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 UBE4B 0 genome.wustl.edu 37 1 10231281 10231281 + Missense_Mutation SNP A A C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 10231281 10231281 A C SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.3419 p.N1140T 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 298 0 0 179 72 28.6853 NTNG1 0 genome.wustl.edu 37 1 108023372 108023372 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 108023372 108023372 C T SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known silent c.1530 p.S510 0.005 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 10 0 0 4 2 33.3333 CELSR2 0 genome.wustl.edu 37 1 109792844 109792844 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 109792844 109792844 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.143 p.S48L 0.008 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 CELSR2 HGNC ENSG00000143126 48 0 0 45 23 33.8235 GPR61 0 genome.wustl.edu 37 1 110086921 110086921 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 110086921 110086921 T C SNP GPR61 ENST00000404129 human ensembl 74_37 +1 known missense c.1277 p.L426P 1.000 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR61 HGNC ENSG00000156097 44 0 0 39 14 26.4151 GNAT2 0 genome.wustl.edu 37 1 110146144 110146144 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 110146144 110146144 C T SNP GNAT2 ENST00000351050 human ensembl 74_37 -1 known silent c.897 p.A299 0.997 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I 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 GNAT2 HGNC ENSG00000134183 204 0 0 134 31 18.7879 LAMTOR5 0 genome.wustl.edu 37 1 110944145 110944145 + Nonstop_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 110944145 110944145 T C SNP LAMTOR5 ENST00000256644 human ensembl 74_37 -1 known nonstop c.522 p.*174W 0.984 NULL NULL - no_errors LAMTOR5 HGNC ENSG00000134248 88 0 0 68 27 28.4211 AP4B1 0 genome.wustl.edu 37 1 114438321 114438321 + RNA SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 114438321 114438321 A G SNP AP4B1 ENST00000462591 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP4B1 HGNC ENSG00000134262 49 0 0 38 17 30.9091 CSDE1 0 genome.wustl.edu 37 1 115263163 115263163 + Missense_Mutation SNP A A T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 115263163 115263163 A T SNP CSDE1 ENST00000369530 human ensembl 74_37 -1 known missense c.2094 p.D698E 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 156 0 0 103 40 27.972 PTCHD2 0 genome.wustl.edu 37 1 11596562 11596562 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 11596562 11596562 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.3998 p.T1333M 1.000 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 63 0 0 51 20 28.169 ATP1A1 0 genome.wustl.edu 37 1 116926744 116926744 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 116926744 116926744 A G SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known missense c.121 p.M41V 0.860 tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 63 0 0 48 24 33.3333 SCNN1D 0 genome.wustl.edu 37 1 1225650 1225650 + Splice_Site SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 1225650 1225650 G T SNP SCNN1D ENST00000379116 human ensembl 74_37 +1 known splice_site c.1663-1 e13-1 1.000 - - - no_errors SCNN1D HGNC ENSG00000162572 44 0 0 26 14 35 GLTPD1 0 genome.wustl.edu 37 1 1262694 1262694 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 1262694 1262694 C T SNP GLTPD1 ENST00000343938 human ensembl 74_37 +1 known missense c.196 p.R66C 0.010 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom - no_errors GLTPD1 HGNC ENSG00000224051 45 0 0 27 11 28.9474 TAS1R3 0 genome.wustl.edu 37 1 1267559 1267559 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 1267559 1267559 C A SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known missense c.648 p.D216E 0.176 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 19 0 0 9 2 18.1818 PRAMEF7 0 genome.wustl.edu 37 1 12979762 12979762 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 12979762 12979762 C T SNP PRAMEF7 ENST00000330881 human ensembl 74_37 +1 known silent c.954 p.I318 0.007 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 179 0 0 132 45 25.4237 ADAMTSL4 0 genome.wustl.edu 37 1 150531071 150531071 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 150531071 150531071 C A SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known silent c.2574 p.A858 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 69 0 0 56 17 23.2877 PRUNE 0 genome.wustl.edu 37 1 150990325 150990325 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 150990325 150990325 C T SNP PRUNE ENST00000271620 human ensembl 74_37 +1 known missense c.77 p.A26V 1.000 pfam_Pesterase_RecJ pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC ENSG00000143363 155 0 0 106 35 24.8227 TCHH 0 genome.wustl.edu 37 1 152082655 152082655 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 152082655 152082655 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.3038 p.R1013H 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 247 1 0.403226 157 58 26.9767 FLG 0 genome.wustl.edu 37 1 152283237 152283237 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 152283237 152283237 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.4125 p.H1375 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 928 0 0 580 240 29.2683 FLG 0 genome.wustl.edu 37 1 152286331 152286331 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 152286331 152286331 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1031 p.A344V 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 522 1 0.191205 322 130 28.7611 LCE5A 0 genome.wustl.edu 37 1 152484105 152484105 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 152484105 152484105 G A SNP LCE5A ENST00000334269 human ensembl 74_37 +1 known missense c.95 p.C32Y 0.081 NULL NULL - no_errors LCE5A HGNC ENSG00000186207 103 0 0 69 27 28.125 INTS3 0 genome.wustl.edu 37 1 153732007 153732007 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 153732007 153732007 T C SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known silent c.1155 p.N385 0.997 pfam_Int_cplx_su3 pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 327 0 0 208 95 31.3531 DENND4B 0 genome.wustl.edu 37 1 153915482 153915482 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 153915482 153915482 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.442 p.R148W 1.000 pfscan_uDENN_dom 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 DENND4B HGNC ENSG00000198837 33 0 0 32 15 31.9149 FLAD1 0 genome.wustl.edu 37 1 154960591 154960591 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 154960591 154960591 A G SNP FLAD1 ENST00000405236 human ensembl 74_37 +1 known missense c.86 p.Q29R 1.000 pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom - no_errors FLAD1 HGNC ENSG00000160688 225 0 0 197 75 27.5735 MUC1 0 genome.wustl.edu 37 1 155161828 155161828 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 155161828 155161828 G A SNP MUC1 ENST00000368395 human ensembl 74_37 -1 known missense c.305 p.P102L 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC1 HGNC ENSG00000185499 46 0 0 28 16 36.3636 FDPS 0 genome.wustl.edu 37 1 155287966 155287966 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 155287966 155287966 G A SNP FDPS ENST00000356657 human ensembl 74_37 +1 known missense c.568 p.V190M 0.910 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 171 0 0 211 16 7.04846 UBQLN4 0 genome.wustl.edu 37 1 156020296 156020296 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 156020296 156020296 G A SNP UBQLN4 ENST00000368309 human ensembl 74_37 -1 known missense c.527 p.A176V 1.000 NULL pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,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 UBQLN4 HGNC ENSG00000160803 126 0 0 80 45 36 MIB2 0 genome.wustl.edu 37 1 1560532 1560532 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 1560532 1560532 G A SNP MIB2 ENST00000505820 human ensembl 74_37 +1 known missense c.1033 p.G345S 1.000 NULL pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 63 0 0 61 28 31.4607 OR10X1 0 genome.wustl.edu 37 1 158548958 158548958 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 158548958 158548958 G T SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known silent c.732 p.I244 0.583 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 177 0 0 135 64 32.1608 OR10J5 0 genome.wustl.edu 37 1 159505535 159505535 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 159505535 159505535 T C SNP OR10J5 ENST00000334857 human ensembl 74_37 -1 known missense c.263 p.H88R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC ENSG00000184155 164 0 0 134 58 30.2083 KCNJ10 0 genome.wustl.edu 37 1 160011433 160011433 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 160011433 160011433 C T SNP KCNJ10 ENST00000368089 human ensembl 74_37 -1 known missense c.890 p.R297H 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,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_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 35 0 0 50 18 26.4706 IGSF8 0 genome.wustl.edu 37 1 160064939 160064939 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 160064939 160064939 A G SNP IGSF8 ENST00000314485 human ensembl 74_37 -1 known silent c.162 p.Y54 0.976 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF8 HGNC ENSG00000162729 51 0 0 42 13 23.6364 ATP1A4 0 genome.wustl.edu 37 1 160146362 160146362 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 160146362 160146362 C T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.2560 p.R854C 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 61 0 0 37 11 22.9167 SLAMF7 0 genome.wustl.edu 37 1 160722026 160722026 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 160722026 160722026 A G SNP SLAMF7 ENST00000444090 human ensembl 74_37 +1 known missense c.427 p.N143D 0.114 NULL pfam_Ig_V-set - no_errors SLAMF7 HGNC ENSG00000026751 77 0 0 44 32 42.1053 LY9 0 genome.wustl.edu 37 1 160769735 160769735 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 160769735 160769735 G A SNP LY9 ENST00000263285 human ensembl 74_37 +1 known missense c.317 p.R106Q 0.002 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors LY9 HGNC ENSG00000122224 192 1 0.518135 140 56 28.5714 NDUFS2 0 genome.wustl.edu 37 1 161183934 161183934 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 161183934 161183934 C T SNP NDUFS2 ENST00000465923 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors NDUFS2 HGNC ENSG00000158864 87 0 0 45 15 25 OLFML2B 0 genome.wustl.edu 37 1 161989766 161989766 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 161989766 161989766 G T SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known silent c.381 p.P127 1.000 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 35 0 0 57 25 30.4878 C1orf111 0 genome.wustl.edu 37 1 162343898 162343898 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 162343898 162343898 G T SNP C1orf111 ENST00000367935 human ensembl 74_37 -1 known silent c.726 p.A242 0.994 NULL NULL - no_errors C1orf111 HGNC ENSG00000171722 322 1 0.309598 210 84 28.5714 EPHA2 0 genome.wustl.edu 37 1 16458607 16458607 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 16458607 16458607 G A SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known silent c.2277 p.G759 0.998 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 112 0 0 96 34 26.1538 LOC440700 0 genome.wustl.edu 37 1 165678737 165678737 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 165678737 165678737 C T SNP LOC440700 ENST00000400982 human ensembl 74_37 +1 known rna NULL NULL 0.163 - - - no_errors RP11-466F5.6 Clone_based_vega_gene ENSG00000215838 35 0 0 23 14 37.8378 SLC19A2 0 genome.wustl.edu 37 1 169446628 169446628 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 169446628 169446628 T C SNP SLC19A2 ENST00000236137 human ensembl 74_37 -1 known missense c.572 p.N191S 0.875 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC ENSG00000117479 82 0 0 59 30 33.7079 SELP 0 genome.wustl.edu 37 1 169560682 169560682 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 169560682 169560682 C A SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.2420 p.C807F 0.700 NULL pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 106 0 0 70 27 27.8351 GORAB 0 genome.wustl.edu 37 1 170508634 170508634 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 170508634 170508634 C A SNP GORAB ENST00000367763 human ensembl 74_37 +1 known silent c.420 p.S140 0.839 NULL pfam_Transcript_act - no_errors GORAB HGNC ENSG00000120370 185 1 0.537634 114 49 30.0613 PRRX1 0 genome.wustl.edu 37 1 170633439 170633439 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 170633439 170633439 C T SNP PRRX1 ENST00000239461 human ensembl 74_37 +1 known missense c.80 p.T27I 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX1 HGNC ENSG00000116132 16 0 0 13 3 18.75 TNR 0 genome.wustl.edu 37 1 175331848 175331848 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 175331848 175331848 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.2805 p.S935 0.712 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 155 0 0 88 42 32.3077 PAPPA2 0 genome.wustl.edu 37 1 176564398 176564398 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 176564398 176564398 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.1658 p.A553V 0.587 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 60 0 0 59 17 22.3684 CACNA1E 0 genome.wustl.edu 37 1 181706711 181706711 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 181706711 181706711 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.3473 p.C1158Y 1.000 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 107 0 0 86 29 25.2174 SHCBP1L 0 genome.wustl.edu 37 1 182908622 182908622 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 182908622 182908622 A G SNP SHCBP1L ENST00000367547 human ensembl 74_37 -1 known silent c.837 p.L279 0.992 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 55 0 0 33 20 37.7358 LAMC2 0 genome.wustl.edu 37 1 183190045 183190045 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 183190045 183190045 C T SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known missense c.589 p.R197C 0.702 superfamily_Growth_fac_rcpt_N_dom pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 116 0 0 125 8 6.01504 LAMC2 0 genome.wustl.edu 37 1 183206601 183206601 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 183206601 183206601 G A SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known missense c.2716 p.A906T 0.480 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 71 0 0 56 20 26.3158 HMCN1 0 genome.wustl.edu 37 1 186037087 186037087 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 186037087 186037087 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known nonsense c.7827 p.W2609* 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 249 0 0 186 75 28.7356 PRG4 0 genome.wustl.edu 37 1 186277106 186277106 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 186277106 186277106 C T SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.2255 p.T752I 0.006 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 227 0 0 135 48 26.2295 RGS1 0 