p.P364fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 67 0 0 65 45 40.9091