genome.wustl.edu 37 1 192545020 192545020 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 192545020 192545020 T G SNP RGS1 ENST00000367459 human ensembl 74_37 +1 known missense c.98 p.L33R 0.975 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS1 HGNC ENSG00000090104 101 0 0 79 32 28.8288 B3GALT2 0 genome.wustl.edu 37 1 193149798 193149798 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 193149798 193149798 G A SNP B3GALT2 ENST00000367434 human ensembl 74_37 -1 known missense c.895 p.P299S 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 147 0 0 103 49 32.2368 UBR4 0 genome.wustl.edu 37 1 19431150 19431150 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 19431150 19431150 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.12656 p.R4219H 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 40 0 0 26 12 31.5789 UBR4 0 genome.wustl.edu 37 1 19481550 19481550 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 19481550 19481550 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.6320 p.A2107V 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 183 0 0 117 56 32.3699 EMC1 0 genome.wustl.edu 37 1 19553887 19553887 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 19553887 19553887 C T SNP EMC1 ENST00000477853 human ensembl 74_37 -1 known missense c.2122 p.V708I 0.996 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam - no_errors EMC1 HGNC ENSG00000127463 64 0 0 51 19 27.1429 C1orf106 0 genome.wustl.edu 37 1 200880697 200880697 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 200880697 200880697 C T SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known missense c.1331 p.P444L 0.705 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 158 1 0.628931 87 35 28.6885 CACNA1S 0 genome.wustl.edu 37 1 201039450 201039450 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 201039450 201039450 G A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known silent c.2310 p.A770 0.850 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 163 0 0 95 48 33.5664 ELF3 0 genome.wustl.edu 37 1 201984366 201984366 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 201984366 201984366 G T SNP ELF3 ENST00000359651 human ensembl 74_37 +1 known missense c.1031 p.R344L 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF3 HGNC ENSG00000163435 76 0 0 48 16 25 MYBPH 0 genome.wustl.edu 37 1 203138136 203138136 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 203138136 203138136 G T SNP MYBPH ENST00000255416 human ensembl 74_37 -1 known missense c.1315 p.L439I 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPH HGNC ENSG00000133055 255 0 0 175 68 27.9835 PLEKHA6 0 genome.wustl.edu 37 1 204214839 204214839 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 204214839 204214839 G A SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known missense c.1936 p.R646W 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 83 0 0 88 20 18.5185 PIK3C2B 0 genome.wustl.edu 37 1 204438816 204438816 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 204438816 204438816 G T SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known silent c.115 p.R39 1.000 NULL 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 77 0 0 65 27 29.3478 PIGR 0 genome.wustl.edu 37 1 207107960 207107960 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 207107960 207107960 G A SNP PIGR ENST00000356495 human ensembl 74_37 -1 known nonsense c.1510 p.Q504* 0.003 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 123 0 0 120 41 25.4658 PLXNA2 0 genome.wustl.edu 37 1 208218053 208218053 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 208218053 208218053 G A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.3674 p.S1225L 0.999 superfamily_Ig_E-set,smart_IPT 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 39 0 0 27 10 27.027 DDOST 0 genome.wustl.edu 37 1 20987835 20987835 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 20987835 20987835 G A SNP DDOST ENST00000375048 human ensembl 74_37 -1 known silent c.60 p.P20 0.000 NULL pfam_WBP1 - no_errors DDOST HGNC ENSG00000244038 20 0 0 13 4 23.5294 ECE1 0 genome.wustl.edu 37 1 21554468 21554468 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 21554468 21554468 C T SNP ECE1 ENST00000374893 human ensembl 74_37 -1 known silent c.1737 p.P579 0.019 pfam_Peptidase_M13_C,prints_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 10 0 0 4 2 33.3333 USH2A 0 genome.wustl.edu 37 1 216052336 216052336 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 216052336 216052336 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.8328 p.L2776 0.017 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 222 0 0 154 58 27.3585 MIA3 0 genome.wustl.edu 37 1 222828037 222828037 + Missense_Mutation SNP A A C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 222828037 222828037 A C SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.4509 p.Q1503H 0.971 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 151 0 0 121 37 23.4177 TLR5 0 genome.wustl.edu 37 1 223285360 223285360 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 223285360 223285360 G A SNP TLR5 ENST00000342210 human ensembl 74_37 -1 known silent c.1014 p.L338 0.502 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 279 0 0 224 87 27.9743 SKI 0 genome.wustl.edu 37 1 2234480 2234480 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 2234480 2234480 G A SNP SKI ENST00000378536 human ensembl 74_37 +1 known missense c.1033 p.A345T 0.030 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 120 0 0 73 37 33.6364 LBR 0 genome.wustl.edu 37 1 225591105 225591105 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 225591105 225591105 C T SNP LBR ENST00000272163 human ensembl 74_37 -1 known missense c.1748 p.R583Q 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 137 0 0 112 48 30 TMEM63A 0 genome.wustl.edu 37 1 226044616 226044616 + Nonsense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 226044616 226044616 C T SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known nonsense c.1479 p.W493* 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 40 0 0 25 10 28.5714 OBSCN 0 genome.wustl.edu 37 1 228444500 228444500 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 228444500 228444500 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.4458 p.S1486 0.036 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 54 0 0 33 16 32.6531 OBSCN 0 genome.wustl.edu 37 1 228538569 228538569 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 228538569 228538569 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.18344 p.R6115Q 0.999 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 51 0 0 42 10 19.2308 GALNT2 0 genome.wustl.edu 37 1 230372168 230372168 + Splice_Site SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 230372168 230372168 T C SNP GALNT2 ENST00000366672 human ensembl 74_37 +1 known splice_site c.541+2 e5+2 1.000 - - - no_errors GALNT2 HGNC ENSG00000143641 115 0 0 69 36 34.2857 EPHB2 0 genome.wustl.edu 37 1 23111124 23111124 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 23111124 23111124 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.366 p.S122 0.995 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 45 0 0 28 15 34.8837 LUZP1 0 genome.wustl.edu 37 1 23419547 23419547 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 23419547 23419547 C T SNP LUZP1 ENST00000302291 human ensembl 74_37 -1 known missense c.1208 p.R403Q 0.641 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 323 0 0 257 100 28.0112 HEATR1 0 genome.wustl.edu 37 1 236715409 236715409 + Splice_Site SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 236715409 236715409 T C SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known splice_site c.6238-2 e43-2 1.000 - - - no_errors HEATR1 HGNC ENSG00000119285 263 1 0.378788 186 60 24.3902 OPN3 0 genome.wustl.edu 37 1 241767854 241767854 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 241767854 241767854 A G SNP OPN3 ENST00000366554 human ensembl 74_37 -1 known missense c.401 p.V134A 0.627 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OPN3 HGNC ENSG00000054277 42 0 0 27 9 25 MYOM3 0 genome.wustl.edu 37 1 24406652 24406652 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 24406652 24406652 G A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.2443 p.R815W 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 89 0 0 74 25 25.2525 GRHL3 0 genome.wustl.edu 37 1 24669404 24669404 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 24669404 24669404 G A SNP GRHL3 ENST00000350501 human ensembl 74_37 +1 known silent c.1308 p.S436 0.000 NULL pfam_CP2,superfamily_C2_dom - no_errors GRHL3 HGNC ENSG00000158055 182 0 0 131 54 29.1892 FGR 0 genome.wustl.edu 37 1 27943449 27943449 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 27943449 27943449 G A SNP FGR ENST00000374003 human ensembl 74_37 -1 known missense c.601 p.R201C 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 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 FGR HGNC ENSG00000000938 226 0 0 167 73 30.4167 PEF1 0 genome.wustl.edu 37 1 32096305 32096305 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 32096305 32096305 T G SNP PEF1 ENST00000373703 human ensembl 74_37 -1 known missense c.764 p.E255A 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors PEF1 HGNC ENSG00000162517 58 0 0 49 20 28.9855 TFAP2E 0 genome.wustl.edu 37 1 36056243 36056243 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 36056243 36056243 G A SNP TFAP2E ENST00000373235 human ensembl 74_37 +1 known missense c.913 p.V305M 0.882 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2E HGNC ENSG00000116819 40 0 0 34 11 24.4444 PSMB2 0 genome.wustl.edu 37 1 36074928 36074928 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 36074928 36074928 C T SNP PSMB2 ENST00000373237 human ensembl 74_37 -1 known missense c.367 p.A123T 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_errors PSMB2 HGNC ENSG00000126067 93 0 0 60 33 35.4839 THRAP3 0 genome.wustl.edu 37 1 36769406 36769406 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 36769406 36769406 C T SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known missense c.2656 p.R886C 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 119 0 0 84 31 26.9565 CCDC27 0 genome.wustl.edu 37 1 3688087 3688087 + Nonstop_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 3688087 3688087 G T SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known nonstop c.1971 p.*657Y 0.680 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 76 0 0 63 18 22.2222 GRIK3 0 genome.wustl.edu 37 1 37356650 37356650 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 37356650 37356650 C T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.163 p.A55T 0.999 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 351 0 0 252 105 29.4118 EPHA10 0 genome.wustl.edu 37 1 38227403 38227403 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 38227403 38227403 G A SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.524 p.T175I 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,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 69 0 0 59 22 27.1605 SLC6A9 0 genome.wustl.edu 37 1 44463398 44463398 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 44463398 44463398 G A SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.1940 p.A647V 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 178 0 0 138 45 24.5902 RNF220 0 genome.wustl.edu 37 1 45115605 45115605 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 45115605 45115605 C T SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known silent c.1605 p.C535 0.948 pfscan_Znf_RING superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 101 0 0 89 28 23.9316 TMEM53 0 genome.wustl.edu 37 1 45120473 45120473 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 45120473 45120473 G T SNP TMEM53 ENST00000372237 human ensembl 74_37 -1 known missense c.592 p.H198N 1.000 pfam_DUF829_TMEM53 pfam_DUF829_TMEM53 - no_errors TMEM53 HGNC ENSG00000126106 55 0 0 72 6 7.69231 HPDL 0 genome.wustl.edu 37 1 45793585 45793585 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 45793585 45793585 C T SNP HPDL ENST00000334815 human ensembl 74_37 +1 known silent c.765 p.G255 0.232 pirsf_4OHPhenylPyrv_dOase pirsf_4OHPhenylPyrv_dOase - no_errors HPDL HGNC ENSG00000186603 128 0 0 114 51 30.9091 SLC5A9 0 genome.wustl.edu 37 1 48698138 48698138 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 48698138 48698138 G A SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known missense c.1072 p.V358I 0.988 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 75 0 0 62 20 24.3902 ORC1 0 genome.wustl.edu 37 1 52850933 52850933 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 52850933 52850933 G A SNP ORC1 ENST00000371566 human ensembl 74_37 -1 known silent c.1483 p.L495 1.000 superfamily_P-loop_NTPase pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,superfamily_P-loop_NTPase,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 222 0 0 163 61 27.2321 MROH7-TTC4 0 genome.wustl.edu 37 1 55118746 55118746 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 55118746 55118746 G A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known silent c.147 p.L49 0.000 NULL superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 122 0 0 107 45 29.6053 L1TD1 0 genome.wustl.edu 37 1 62675694 62675694 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 62675694 62675694 A G SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known silent c.1248 p.E416 0.000 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 83 0 0 62 5 7.46269 ACOT7 0 genome.wustl.edu 37 1 6393549 6393549 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 6393549 6393549 C T SNP ACOT7 ENST00000377855 human ensembl 74_37 -1 known silent c.528 p.V176 1.000 NULL pfam_Thioestr_supf - no_errors ACOT7 HGNC ENSG00000097021 66 0 0 43 13 23.2143 UBE2U 0 genome.wustl.edu 37 1 64671363 64671363 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 64671363 64671363 G T SNP UBE2U ENST00000371076 human ensembl 74_37 +1 known missense c.108 p.W36C 0.982 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2U HGNC ENSG00000177414 136 0 0 99 35 26.1194 SGIP1 0 genome.wustl.edu 37 1 67207114 67207114 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 67207114 67207114 C T SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.2552 p.A851V 1.000 superfamily_Clathrin_mu_C pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 182 0 0 108 43 28.4768 SLC45A1 0 genome.wustl.edu 37 1 8390958 8390958 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 8390958 8390958 G A SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known missense c.1507 p.E503K 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 133 0 0 74 34 31.4815 TMEM56 0 genome.wustl.edu 37 1 95657379 95657379 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 95657379 95657379 A G SNP TMEM56 ENST00000370203 human ensembl 74_37 +1 novel silent c.747 p.R249 0.001 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TMEM56 HGNC ENSG00000152078 161 0 0 175 10 5.40541 PYROXD2 0 genome.wustl.edu 37 10 100155183 100155183 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 100155183 100155183 G A SNP PYROXD2 ENST00000370575 human ensembl 74_37 -1 known nonsense c.652 p.R218* 0.755 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 193 0 0 157 33 17.3684 HPSE2 0 genome.wustl.edu 37 10 100219428 100219428 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 100219428 100219428 C T SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known missense c.1682 p.R561H 1.000 NULL pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 50 0 0 38 20 34.4828 SEC31B 0 genome.wustl.edu 37 10 102247505 102247505 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 102247505 102247505 C A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known silent c.3408 p.V1136 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 30 0 0 22 6 21.4286 LZTS2 0 genome.wustl.edu 37 10 102763814 102763814 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 102763814 102763814 C T SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known missense c.959 p.S320L 0.575 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 74 0 0 56 28 33.3333 SORCS1 0 genome.wustl.edu 37 10 108389108 108389108 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 108389108 108389108 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.2514 p.G838 0.010 pfam_PKD_dom,superfamily_PKD_dom,pfscan_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 33 0 0 40 9 18.3673 NRAP 0 genome.wustl.edu 37 10 115348747 115348747 + Missense_Mutation SNP G G C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 115348747 115348747 G C SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.5204 p.A1735G 0.888 NULL pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 156 0 0 118 56 32.1839 FAM160B1 0 genome.wustl.edu 37 10 116603550 116603550 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 116603550 116603550 T C SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known silent c.867 p.S289 0.995 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 82 0 0 68 19 21.8391 ADARB2 0 genome.wustl.edu 37 10 1230931 1230931 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 1230931 1230931 C A SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known missense c.1913 p.S638I 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 38 0 0 31 2 6.06061 HTRA1 0 genome.wustl.edu 37 10 124266334 124266334 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 124266334 124266334 G A SNP HTRA1 ENST00000368984 human ensembl 74_37 +1 known missense c.905 p.R302Q 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 85 0 0 68 50 42.3729 LOC399815 0 genome.wustl.edu 37 10 124648172 124648172 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 124648172 124648172 C T SNP LOC399815 ENST00000425266 human ensembl 74_37 +1 putative rna NULL NULL 0.126 - - - no_errors RP11-564D11.3 Clone_based_vega_gene ENSG00000255624 28 0 0 33 4 10.8108 CTBP2 0 genome.wustl.edu 37 10 126691672 126691672 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 126691672 126691672 A G SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.1835 p.V612A 0.998 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 52 0 0 39 18 31.5789 CTBP2 0 genome.wustl.edu 37 10 126716140 126716140 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 126716140 126716140 G A SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known silent c.189 p.P63 0.002 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 73 0 0 54 30 35.7143 MKI67 0 genome.wustl.edu 37 10 129903109 129903109 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 129903109 129903109 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.6995 p.T2332M 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 802 0 0 511 276 35.0699 MGMT 0 genome.wustl.edu 37 10 131334634 131334634 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 131334634 131334634 G A SNP MGMT ENST00000306010 human ensembl 74_37 +1 known missense c.211 p.A71T 0.000 pfam_MethylG_MeTrfase pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd - no_errors MGMT HGNC ENSG00000170430 100 0 0 77 24 23.7624 INPP5A 0 genome.wustl.edu 37 10 134595384 134595384 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 134595384 134595384 G A SNP INPP5A ENST00000368594 human ensembl 74_37 +1 known missense c.1178 p.R393Q 1.000 superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5A HGNC ENSG00000068383 135 0 0 114 30 20.8333 HSPA14 0 genome.wustl.edu 37 10 14890639 14890639 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 14890639 14890639 G A SNP HSPA14 ENST00000378372 human ensembl 74_37 +1 known missense c.253 p.A85T 0.001 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA14 HGNC ENSG00000187522 90 0 0 52 22 29.7297 CACNB2 0 genome.wustl.edu 37 10 18828395 18828395 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 18828395 18828395 C A SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known silent c.1725 p.S575 0.998 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 83 0 0 37 14 27.451 THNSL1 0 genome.wustl.edu 37 10 25313576 25313576 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 25313576 25313576 G A SNP THNSL1 ENST00000376356 human ensembl 74_37 +1 known missense c.1424 p.R475Q 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Shikimate_kinase/TSH1,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_P-loop_NTPase,prints_Shikimate_kinase/TSH1,tigrfam_Thr_synthase_like - no_errors THNSL1 HGNC ENSG00000185875 219 0 0 136 58 29.8969 ZMYND11 0 genome.wustl.edu 37 10 294978 294978 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 294978 294978 C T SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known silent c.1636 p.L546 1.000 NULL pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 98 0 0 70 34 32.6923 KIAA1462 0 genome.wustl.edu 37 10 30315526 30315526 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 30315526 30315526 C T SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.3551 p.S1184N 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 301 0 0 256 70 21.4724 C10orf68 0 genome.wustl.edu 37 10 33137556 33137556 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 33137556 33137556 G A SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.1726 p.V576I 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 171 0 0 115 42 26.7516 ANKRD30A 0 genome.wustl.edu 37 10 37447328 37447328 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 37447328 37447328 A G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.1639 p.N547D 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 260 0 0 169 41 19.5238 ANKRD30A 0 genome.wustl.edu 37 10 37447329 37447329 + Missense_Mutation SNP A A T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 37447329 37447329 A T SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.1640 p.N547I 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 263 0 0 169 41 19.5238 ZNF33B 0 genome.wustl.edu 37 10 43088863 43088863 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 43088863 43088863 A G SNP ZNF33B ENST00000359467 human ensembl 74_37 -1 known missense c.1535 p.L512P 0.256 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 ZNF33B HGNC ENSG00000196693 256 0 0 178 70 28.2258 AKR1C1 0 genome.wustl.edu 37 10 5008192 5008192 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 5008192 5008192 T C SNP AKR1C1 ENST00000380872 human ensembl 74_37 +1 known silent c.171 p.N57 0.993 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC ENSG00000187134 168 0 0 127 65 33.8542 C10orf71 0 genome.wustl.edu 37 10 50530853 50530853 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 50530853 50530853 A G SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known missense c.263 p.Q88R 0.492 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 118 0 0 83 21 20.1923 PCDH15 0 genome.wustl.edu 37 10 55582989 55582989 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 55582989 55582989 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.4497 p.D1499 0.887 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 211 0 0 147 75 33.7838 MYPN 0 genome.wustl.edu 37 10 69959203 69959203 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 69959203 69959203 C A SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.3364 p.L1122M 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,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 MYPN HGNC ENSG00000138347 87 0 0 60 16 21.0526 DNA2 0 genome.wustl.edu 37 10 70191618 70191618 + Splice_Site SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 70191618 70191618 C T SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known splice_site c.2241+1 e13+1 1.000 - - - no_errors DNA2 HGNC ENSG00000138346 340 0 0 250 66 20.8861 STOX1 0 genome.wustl.edu 37 10 70644505 70644505 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 70644505 70644505 G A SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.953 p.R318H 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 147 1 0.675676 138 39 22.0339 PALD1 0 genome.wustl.edu 37 10 72299395 72299395 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 72299395 72299395 C T SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known silent c.1785 p.P595 0.000 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 86 0 0 75 15 16.6667 CAMK2G 0 genome.wustl.edu 37 10 75574930 75574930 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 75574930 75574930 G A SNP CAMK2G ENST00000423381 human ensembl 74_37 -1 known missense c.1610 p.A537V 1.000 pfam_Ca/CaM-dep_prot_kinase-assoc pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2G HGNC ENSG00000148660 50 0 0 41 20 32.7869 ITIH5 0 genome.wustl.edu 37 10 7618675 7618675 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 7618675 7618675 G A SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known silent c.1719 p.I573 0.009 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 50 0 0 39 9 18.75 MAT1A 0 genome.wustl.edu 37 10 82039973 82039973 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 82039973 82039973 G A SNP MAT1A ENST00000372213 human ensembl 74_37 -1 known missense c.505 p.R169C 1.000 pfam_S-AdoMet_synt_central,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC ENSG00000151224 119 1 0.833333 102 29 22.1374 IFIT1 0 genome.wustl.edu 37 10 91162510 91162510 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 91162510 91162510 G A SNP IFIT1 ENST00000371804 human ensembl 74_37 +1 known missense c.478 p.A160T 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1 HGNC ENSG00000185745 182 0 0 163 35 17.6768 BTAF1 0 genome.wustl.edu 37 10 93756173 93756173 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 93756173 93756173 T C SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known silent c.3357 p.S1119 1.000 pfam_HEAT,superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 157 0 0 158 24 13.1868 CYP2C19 0 genome.wustl.edu 37 10 96609804 96609804 + Missense_Mutation SNP C C G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 96609804 96609804 C G SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known missense c.1280 p.P427R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 251 0 0 179 36 16.7442 SORBS1 0 genome.wustl.edu 37 10 97096319 97096319 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 97096319 97096319 C T SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.3598 p.E1200K 0.753 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 114 0 0 58 18 23.6842 PI4K2A 0 genome.wustl.edu 37 10 99422723 99422723 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 99422723 99422723 C T SNP PI4K2A ENST00000370631 human ensembl 74_37 +1 known missense c.982 p.R328W 1.000 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 217 0 0 132 101 43.3476 CRTAC1 0 genome.wustl.edu 37 10 99625339 99625339 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 99625339 99625339 G A SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.1952 p.S651L 0.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 47 0 0 33 18 35.2941 CASP5 0 genome.wustl.edu 37 11 104878019 104878019 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 104878019 104878019 A G SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known missense c.263 p.L88P 0.002 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD 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 229 0 0 152 49 24.3781 ALKBH8 0 genome.wustl.edu 37 11 107427670 107427670 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 107427670 107427670 C T SNP ALKBH8 ENST00000417449 human ensembl 74_37 -1 known silent c.198 p.P66 0.000 NULL pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 123 0 0 87 40 31.4961 DDX10 0 genome.wustl.edu 37 11 108811067 108811067 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 108811067 108811067 G T SNP DDX10 ENST00000322536 human ensembl 74_37 +1 known missense c.2545 p.D849Y 0.994 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 87 0 0 59 6 9.23077 MUC2 0 genome.wustl.edu 37 11 1093743 1093743 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 1093743 1093743 T C SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.5562 p.P1854 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 301 0 0 235 80 25.3968 RBM7 0 genome.wustl.edu 37 11 114278448 114278448 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 114278448 114278448 G T SNP RBM7 ENST00000540163 human ensembl 74_37 +1 known missense c.720 p.R240S 0.237 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM7 HGNC ENSG00000076053 131 0 0 83 28 25.2252 RNF214 0 genome.wustl.edu 37 11 117152818 117152818 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 117152818 117152818 G A SNP RNF214 ENST00000300650 human ensembl 74_37 +1 known missense c.1544 p.G515D 1.000 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 247 0 0 170 81 32.2709 SCN2B 0 genome.wustl.edu 37 11 118038845 118038845 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 118038845 118038845 G A SNP SCN2B ENST00000278947 human ensembl 74_37 -1 known missense c.403 p.R135C 1.000 pfam_Ig_V-set,smart_Ig_sub,prints_Myelin_P0 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors SCN2B HGNC ENSG00000149575 33 0 0 31 12 27.907 CXCR5 0 genome.wustl.edu 37 11 118765004 118765004 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 118765004 118765004 C T SNP CXCR5 ENST00000292174 human ensembl 74_37 +1 known missense c.751 p.R251C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC ENSG00000160683 45 0 0 38 12 24 VPS11 0 genome.wustl.edu 37 11 118951928 118951928 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 118951928 118951928 T C SNP VPS11 ENST00000300793 human ensembl 74_37 +1 known silent c.2562 p.A854 0.227 smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING - no_errors VPS11 HGNC ENSG00000160695 276 0 0 237 75 24.0385 OAF 0 genome.wustl.edu 37 11 120097609 120097609 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 120097609 120097609 G T SNP OAF ENST00000328965 human ensembl 74_37 +1 known missense c.451 p.G151W 1.000 NULL NULL - no_errors OAF HGNC ENSG00000184232 86 0 0 51 22 30.137 BSX 0 genome.wustl.edu 37 11 122848567 122848567 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 122848567 122848567 C T SNP BSX ENST00000343035 human ensembl 74_37 -1 known silent c.492 p.K164 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BSX HGNC ENSG00000188909 77 0 0 57 13 18.5714 OR10S1 0 genome.wustl.edu 37 11 123847892 123847892 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 123847892 123847892 G A SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known silent c.507 p.H169 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 95 0 0 56 22 28.2051 OR10G4 0 genome.wustl.edu 37 11 123886291 123886291 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 123886291 123886291 G A SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.10 p.A4T 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 72 0 0 60 14 18.9189 VWA5A 0 genome.wustl.edu 37 11 123988930 123988930 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 123988930 123988930 G A SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.281 p.G94D 1.000 pfam_VIT,smart_VIT pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 86 0 0 79 32 28.8288 OR8G5 0 genome.wustl.edu 37 11 124135700 124135700 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 124135700 124135700 C T SNP OR8G5 ENST00000524943 human ensembl 74_37 +1 known silent c.978 p.S326 0.988 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G5 HGNC ENSG00000255298 112 0 0 86 35 28.9256 OR8B4 0 genome.wustl.edu 37 11 124294398 124294398 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 124294398 124294398 C T SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known missense c.370 p.A124T 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 132 0 0 89 35 28.2258 DDX25 0 genome.wustl.edu 37 11 125778397 125778397 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 125778397 125778397 A G SNP DDX25 ENST00000263576 human ensembl 74_37 +1 known missense c.506 p.Q169R 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX25 HGNC ENSG00000109832 211 0 0 148 69 31.7972 KIRREL3 0 genome.wustl.edu 37 11 126306785 126306785 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 126306785 126306785 G A SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known silent c.1473 p.A491 0.127 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 44 0 0 34 10 22.7273 APLP2 0 genome.wustl.edu 37 11 130013273 130013273 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 130013273 130013273 A G SNP APLP2 ENST00000263574 human ensembl 74_37 +1 known missense c.2222 p.H741R 1.000 pfam_APP_amyloid_C,prints_Amyloid_glyco 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 167 0 0 101 43 29.8611 ADAMTS8 0 genome.wustl.edu 37 11 130278368 130278368 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 130278368 130278368 G A SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.2090 p.T697I 0.988 pfam_ADAM_spacer1 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 202 0 0 153 51 25 NCAPD3 0 genome.wustl.edu 37 11 134037945 134037945 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 134037945 134037945 G A SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known silent c.3519 p.D1173 0.298 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 344 0 0 243 97 28.5294 VPS26B 0 genome.wustl.edu 37 11 134104900 134104900 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 134104900 134104900 C T SNP VPS26B ENST00000281187 human ensembl 74_37 +1 known silent c.333 p.H111 0.452 pfam_VPS26,superfamily_Ig_E-set pfam_VPS26,superfamily_Ig_E-set - no_errors VPS26B HGNC ENSG00000151502 76 0 0 56 15 21.1268 ACAD8 0 genome.wustl.edu 37 11 134131231 134131231 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 134131231 134131231 C T SNP ACAD8 ENST00000281182 human ensembl 74_37 +1 known missense c.904 p.R302W 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_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD8 HGNC ENSG00000151498 82 0 0 61 18 22.7848 PIK3C2A 0 genome.wustl.edu 37 11 17113183 17113183 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 17113183 17113183 T C SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known missense c.4663 p.T1555A 1.000 superfamily_C2_dom 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_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 97 0 0 93 29 23.7705 NUCB2 0 genome.wustl.edu 37 11 17333455 17333455 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 17333455 17333455 T C SNP NUCB2 ENST00000323688 human ensembl 74_37 +1 known missense c.797 p.L266S 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NUCB2 HGNC ENSG00000070081 345 0 0 239 91 27.5758 NAV2 0 genome.wustl.edu 37 11 20112451 20112451 + Nonsense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 20112451 20112451 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known nonsense c.5716 p.Q1906* 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 73 0 0 65 11 14.4737 SLC17A6 0 genome.wustl.edu 37 11 22387120 22387120 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 22387120 22387120 T G SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.776 p.F259C 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 262 0 0 168 74 30.5785 LGR4 0 genome.wustl.edu 37 11 27390144 27390144 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 27390144 27390144 G A SNP LGR4 ENST00000379214 human ensembl 74_37 -1 known missense c.2126 p.T709M 0.251 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 231 0 0 164 71 30.2128 BDNF 0 genome.wustl.edu 37 11 27679623 27679623 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 27679623 27679623 C T SNP BDNF ENST00000438929 human ensembl 74_37 -1 known silent c.735 p.T245 1.000 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 229 1 0.434783 177 75 29.7619 NLRP6 0 genome.wustl.edu 37 11 279855 279855 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 279855 279855 C T SNP NLRP6 ENST00000312165 human ensembl 74_37 +1 known missense c.332 p.T111M 0.002 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 18 0 0 9 4 30.7692 PHLDA2 0 genome.wustl.edu 37 11 2950458 2950458 + Missense_Mutation SNP C C G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 2950458 2950458 C G SNP PHLDA2 ENST00000314222 human ensembl 74_37 -1 known missense c.137 p.R46P 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology - no_errors PHLDA2 HGNC ENSG00000181649 23 0 0 25 14 35.8974 IMMP1L 0 genome.wustl.edu 37 11 31477872 31477872 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 31477872 31477872 T C SNP IMMP1L ENST00000278200 human ensembl 74_37 -1 known missense c.256 p.I86V 1.000 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP1L HGNC ENSG00000148950 105 0 0 72 45 38.4615 PAX6 0 genome.wustl.edu 37 11 31822302 31822302 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 31822302 31822302 C T SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known missense c.502 p.G168R 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 157 0 0 119 49 29.1667 COMMD9 0 genome.wustl.edu 37 11 36298658 36298658 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 36298658 36298658 G A SNP COMMD9 ENST00000263401 human ensembl 74_37 -1 known silent c.333 p.T111 0.726 pfam_HCaRG pfam_HCaRG - no_errors COMMD9 HGNC ENSG00000110442 38 0 0 16 7 30.4348 TRAF6 0 genome.wustl.edu 37 11 36512014 36512014 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 36512014 36512014 C T SNP TRAF6 ENST00000348124 human ensembl 74_37 -1 known missense c.943 p.E315K 1.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF6 HGNC ENSG00000175104 327 0 0 244 85 25.8359 RHOG 0 genome.wustl.edu 37 11 3849105 3849105 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 3849105 3849105 C T SNP RHOG ENST00000351018 human ensembl 74_37 -1 known silent c.264 p.P88 0.983 pfam_Small_GTPase,pfam_MIRO-like,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_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 RHOG HGNC ENSG00000177105 70 0 0 35 22 38.5965 ACCSL 0 genome.wustl.edu 37 11 44072905 44072905 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 44072905 44072905 G A SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.656 p.R219Q 0.947 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 155 1 0.641026 110 38 25.6757 OR52K1 0 genome.wustl.edu 37 11 4510990 4510990 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 4510990 4510990 C A SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known missense c.860 p.P287H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K1 HGNC ENSG00000196778 318 0 0 304 21 6.46154 PHF21A 0 genome.wustl.edu 37 11 45992812 45992812 + Missense_Mutation SNP A A T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 45992812 45992812 A T SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known missense c.467 p.I156N 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 126 0 0 104 34 24.6377 OR52I1 0 genome.wustl.edu 37 11 4615836 4615836 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 4615836 4615836 A G SNP OR52I1 ENST00000530443 human ensembl 74_37 +1 known missense c.568 p.R190G 0.996 pfam_GPCR_Rhodpsn,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 OR52I1 HGNC ENSG00000232268 339 2 0.58651 238 82 25.625 AGBL2 0 genome.wustl.edu 37 11 47689154 47689154 + Missense_Mutation SNP A A C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 47689154 47689154 A C SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.2315 p.M772R 0.004 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 181 0 0 130 56 30.1075 FNBP4 0 genome.wustl.edu 37 11 47776215 47776215 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 47776215 47776215 G A SNP FNBP4 ENST00000263773 human ensembl 74_37 -1 known silent c.315 p.G105 0.942 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 161 0 0 102 42 29.1667 OR52E2 0 genome.wustl.edu 37 11 5079943 5079943 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 5079943 5079943 C A SNP OR52E2 ENST00000321522 human ensembl 74_37 -1 known missense c.915 p.K305N 0.830 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E2 HGNC ENSG00000176787 129 0 0 100 37 27.0073 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 114 0 0 88 15 14.5631 OR8I2 0 genome.wustl.edu 37 11 55860815 55860815 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 55860815 55860815 T C SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known missense c.32 p.V11A 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 319 0 0 214 87 28.9037 OR8H3 0 genome.wustl.edu 37 11 55890135 55890135 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 55890135 55890135 G A SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.287 p.G96D 0.768 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 OR8H3 HGNC ENSG00000181761 906 1 0.110254 632 256 28.8288 OR5J2 0 genome.wustl.edu 37 11 55944530 55944530 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 55944530 55944530 C T SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known missense c.437 p.T146I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 191 0 0 163 57 25.9091 OR5T2 0 genome.wustl.edu 37 11 55999773 55999773 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 55999773 55999773 T C SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.889 p.M297V 0.103 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 325 0 0 245 90 26.8657 OR10Q1 0 genome.wustl.edu 37 11 57995679 57995679 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 57995679 57995679 G A SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known silent c.669 p.Y223 0.118 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 OR10Q1 HGNC ENSG00000180475 52 0 0 49 15 23.4375 FAM111B 0 genome.wustl.edu 37 11 58892216 58892216 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 58892216 58892216 T G SNP FAM111B ENST00000343597 human ensembl 74_37 +1 known missense c.646 p.L216V 0.000 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 179 0 0 121 49 28.8235 OSBP 0 genome.wustl.edu 37 11 59368824 59368824 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 59368824 59368824 A G SNP OSBP ENST00000263847 human ensembl 74_37 -1 known silent c.1056 p.D352 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 131 0 0 102 40 28.169 VWCE 0 genome.wustl.edu 37 11 61053785 61053785 + Splice_Site SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 61053785 61053785 C T SNP VWCE ENST00000335613 human ensembl 74_37 -1 known splice_site c.541+1 e5+1 1.000 - - - no_errors VWCE HGNC ENSG00000167992 238 0 0 248 17 6.41509 AHNAK 0 genome.wustl.edu 37 11 62284419 62284419 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 62284419 62284419 T C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.17470 p.T5824A 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 222 1 0.44843 183 70 27.668 C11orf42 0 genome.wustl.edu 37 11 6231598 6231598 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 6231598 6231598 C T SNP C11orf42 ENST00000316375 human ensembl 74_37 +1 known silent c.591 p.C197 1.000 NULL NULL - no_errors C11orf42 HGNC ENSG00000180878 169 0 0 111 56 33.5329 UBXN1 0 genome.wustl.edu 37 11 62445451 62445451 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 62445451 62445451 G A SNP UBXN1 ENST00000294119 human ensembl 74_37 -1 known missense c.430 p.R144C 1.000 NULL pfam_UBX,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX - no_errors UBXN1 HGNC ENSG00000162191 50 0 0 50 23 31.5068 CHRM1 0 genome.wustl.edu 37 11 62677433 62677433 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 62677433 62677433 C T SNP CHRM1 ENST00000306960 human ensembl 74_37 -1 known silent c.1140 p.P380 0.786 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM1 HGNC ENSG00000168539 111 0 0 97 41 29.7101 HRASLS5 0 genome.wustl.edu 37 11 63256439 63256439 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 63256439 63256439 A G SNP HRASLS5 ENST00000301790 human ensembl 74_37 -1 known silent c.279 p.A93 0.000 NULL pfam_LRAT-like_dom - no_errors HRASLS5 HGNC ENSG00000168004 251 0 0 172 87 33.5907 RCOR2 0 genome.wustl.edu 37 11 63680357 63680357 + Silent SNP T T A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 63680357 63680357 T A SNP RCOR2 ENST00000301459 human ensembl 74_37 -1 known silent c.954 p.P318 0.000 superfamily_Homeodomain-like pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR2 HGNC ENSG00000167771 52 0 0 30 12 28.5714 FLRT1 0 genome.wustl.edu 37 11 63884462 63884462 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 63884462 63884462 C T SNP FLRT1 ENST00000246841 human ensembl 74_37 +1 known silent c.723 p.D241 0.920 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 20 0 0 19 9 32.1429 EHD1 0 genome.wustl.edu 37 11 64621945 64621945 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 64621945 64621945 C T SNP EHD1 ENST00000320631 human ensembl 74_37 -1 known missense c.1465 p.D489N 0.999 smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 59 0 0 54 26 32.5 TRIM3 0 genome.wustl.edu 37 11 6478040 6478040 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 6478040 6478040 G A SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known missense c.916 p.R306W 1.000 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 117 0 0 106 38 26.3889 SCYL1 0 genome.wustl.edu 37 11 65298178 65298178 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 65298178 65298178 C T SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known missense c.928 p.R310W 0.999 superfamily_ARM-type_fold,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 112 0 0 110 39 26.1745 PCNXL3 0 genome.wustl.edu 37 11 65396147 65396147 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 65396147 65396147 G A SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.3784 p.A1262T 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 37 0 0 21 12 36.3636 RIN1 0 genome.wustl.edu 37 11 66102465 66102465 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 66102465 66102465 C T SNP RIN1 ENST00000311320 human ensembl 74_37 -1 known missense c.805 p.V269M 0.000 NULL pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 30 0 0 19 9 32.1429 TPP1 0 genome.wustl.edu 37 11 6638584 6638584 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 6638584 6638584 C T SNP TPP1 ENST00000299427 human ensembl 74_37 -1 known silent c.456 p.R152 1.000 pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 106 0 0 98 32 24.6154 CABP4 0 genome.wustl.edu 37 11 67225877 67225877 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 67225877 67225877 G T SNP CABP4 ENST00000325656 human ensembl 74_37 +1 known silent c.687 p.A229 0.001 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP4 HGNC ENSG00000175544 47 0 0 49 21 30 UNC93B1 0 genome.wustl.edu 37 11 67766761 67766761 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 67766761 67766761 T C SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known missense c.569 p.Y190C 1.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 21 0 0 19 7 26.9231 MRGPRD 0 genome.wustl.edu 37 11 68747812 68747812 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 68747812 68747812 T C SNP MRGPRD ENST00000309106 human ensembl 74_37 -1 known missense c.644 p.Q215R 0.518 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRD HGNC ENSG00000172938 34 0 0 20 7 25.9259 TPCN2 0 genome.wustl.edu 37 11 68822754 68822754 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 68822754 68822754 C A SNP TPCN2 ENST00000294309 human ensembl 74_37 +1 known silent c.363 p.P121 0.936 NULL pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 175 0 0 131 59 31.0526 GDPD5 0 genome.wustl.edu 37 11 75160160 75160160 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 75160160 75160160 C A SNP GDPD5 ENST00000336898 human ensembl 74_37 -1 known missense c.576 p.Q192H 1.000 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD5 HGNC ENSG00000158555 8 0 0 9 6 40 PIDD 0 genome.wustl.edu 37 11 800567 800567 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 800567 800567 C T SNP PIDD ENST00000347755 human ensembl 74_37 -1 known missense c.2017 p.E673K 1.000 NULL pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 47 0 0 47 14 22.9508 CCDC67 0 genome.wustl.edu 37 11 93148249 93148249 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 93148249 93148249 C A SNP CCDC67 ENST00000298050 human ensembl 74_37 +1 known missense c.1607 p.P536H 0.994 NULL superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 152 1 0.653595 137 48 25.9459 UTP20 0 genome.wustl.edu 37 12 101693522 101693522 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 101693522 101693522 A G SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.1493 p.D498G 0.779 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 172 0 0 119 39 24.6835 SELPLG 0 genome.wustl.edu 37 12 109017078 109017078 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 109017078 109017078 C T SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known missense c.1006 p.V336M 0.650 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 38 0 0 37 17 31.4815 MVK 0 genome.wustl.edu 37 12 110032921 110032921 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 110032921 110032921 G A SNP MVK ENST00000228510 human ensembl 74_37 +1 known missense c.974 p.R325H 0.442 pfam_GHMP_kinase_C_dom,prints_Galkinase,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 90 0 0 76 30 28.3019 RAD9B 0 genome.wustl.edu 37 12 110940236 110940236 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 110940236 110940236 C T SNP RAD9B ENST00000447044 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RAD9B HGNC ENSG00000151164 11 0 0 16 5 23.8095 MYL2 0 genome.wustl.edu 37 12 111348947 111348947 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 111348947 111348947 G A SNP MYL2 ENST00000228841 human ensembl 74_37 -1 known silent c.435 p.D145 0.808 smart_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL2 HGNC ENSG00000111245 140 0 0 88 34 27.8689 ATXN2 0 genome.wustl.edu 37 12 111907981 111907981 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 111907981 111907981 C T SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known missense c.3247 p.A1083T 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 161 0 0 113 47 29.375 HECTD4 0 genome.wustl.edu 37 12 112674831 112674831 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 112674831 112674831 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known nonsense c.4846 p.R1616* 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 16 0 0 11 6 35.2941 PTPN11 0 genome.wustl.edu 37 12 112926888 112926888 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 112926888 112926888 G T SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.1508 p.G503V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 242 0 0 180 62 25.6198 ERC1 0 genome.wustl.edu 37 12 1137726 1137726 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 1137726 1137726 G T SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known missense c.657 p.Q219H 0.992 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 70 0 0 45 28 38.3562 SUDS3 0 genome.wustl.edu 37 12 118841254 118841254 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 118841254 118841254 C T SNP SUDS3 ENST00000397564 human ensembl 74_37 +1 known silent c.738 p.P246 0.342 NULL pfam_Sds3 - no_errors SUDS3 HGNC ENSG00000111707 38 0 0 19 3 13.6364 HCAR2 0 genome.wustl.edu 37 12 123187766 123187766 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 123187766 123187766 C T SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known missense c.65 p.R22Q 0.887 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 110 0 0 115 44 27.673 LOH12CR1 0 genome.wustl.edu 37 12 12514140 12514140 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 12514140 12514140 T C SNP LOH12CR1 ENST00000314565 human ensembl 74_37 +1 known missense c.59 p.V20A 0.906 NULL pfam_Tumour_suppressor_LOH1CR12 - no_errors LOH12CR1 HGNC ENSG00000165714 210 0 0 143 48 25.1309 DUSP16 0 genome.wustl.edu 37 12 12630724 12630724 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 12630724 12630724 T C SNP DUSP16 ENST00000228862 human ensembl 74_37 -1 known silent c.1041 p.S347 0.956 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 115 0 0 86 6 6.52174 DDX47 0 genome.wustl.edu 37 12 12974263 12974263 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 12974263 12974263 T C SNP DDX47 ENST00000358007 human ensembl 74_37 +1 known silent c.303 p.T101 0.368 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX47 HGNC ENSG00000213782 345 0 0 250 101 28.7749 DDX47 0 genome.wustl.edu 37 12 12974623 12974623 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 12974623 12974623 A G SNP DDX47 ENST00000358007 human ensembl 74_37 +1 known silent c.405 p.Q135 0.543 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX47 HGNC ENSG00000213782 136 0 0 93 39 29.5455 EP400 0 genome.wustl.edu 37 12 132474611 132474611 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 132474611 132474611 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.2620 p.A874T 1.000 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 129 0 0 67 32 32.3232 DDX51 0 genome.wustl.edu 37 12 132624231 132624231 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 132624231 132624231 C T SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known silent c.1923 p.P641 0.035 NULL 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 60 0 0 58 18 23.6842 TSPAN11 0 genome.wustl.edu 37 12 31136068 31136068 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 31136068 31136068 G A SNP TSPAN11 ENST00000261177 human ensembl 74_37 +1 known missense c.685 p.G229R 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC ENSG00000110900 20 0 0 20 4 16.6667 SYT10 0 genome.wustl.edu 37 12 33535371 33535371 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 33535371 33535371 G T SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known missense c.1283 p.P428H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 201 0 0 135 48 26.2295 FGF6 0 genome.wustl.edu 37 12 4553334 4553334 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 4553334 4553334 C T SNP FGF6 ENST00000228837 human ensembl 74_37 -1 known missense c.415 p.V139I 0.529 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF6 HGNC ENSG00000111241 30 0 0 39 10 20.4082 ARID2 0 genome.wustl.edu 37 12 46211518 46211518 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 46211518 46211518 G T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.484 p.V162L 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 163 0 0 109 34 23.7762 SLC38A2 0 genome.wustl.edu 37 12 46761057 46761057 + Nonstop_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 46761057 46761057 A G SNP SLC38A2 ENST00000549258 human ensembl 74_37 -1 known nonstop c.265 p.*89R 0.915 NULL NULL - no_errors SLC38A2 HGNC ENSG00000134294 305 0 0 255 14 5.20446 PCED1B 0 genome.wustl.edu 37 12 47630075 47630075 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 47630075 47630075 C T SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known missense c.1229 p.T410M 0.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 51 0 0 36 14 28 H1FNT 0 genome.wustl.edu 37 12 48723422 48723422 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 48723422 48723422 C T SNP H1FNT ENST00000335017 human ensembl 74_37 +1 known silent c.348 p.A116 0.092 NULL NULL - no_errors H1FNT HGNC ENSG00000187166 8 0 0 9 6 40 KCNH3 0 genome.wustl.edu 37 12 49951217 49951217 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 49951217 49951217 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known silent c.2733 p.A911 0.002 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 29 0 0 29 11 27.5 NCKAP5L 0 genome.wustl.edu 37 12 50186659 50186659 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 50186659 50186659 G A SNP NCKAP5L ENST00000335999 human ensembl 74_37 -1 known missense c.3451 p.R1151W 0.031 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 13 0 0 10 4 28.5714 KCNA1 0 genome.wustl.edu 37 12 5021140 5021140 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 5021140 5021140 C T SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.596 p.T199M 0.394 prints_K_chnl_volt-dep_Kv1.1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 75 0 0 80 28 25.9259 SLC4A8 0 genome.wustl.edu 37 12 51856144 51856144 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 51856144 51856144 G A SNP SLC4A8 ENST00000453097 human ensembl 74_37 +1 known silent c.1152 p.A384 0.677 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 205 1 0.485437 157 74 32.0346 CCDC77 0 genome.wustl.edu 37 12 520943 520943 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 520943 520943 C T SNP CCDC77 ENST00000239830 human ensembl 74_37 +1 known silent c.69 p.A23 0.000 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 73 0 0 69 22 24.1758 ACVR1B 0 genome.wustl.edu 37 12 52385715 52385715 + Nonsense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 52385715 52385715 C T SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known nonsense c.1330 p.R444* 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_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 ACVR1B HGNC ENSG00000135503 238 1 0.41841 153 60 28.169 C12orf44 0 genome.wustl.edu 37 12 52470862 52470862 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 52470862 52470862 T C SNP C12orf44 ENST00000336854 human ensembl 74_37 +1 known missense c.545 p.L182S 1.000 NULL pfam_ATG101 - no_errors C12orf44 HGNC ENSG00000123395 97 0 0 60 27 31.0345 KRT6A 0 genome.wustl.edu 37 12 52881626 52881626 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 52881626 52881626 C A SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.1573 p.G525C 0.994 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 98 0 0 77 27 25.9615 KRT79 0 genome.wustl.edu 37 12 53227574 53227574 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 53227574 53227574 G A SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known silent c.471 p.I157 0.988 pfam_IF,superfamily_STAT_TF_coiled-coil pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 242 0 0 156 63 28.7671 ITGA5 0 genome.wustl.edu 37 12 54812816 54812816 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 54812816 54812816 G A SNP ITGA5 ENST00000293379 human ensembl 74_37 -1 known missense c.167 p.P56L 0.995 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 39 0 0 22 14 38.8889 DNAJC14 0 genome.wustl.edu 37 12 56222358 56222358 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 56222358 56222358 C T SNP DNAJC14 ENST00000317269 human ensembl 74_37 -1 known missense c.85 p.V29M 0.997 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC14 HGNC ENSG00000135392 130 0 0 112 43 27.7419 PMEL 0 genome.wustl.edu 37 12 56355192 56355192 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 56355192 56355192 A G SNP PMEL ENST00000360714 human ensembl 74_37 -1 known silent c.243 p.N81 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC ENSG00000185664 125 0 0 142 14 8.97436 ESYT1 0 genome.wustl.edu 37 12 56527633 56527633 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 56527633 56527633 C T SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known silent c.1449 p.Y483 0.998 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 156 0 0 125 51 28.9773 PAN2 0 genome.wustl.edu 37 12 56717366 56717366 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 56717366 56717366 A G SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.2201 p.I734T 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 94 0 0 70 20 22.2222 GLS2 0 genome.wustl.edu 37 12 56868363 56868363 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 56868363 56868363 C T SNP GLS2 ENST00000311966 human ensembl 74_37 -1 known missense c.1189 p.G397S 1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 104 0 0 109 43 28.2895 LRP1 0 genome.wustl.edu 37 12 57600317 57600317 + Silent SNP C C G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 57600317 57600317 C G SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.11652 p.G3884 0.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 74 0 0 61 30 32.967 GLI1 0 genome.wustl.edu 37 12 57858503 57858503 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 57858503 57858503 C T SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.241 p.R81W 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 71 0 0 50 25 33.3333 SCNN1A 0 genome.wustl.edu 37 12 6472695 6472695 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 6472695 6472695 C T SNP SCNN1A ENST00000358945 human ensembl 74_37 -1 known missense c.598 p.A200T 0.013 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC ENSG00000111319 12 0 0 14 4 22.2222 LPCAT3 0 genome.wustl.edu 37 12 7087667 7087667 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 7087667 7087667 T G SNP LPCAT3 ENST00000261407 human ensembl 74_37 -1 known missense c.876 p.E292D 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors LPCAT3 HGNC ENSG00000111684 168 0 0 137 48 25.9459 TRHDE 0 genome.wustl.edu 37 12 72667121 72667121 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 72667121 72667121 C T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.563 p.A188V 0.999 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 66 0 0 57 3 5 RBP5 0 genome.wustl.edu 37 12 7277310 7277310 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 7277310 7277310 T C SNP RBP5 ENST00000266560 human ensembl 74_37 -1 known missense c.269 p.E90G 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP5 HGNC ENSG00000139194 192 1 0.518135 139 57 29.0816 NECAP1 0 genome.wustl.edu 37 12 8242847 8242847 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 8242847 8242847 G A SNP NECAP1 ENST00000339754 human ensembl 74_37 +1 known missense c.253 p.V85M 1.000 pfam_NECAP-1 pfam_NECAP-1 - no_errors NECAP1 HGNC ENSG00000089818 159 0 0 93 40 30.0752 CCDC59 0 genome.wustl.edu 37 12 82746900 82746900 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 82746900 82746900 C T SNP CCDC59 ENST00000548126 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC59 HGNC ENSG00000133773 171 0 0 101 33 24.6269 USP44 0 genome.wustl.edu 37 12 95927734 95927734 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 95927734 95927734 C T SNP USP44 ENST00000258499 human ensembl 74_37 -1 known missense c.299 p.R100H 1.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP44 HGNC ENSG00000136014 167 0 0 101 49 32.6667 PCCA 0 genome.wustl.edu 37 13 101077918 101077918 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 101077918 101077918 C T SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.1778 p.T593I 1.000 NULL 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_RimK-type,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_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 63 0 0 34 20 37.037 TMTC4 0 genome.wustl.edu 37 13 101321023 101321023 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 101321023 101321023 G A SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known missense c.29 p.A10V 0.319 NULL pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 81 0 0 55 20 26.6667 NALCN 0 genome.wustl.edu 37 13 101717877 101717877 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 101717877 101717877 G A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4483 p.R1495W 0.983 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 114 0 0 88 44 33.3333 NALCN 0 genome.wustl.edu 37 13 102047698 102047698 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 102047698 102047698 G A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.127 p.R43C 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 108 1 0.917431 82 28 25.4545 SOX1 0 genome.wustl.edu 37 13 112722290 112722290 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 112722290 112722290 G A SNP SOX1 ENST00000330949 human ensembl 74_37 +1 known silent c.318 p.R106 0.998 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 25 0 0 17 7 29.1667 MCF2L 0 genome.wustl.edu 37 13 113744018 113744018 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 113744018 113744018 A G SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.3100 p.T1034A 0.011 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 97 0 0 75 22 22.6804 RNF17 0 genome.wustl.edu 37 13 25399806 25399806 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 25399806 25399806 A G SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.2141 p.Y714C 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 197 1 0.505051 110 46 29.4872 AMER2 0 genome.wustl.edu 37 13 25744142 25744142 + Missense_Mutation SNP C C G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 25744142 25744142 C G SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.1616 p.S539T 0.006 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 94 0 0 65 31 32.2917 SLC46A3 0 genome.wustl.edu 37 13 29284952 29284952 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 29284952 29284952 C T SNP SLC46A3 ENST00000266943 human ensembl 74_37 -1 known silent c.1089 p.V363 0.986 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 116 0 0 85 26 23.4234 MTUS2 0 genome.wustl.edu 37 13 29600876 29600876 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 29600876 29600876 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2071 p.E691K 0.990 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 75 0 0 61 19 23.75 MTUS2 0 genome.wustl.edu 37 13 30072657 30072657 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 30072657 30072657 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.3811 p.L1271F 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 89 0 0 53 36 40.4494 BRCA2 0 genome.wustl.edu 37 13 32906658 32906658 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 32906658 32906658 T C SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.1043 p.V348A 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 432 0 0 304 140 31.5315 KL 0 genome.wustl.edu 37 13 33591317 33591317 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 33591317 33591317 G A SNP KL ENST00000380099 human ensembl 74_37 +1 known missense c.739 p.G247S 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 12 0 0 12 8 40 NBEA 0 genome.wustl.edu 37 13 36026370 36026370 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 36026370 36026370 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6446 p.A2149V 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 13 0 0 13 3 18.75 DCLK1 0 genome.wustl.edu 37 13 36401891 36401891 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 36401891 36401891 C T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.1288 p.E430K 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_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 220 0 0 147 39 20.9677 LMO7 0 genome.wustl.edu 37 13 76432063 76432063 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 76432063 76432063 G A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.4927 p.G1643S 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 101 0 0 75 31 29.2453 SLITRK1 0 genome.wustl.edu 37 13 84454725 84454725 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 84454725 84454725 G A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known silent c.918 p.N306 0.996 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 130 0 0 88 37 29.6 RNF113B 0 genome.wustl.edu 37 13 98829144 98829144 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 98829144 98829144 T C SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known missense c.347 p.Q116R 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 70 0 0 47 19 28.7879 TEP1 0 genome.wustl.edu 37 14 20871978 20871978 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 20871978 20871978 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known silent c.1098 p.T366 0.016 pfam_TROVE,pfscan_TROVE 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 234 0 0 147 68 31.6279 SLC22A17 0 genome.wustl.edu 37 14 23821303 23821303 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 23821303 23821303 C T SNP SLC22A17 ENST00000206544 human ensembl 74_37 -1 known missense c.121 p.A41T 0.930 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A17 HGNC ENSG00000092096 11 0 0 2 4 66.6667 MYH7 0 genome.wustl.edu 37 14 23884861 23884861 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 23884861 23884861 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.5134 p.R1712W 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 84 0 0 68 23 25.2747 NFATC4 0 genome.wustl.edu 37 14 24842494 24842494 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 24842494 24842494 G A SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.1666 p.A556T 1.000 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 NFATC4 HGNC ENSG00000100968 57 0 0 41 17 29.3103 COCH 0 genome.wustl.edu 37 14 31355427 31355427 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 31355427 31355427 G T SNP COCH ENST00000216361 human ensembl 74_37 +1 known missense c.1386 p.R462S 0.982 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC ENSG00000100473 163 0 0 164 12 6.81818 NPAS3 0 genome.wustl.edu 37 14 34266683 34266683 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 34266683 34266683 C T SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.1322 p.T441I 0.998 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 157 0 0 110 37 25.1701 KLHDC2 0 genome.wustl.edu 37 14 50249176 50249176 + Splice_Site SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 50249176 50249176 G T SNP KLHDC2 ENST00000298307 human ensembl 74_37 +1 known splice_site c.1044+1 e11+1 1.000 - - - no_errors KLHDC2 HGNC ENSG00000165516 180 0 0 143 52 26.6667 TRIM9 0 genome.wustl.edu 37 14 51561482 51561482 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 51561482 51561482 T G SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.176 p.D59A 1.000 smart_Znf_RING pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 19 0 0 20 9 31.0345 TXNDC16 0 genome.wustl.edu 37 14 52948967 52948967 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 52948967 52948967 A G SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known silent c.1293 p.D431 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 166 0 0 107 36 25.1748 MAPK1IP1L 0 genome.wustl.edu 37 14 55531369 55531369 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 55531369 55531369 C T SNP MAPK1IP1L ENST00000553976 human ensembl 74_37 +1 putative rna NULL NULL 0.958 - - - no_errors MAPK1IP1L HGNC ENSG00000168175 153 0 0 102 36 26.087 AP5M1 0 genome.wustl.edu 37 14 57747008 57747008 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 57747008 57747008 A G SNP AP5M1 ENST00000261558 human ensembl 74_37 +1 known silent c.816 p.V272 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC ENSG00000053770 468 0 0 365 150 29.1262 RHOJ 0 genome.wustl.edu 37 14 63671636 63671636 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 63671636 63671636 G A SNP RHOJ ENST00000316754 human ensembl 74_37 +1 known missense c.49 p.D17N 0.002 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC ENSG00000126785 25 0 0 23 6 20.6897 PPP2R5E 0 genome.wustl.edu 37 14 63851161 63851161 + Splice_Site SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 63851161 63851161 C T SNP PPP2R5E ENST00000337537 human ensembl 74_37 -1 known splice_site c.1202+1 e11+1 1.000 - - - no_errors PPP2R5E HGNC ENSG00000154001 197 0 0 130 49 27.3743 MTHFD1 0 genome.wustl.edu 37 14 64867549 64867549 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 64867549 64867549 T C SNP MTHFD1 ENST00000216605 human ensembl 74_37 +1 known missense c.80 p.L27S 1.000 pfam_THF_DH/CycHdrlase_cat_dom pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 63 0 0 47 20 29.8507 PLEKHG3 0 genome.wustl.edu 37 14 65198835 65198835 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 65198835 65198835 G A SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.1148 p.R383Q 0.958 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 85 0 0 72 17 19.1011 SPTB 0 genome.wustl.edu 37 14 65260557 65260557 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 65260557 65260557 G A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known silent c.1824 p.I608 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,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 SPTB HGNC ENSG00000070182 62 0 0 62 21 25.3012 ZFYVE26 0 genome.wustl.edu 37 14 68246963 68246963 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 68246963 68246963 C T SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.4669 p.A1557T 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 43 0 0 41 17 29.3103 EXD2 0 genome.wustl.edu 37 14 69695627 69695627 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 69695627 69695627 G A SNP EXD2 ENST00000312994 human ensembl 74_37 +1 known missense c.428 p.C143Y 0.036 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 101 0 0 87 6 6.45161 HEATR4 0 genome.wustl.edu 37 14 73985743 73985743 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 73985743 73985743 C A SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.1194 p.Q398H 0.512 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 133 1 0.746269 119 35 22.7273 VRTN 0 genome.wustl.edu 37 14 74824432 74824432 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 74824432 74824432 G A SNP VRTN ENST00000256362 human ensembl 74_37 +1 known missense c.946 p.A316T 1.000 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 76 0 0 60 22 26.8293 LTBP2 0 genome.wustl.edu 37 14 74969544 74969544 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 74969544 74969544 G A SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.4982 p.P1661L 0.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 97 0 0 88 27 23.4783 YLPM1 0 genome.wustl.edu 37 14 75284986 75284986 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 75284986 75284986 G A SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.5999 p.R2000H 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 38 0 0 21 12 36.3636 RPS6KL1 0 genome.wustl.edu 37 14 75388057 75388057 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 75388057 75388057 C T SNP RPS6KL1 ENST00000358328 human ensembl 74_37 -1 known missense c.188 p.R63H 0.995 pfam_MIT,smart_MIT 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 102 0 0 75 32 29.9065 IRF2BPL 0 genome.wustl.edu 37 14 77492010 77492010 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 77492010 77492010 T C SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known missense c.2126 p.N709S 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 49 0 0 31 9 22.5 GALC 0 genome.wustl.edu 37 14 88448557 88448557 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 88448557 88448557 A G SNP GALC ENST00000261304 human ensembl 74_37 -1 known missense c.613 p.Y205H 0.998 pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59 - no_errors GALC HGNC ENSG00000054983 80 0 0 52 18 25.7143 KCNK10 0 genome.wustl.edu 37 14 88654340 88654340 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 88654340 88654340 G A SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.982 p.R328W 1.000 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl_TRAAK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 203 0 0 161 62 27.8027 TTC7B 0 genome.wustl.edu 37 14 91282553 91282553 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 91282553 91282553 G A SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known silent c.87 p.L29 0.997 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 18 0 0 15 3 16.6667 CCDC88C 0 genome.wustl.edu 37 14 91875074 91875074 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 91875074 91875074 C T SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.199 p.V67I 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 75 0 0 57 16 21.9178 SERPINA4 0 genome.wustl.edu 37 14 95033560 95033560 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 95033560 95033560 G A SNP SERPINA4 ENST00000298841 human ensembl 74_37 +1 known nonsense c.903 p.W301* 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 107 0 0 83 20 19.4175 DICER1 0 genome.wustl.edu 37 14 95557666 95557666 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 95557666 95557666 C T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.5401 p.D1801N 1.000 pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 392 0 0 260 110 29.7297 MAGEL2 0 genome.wustl.edu 37 15 23889184 23889184 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 23889184 23889184 C T SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.1897 p.G633S 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 44 0 0 37 20 35.0877 SNHG14 0 genome.wustl.edu 37 15 25227226 25227226 + RNA SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 25227226 25227226 G A SNP SNHG14 ENST00000551361 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors SNHG14 HGNC ENSG00000224078 290 0 0 225 77 25.4967 SNHG14 0 genome.wustl.edu 37 15 25334966 25334966 + RNA SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 25334966 25334966 A G SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 59 0 0 36 17 32.0755 HERC2 0 genome.wustl.edu 37 15 28463670 28463670 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 28463670 28463670 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.5993 p.R1998Q 1.000 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 214 0 0 147 10 6.36943 HERC2 0 genome.wustl.edu 37 15 28463702 28463702 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 28463702 28463702 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.5961 p.S1987 0.029 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 255 0 0 180 10 5.26316 OTUD7A 0 genome.wustl.edu 37 15 31862339 31862339 + Silent SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 31862339 31862339 T G SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known silent c.213 p.T71 0.994 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 95 0 0 68 32 32 RYR3 0 genome.wustl.edu 37 15 33938602 33938602 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 33938602 33938602 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.3816 p.T1272 1.000 pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 307 1 0.324675 260 95 26.7606 RYR3 0 genome.wustl.edu 37 15 34032146 34032146 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 34032146 34032146 C A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.7770 p.I2590 0.997 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 49 0 0 33 14 29.7872 RYR3 0 genome.wustl.edu 37 15 34102805 34102805 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 34102805 34102805 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.10152 p.P3384 0.386 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 68 0 0 52 16 23.5294 GJD2 0 genome.wustl.edu 37 15 35044711 35044711 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 35044711 35044711 T C SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known missense c.934 p.R312G 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 48 0 0 65 6 8.4507 DISP2 0 genome.wustl.edu 37 15 40661129 40661129 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 40661129 40661129 C A SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.2816 p.P939H 0.999 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 71 0 0 86 10 10.4167 SPTBN5 0 genome.wustl.edu 37 15 42185101 42185101 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 42185101 42185101 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known silent c.375 p.L125 0.971 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 58 0 0 50 4 7.40741 DTWD1 0 genome.wustl.edu 37 15 49917367 49917367 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 49917367 49917367 G A SNP DTWD1 ENST00000251250 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 72 0 0 45 19 29.6875 TRPM7 0 genome.wustl.edu 37 15 50931674 50931674 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 50931674 50931674 C T SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.607 p.G203R 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 175 0 0 119 44 26.9939 MYO5A 0 genome.wustl.edu 37 15 52611494 52611494 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 52611494 52611494 A G SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.4997 p.V1666A 1.000 pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 126 1 0.787402 124 38 23.4568 FBXL22 0 genome.wustl.edu 37 15 63893593 63893593 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 63893593 63893593 C A SNP FBXL22 ENST00000360587 human ensembl 74_37 +1 known missense c.452 p.P151H 0.001 NULL superfamily_F-box_dom - no_errors FBXL22 HGNC ENSG00000197361 44 0 0 30 14 31.8182 KIF23 0 genome.wustl.edu 37 15 69737166 69737166 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 69737166 69737166 G A SNP KIF23 ENST00000260363 human ensembl 74_37 +1 known missense c.2417 p.R806H 0.996 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 136 0 0 109 36 24.8276 THSD4 0 genome.wustl.edu 37 15 71952908 71952908 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 71952908 71952908 G A SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.1192 p.V398M 0.624 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 258 0 0 204 90 30.6122 STOML1 0 genome.wustl.edu 37 15 74276451 74276451 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 74276451 74276451 C T SNP STOML1 ENST00000316900 human ensembl 74_37 -1 known missense c.1024 p.G342R 0.989 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin - no_errors STOML1 HGNC ENSG00000067221 43 0 0 47 15 24.1935 CYP11A1 0 genome.wustl.edu 37 15 74630343 74630343 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 74630343 74630343 C A SNP CYP11A1 ENST00000268053 human ensembl 74_37 -1 known missense c.1536 p.W512C 0.978 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 125 0 0 88 42 32.3077 PTPN9 0 genome.wustl.edu 37 15 75819488 75819488 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 75819488 75819488 G A SNP PTPN9 ENST00000306726 human ensembl 74_37 -1 known missense c.178 p.R60C 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran - no_errors PTPN9 HGNC ENSG00000169410 104 0 0 87 35 28.6885 AP3B2 0 genome.wustl.edu 37 15 83348969 83348969 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 83348969 83348969 G A SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known silent c.1068 p.Y356 0.982 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 23 0 0 15 7 31.8182 LOC283693 0 genome.wustl.edu 37 15 83395899 83395899 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 83395899 83395899 C T SNP LOC283693 ENST00000560958 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-752G15.9 Clone_based_vega_gene ENSG00000259315 10 0 0 7 6 46.1538 IGF1R 0 genome.wustl.edu 37 15 99486214 99486214 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 99486214 99486214 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.3520 p.L1174 1.000 pirsf_Tyr_kinase_insulin-like_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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 186 0 0 122 68 35.7895 TXNDC11 0 genome.wustl.edu 37 16 11785525 11785525 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 11785525 11785525 T C SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known silent c.1602 p.A534 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 250 0 0 174 72 29.2683 GSPT1 0 genome.wustl.edu 37 16 11979123 11979123 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 11979123 11979123 G A SNP GSPT1 ENST00000434724 human ensembl 74_37 -1 known missense c.1262 p.P421L 1.000 superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT1 HGNC ENSG00000103342 41 0 0 38 16 29.6296 CRAMP1L 0 genome.wustl.edu 37 16 1709993 1709993 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 1709993 1709993 G A SNP CRAMP1L ENST00000293925 human ensembl 74_37 +1 known missense c.2342 p.R781H 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 36 0 0 33 8 19.5122 TMC7 0 genome.wustl.edu 37 16 19063046 19063046 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 19063046 19063046 G A SNP TMC7 ENST00000304381 human ensembl 74_37 +1 known silent c.1779 p.P593 1.000 pfam_TMC pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 349 0 0 254 116 31.3514 ACSM2A 0 genome.wustl.edu 37 16 20471449 20471449 + Nonsense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 20471449 20471449 C T SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known nonsense c.13 p.R5* 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 70 0 0 44 26 37.1429 DNAH3 0 genome.wustl.edu 37 16 20994175 20994175 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 20994175 20994175 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.7727 p.R2576H 1.000 superfamily_P-loop_NTPase 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 157 0 0 94 38 28.7879 TRAF7 0 genome.wustl.edu 37 16 2215906 2215906 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 2215906 2215906 C T SNP TRAF7 ENST00000564067 human ensembl 74_37 +1 known missense c.130 p.R44C 0.028 NULL NULL - no_errors TRAF7 HGNC ENSG00000131653 65 0 0 48 20 29.4118 SCNN1B 0 genome.wustl.edu 37 16 23359943 23359943 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 23359943 23359943 T C SNP SCNN1B ENST00000307331 human ensembl 74_37 +1 known missense c.158 p.L53P 1.000 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 33 0 0 22 14 38.8889 TNRC6A 0 genome.wustl.edu 37 16 24802952 24802952 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 24802952 24802952 C T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.2989 p.R997C 0.999 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 131 0 0 77 24 23.7624 AQP8 0 genome.wustl.edu 37 16 25228611 25228611 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 25228611 25228611 G A SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known silent c.105 p.V35 0.982 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 343 0 0 305 25 7.57576 ZKSCAN2 0 genome.wustl.edu 37 16 25255513 25255513 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 25255513 25255513 T C SNP ZKSCAN2 ENST00000328086 human ensembl 74_37 -1 known missense c.1574 p.H525R 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 137 0 0 130 46 26.1364 HS3ST4 0 genome.wustl.edu 37 16 26147212 26147212 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 26147212 26147212 G A SNP HS3ST4 ENST00000331351 human ensembl 74_37 +1 known silent c.1014 p.L338 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST4 HGNC ENSG00000182601 279 0 0 211 67 24.1007 KDM8 0 genome.wustl.edu 37 16 27231806 27231806 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 27231806 27231806 G T SNP KDM8 ENST00000441782 human ensembl 74_37 +1 known missense c.1200 p.Q400H 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM8 HGNC ENSG00000155666 211 0 0 134 59 30.5699 TCEB2 0 genome.wustl.edu 37 16 2822060 2822060 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 2822060 2822060 C T SNP TCEB2 ENST00000572954 human ensembl 74_37 -1 putative missense c.182 p.R61H 0.004 NULL pfscan_Ubiquitin_supergroup - no_errors TCEB2 HGNC ENSG00000103363 40 0 0 43 3 6.52174 NPIPB6 0 genome.wustl.edu 37 16 28354076 28354076 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 28354076 28354076 C T SNP NPIPB6 ENST00000532254 human ensembl 74_37 -1 novel missense c.1130 p.R377Q 0.040 NULL NULL - no_errors NPIPB6 HGNC ENSG00000198156 13 0 0 11 3 21.4286 SH2B1 0 genome.wustl.edu 37 16 28883900 28883900 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 28883900 28883900 C T SNP SH2B1 ENST00000322610 human ensembl 74_37 +1 known missense c.1771 p.H591Y 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 141 0 0 94 37 28.2443 ZNF689 0 genome.wustl.edu 37 16 30616043 30616043 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 30616043 30616043 G A SNP ZNF689 ENST00000287461 human ensembl 74_37 -1 known missense c.1045 p.H349Y 0.374 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 ZNF689 HGNC ENSG00000156853 28 0 0 16 9 36 SRCAP 0 genome.wustl.edu 37 16 30734020 30734020 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 30734020 30734020 C A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.3843 p.S1281R 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 211 0 0 139 56 28.7179 ZNF646 0 genome.wustl.edu 37 16 31088784 31088784 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 31088784 31088784 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.1139 p.G380D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 44 0 0 24 13 35.1351 ITGAX 0 genome.wustl.edu 37 16 31372506 31372506 + Missense_Mutation SNP A A T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 31372506 31372506 A T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.984 p.Q328H 0.935 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 243 0 0 189 67 26.1719 C16orf58 0 genome.wustl.edu 37 16 31512030 31512030 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 31512030 31512030 G A SNP C16orf58 ENST00000565128 human ensembl 74_37 -1 known missense c.323 p.A108V 0.983 NULL pfam_RUS2/WXR1 - no_errors C16orf58 HGNC ENSG00000140688 64 0 0 56 14 20 ENSG00000261711 0 genome.wustl.edu 37 16 34712235 34712235 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 34712235 34712235 C T SNP ENSG00000261711 ENST00000569028 human ensembl 74_37 -1 known rna NULL NULL 0.402 - - - no_errors RP11-80F22.9 Clone_based_vega_gene ENSG00000261711 49 0 0 29 6 17.1429 NETO2 0 genome.wustl.edu 37 16 47165899 47165899 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 47165899 47165899 G A SNP NETO2 ENST00000562435 human ensembl 74_37 -1 known silent c.72 p.A24 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 441 0 0 328 126 27.7533 ABCC11 0 genome.wustl.edu 37 16 48226616 48226616 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 48226616 48226616 G A SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known nonsense c.2521 p.R841* 0.004 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 ABCC11 HGNC ENSG00000121270 110 0 0 76 39 33.913 SALL1 0 genome.wustl.edu 37 16 51175241 51175241 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 51175241 51175241 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.892 p.G298R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 85 0 0 92 5 5.15464 CAPNS2 0 genome.wustl.edu 37 16 55600706 55600706 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 55600706 55600706 G A SNP CAPNS2 ENST00000457326 human ensembl 74_37 +1 known missense c.38 p.R13Q 0.024 NULL pfscan_EF_hand_dom - no_errors CAPNS2 HGNC ENSG00000256812 72 0 0 48 19 28.3582 AMFR 0 genome.wustl.edu 37 16 56401438 56401438 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 56401438 56401438 C T SNP AMFR ENST00000290649 human ensembl 74_37 -1 known missense c.1517 p.R506Q 1.000 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC ENSG00000159461 523 1 0.19084 350 151 30.1397 NUP93 0 genome.wustl.edu 37 16 56862946 56862946 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 56862946 56862946 C T SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known silent c.852 p.G284 0.001 pfam_Nucleoporin_int_Nup93/Nic96 pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 185 0 0 148 49 24.8731 GPR114 0 genome.wustl.edu 37 16 57595970 57595970 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 57595970 57595970 C T SNP GPR114 ENST00000394361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPR114 HGNC ENSG00000159618 36 0 0 28 8 22.2222 CES2 0 genome.wustl.edu 37 16 66974142 66974142 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 66974142 66974142 C T SNP CES2 ENST00000317091 human ensembl 74_37 +1 known silent c.633 p.H211 0.016 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 88 0 0 90 8 8.16327 HSF4 0 genome.wustl.edu 37 16 67199519 67199519 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 67199519 67199519 G A SNP HSF4 ENST00000264009 human ensembl 74_37 +1 known missense c.218 p.R73H 0.999 pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC ENSG00000102878 52 0 0 34 24 41.3793 SLC9A5 0 genome.wustl.edu 37 16 67293791 67293791 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 67293791 67293791 G A SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.1784 p.R595H 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 40 0 0 24 16 40 PLEKHG4 0 genome.wustl.edu 37 16 67314221 67314221 + Missense_Mutation SNP G G C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 67314221 67314221 G C SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.274 p.V92L 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 67 0 0 49 19 27.9412 ATP6V0D1 0 genome.wustl.edu 37 16 67472975 67472975 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 67472975 67472975 T C SNP ATP6V0D1 ENST00000290949 human ensembl 74_37 -1 known missense c.715 p.K239E 1.000 pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D1 HGNC ENSG00000159720 198 0 0 160 56 25.9259 PSMB10 0 genome.wustl.edu 37 16 67968747 67968747 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 67968747 67968747 G A SNP PSMB10 ENST00000358514 human ensembl 74_37 -1 known silent c.663 p.G221 0.000 NULL pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB - no_errors PSMB10 HGNC ENSG00000205220 242 0 0 149 83 35.7759 CDH1 0 genome.wustl.edu 37 16 68862117 68862117 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 68862117 68862117 G A SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known silent c.2205 p.A735 0.005 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 239 0 0 159 54 25.3521 NFAT5 0 genome.wustl.edu 37 16 69687167 69687167 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 69687167 69687167 G A SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known missense c.841 p.V281I 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 109 0 0 65 25 27.7778 HYDIN 0 genome.wustl.edu 37 16 70954971 70954971 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 70954971 70954971 C A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.7308 p.Q2436H 0.495 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 258 0 0 181 69 27.6 AP1G1 0 genome.wustl.edu 37 16 71803538 71803538 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 71803538 71803538 C T SNP AP1G1 ENST00000433195 human ensembl 74_37 -1 known silent c.699 p.A233 0.932 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 207 0 0 135 47 25.8242 ZFHX3 0 genome.wustl.edu 37 16 72831632 72831632 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 72831632 72831632 G T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.4949 p.S1650Y 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 ZFHX3 HGNC ENSG00000140836 90 0 0 83 31 27.193 ZFHX3 0 genome.wustl.edu 37 16 72991509 72991509 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 72991509 72991509 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.2536 p.R846C 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 ZFHX3 HGNC ENSG00000140836 107 0 0 82 32 28.0702 ZFHX3 0 genome.wustl.edu 37 16 72992629 72992629 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 72992629 72992629 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.1416 p.A472 0.965 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 ZFHX3 HGNC ENSG00000140836 87 0 0 53 24 31.1688 ADAMTS18 0 genome.wustl.edu 37 16 77359782 77359782 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 77359782 77359782 T G SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.2013 p.K671N 0.999 NULL 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 226 2 0.877193 127 44 25.731 ATMIN 0 genome.wustl.edu 37 16 81076065 81076065 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 81076065 81076065 C T SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known silent c.642 p.H214 0.158 smart_Znf_C2H2-like smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 68 0 0 45 18 28.5714 CDH13 0 genome.wustl.edu 37 16 83378575 83378575 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 83378575 83378575 C T SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.745 p.P249S 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 179 0 0 111 45 28.8462 NECAB2 0 genome.wustl.edu 37 16 84005769 84005769 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 84005769 84005769 C T SNP NECAB2 ENST00000305202 human ensembl 74_37 +1 known missense c.215 p.A72V 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB2 HGNC ENSG00000103154 44 0 0 45 24 34.7826 FOXL1 0 genome.wustl.edu 37 16 86612470 86612470 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 86612470 86612470 G A SNP FOXL1 ENST00000320241 human ensembl 74_37 +1 known silent c.141 p.P47 0.961 smart_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL1 HGNC ENSG00000176678 44 0 0 49 26 34.6667 MVD 0 genome.wustl.edu 37 16 88725067 88725067 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 88725067 88725067 G A SNP MVD ENST00000301012 human ensembl 74_37 -1 known silent c.132 p.H44 1.000 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb - no_errors MVD HGNC ENSG00000167508 38 0 0 24 7 22.5806 SNAI3 0 genome.wustl.edu 37 16 88748006 88748006 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 88748006 88748006 C T SNP SNAI3 ENST00000332281 human ensembl 74_37 -1 known missense c.193 p.V65I 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 30 0 0 16 15 48.3871 MC1R 0 genome.wustl.edu 37 16 89986279 89986279 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 89986279 89986279 G A SNP MC1R ENST00000555147 human ensembl 74_37 +1 known missense c.613 p.V205M 0.400 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melancort_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC1R HGNC ENSG00000258839 41 0 0 26 18 40.9091 MYH13 0 genome.wustl.edu 37 17 10222241 10222241 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 10222241 10222241 C A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.3604 p.D1202Y 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 207 0 0 125 48 27.7457 MYH2 0 genome.wustl.edu 37 17 10428368 10428368 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 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 249 0 0 204 66 24.4444 MYH2 0 genome.wustl.edu 37 17 10428789 10428789 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 10428789 10428789 G A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known nonsense c.4516 p.R1506* 1.000 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 261 0 0 167 74 30.7054 MYO1C 0 genome.wustl.edu 37 17 1378128 1378128 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 1378128 1378128 A G SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known missense c.1694 p.L565P 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 56 0 0 37 17 31.4815 FLCN 0 genome.wustl.edu 37 17 17117098 17117098 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 17117098 17117098 G A SNP FLCN ENST00000285071 human ensembl 74_37 -1 known silent c.1611 p.S537 0.956 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 337 0 0 262 83 24.058 LLGL1 0 genome.wustl.edu 37 17 18133328 18133328 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 18133328 18133328 G A SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known missense c.155 p.G52D 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 82 0 0 76 32 29.6296 LLGL1 0 genome.wustl.edu 37 17 18138263 18138263 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 18138263 18138263 G A SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known missense c.1016 p.R339H 1.000 pfam_LLGL2,superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 37 0 0 33 15 31.25 FAM83G 0 genome.wustl.edu 37 17 18881935 18881935 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 18881935 18881935 C T SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known silent c.1044 p.K348 1.000 NULL pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 219 0 0 171 88 33.9768 SLC47A1 0 genome.wustl.edu 37 17 19452949 19452949 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 19452949 19452949 C T SNP SLC47A1 ENST00000395585 human ensembl 74_37 +1 known missense c.457 p.L153F 1.000 pfam_MATE,tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 360 0 0 243 56 18.7291 UBBP4 0 genome.wustl.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 21731270 21731270 T C SNP UBBP4 ENST00000584755 human ensembl 74_37 +1 novel missense c.572 p.I191T 1.000 smart_Ubiquitin_dom pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 106 1 0.934579 102 18 15 TSR1 0 genome.wustl.edu 37 17 2236284 2236284 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 2236284 2236284 G A SNP TSR1 ENST00000301364 human ensembl 74_37 -1 known missense c.1276 p.H426Y 0.149 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 156 0 0 176 10 5.37634 SUPT6H 0 genome.wustl.edu 37 17 27001457 27001457 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 27001457 27001457 G A SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.266 p.R89H 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 61 0 0 59 20 25.3165 NEK8 0 genome.wustl.edu 37 17 27064381 27064381 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 27064381 27064381 C T SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known missense c.676 p.R226W 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_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 40 0 0 38 8 17.3913 FLOT2 0 genome.wustl.edu 37 17 27207775 27207775 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 27207775 27207775 G A SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known silent c.1204 p.L402 1.000 NULL pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 116 0 0 112 44 28.2051 SSH2 0 genome.wustl.edu 37 17 27977813 27977813 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 27977813 27977813 C T SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.1004 p.R335Q 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,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 211 0 0 178 60 25.2101 EFCAB5 0 genome.wustl.edu 37 17 28296322 28296322 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 28296322 28296322 A G SNP EFCAB5 ENST00000394835 human ensembl 74_37 +1 known missense c.704 p.Q235R 1.000 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 54 0 0 45 20 30.7692 ASIC2 0 genome.wustl.edu 37 17 31416001 31416001 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 31416001 31416001 C T SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known silent c.867 p.T289 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 102 0 0 61 22 26.506 SLFN5 0 genome.wustl.edu 37 17 33586247 33586247 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 33586247 33586247 C T SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.538 p.R180W 0.035 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 306 0 0 195 80 29.0909 RDM1 0 genome.wustl.edu 37 17 34251608 34251608 + Nonsense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 34251608 34251608 C A SNP RDM1 ENST00000293273 human ensembl 74_37 -1 known nonsense c.568 p.G190* 0.910 pfam_Rad52_Rad22 pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom - no_errors RDM1 HGNC ENSG00000187456 285 0 0 225 87 27.8846 GPR179 0 genome.wustl.edu 37 17 36499438 36499438 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 36499438 36499438 G A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.235 p.R79C 0.006 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 53 0 0 68 6 8.10811 MLLT6 0 genome.wustl.edu 37 17 36880978 36880978 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 36880978 36880978 C T SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known silent c.2989 p.L997 1.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 16 0 0 10 4 28.5714 CDK12 0 genome.wustl.edu 37 17 37657601 37657601 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 37657601 37657601 A G SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2518 p.M840V 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 CDK12 HGNC ENSG00000167258 270 0 0 205 72 25.9928 PSMD3 0 genome.wustl.edu 37 17 38153813 38153813 + Missense_Mutation SNP T T A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 38153813 38153813 T A SNP PSMD3 ENST00000264639 human ensembl 74_37 +1 known missense c.1584 p.D528E 1.000 pfam_26S_Psome_reg_C pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD3 HGNC ENSG00000108344 55 0 0 75 6 7.40741 KRT27 0 genome.wustl.edu 37 17 38933343 38933343 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 38933343 38933343 G T SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known missense c.1288 p.P430T 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 189 0 0 128 40 23.8095 HAP1 0 genome.wustl.edu 37 17 39888507 39888507 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 39888507 39888507 G A SNP HAP1 ENST00000310778 human ensembl 74_37 -1 known missense c.689 p.A230V 1.000 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 125 0 0 99 43 30.2817 KLHL10 0 genome.wustl.edu 37 17 39994259 39994259 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 39994259 39994259 C A SNP KLHL10 ENST00000293303 human ensembl 74_37 +1 known silent c.75 p.A25 1.000 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin 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 KLHL10 HGNC ENSG00000161594 152 0 0 152 19 11.1111 HSD17B1 0 genome.wustl.edu 37 17 40705607 40705607 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 40705607 40705607 T C SNP HSD17B1 ENST00000585807 human ensembl 74_37 +1 known missense c.416 p.L139S 0.970 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B1 HGNC ENSG00000108786 62 0 0 46 12 20.6897 EZH1 0 genome.wustl.edu 37 17 40856673 40856673 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 40856673 40856673 C T SNP EZH1 ENST00000428826 human ensembl 74_37 -1 known missense c.1964 p.R655H 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 84 0 0 42 20 32.2581 UBTF 0 genome.wustl.edu 37 17 42293150 42293150 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 42293150 42293150 G T SNP UBTF ENST00000302904 human ensembl 74_37 -1 known missense c.346 p.L116M 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors UBTF HGNC ENSG00000108312 170 0 0 128 54 29.6703 GPATCH8 0 genome.wustl.edu 37 17 42476878 42476878 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 42476878 42476878 G T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.2567 p.S856Y 0.994 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 191 0 0 161 53 24.7664 KIF18B 0 genome.wustl.edu 37 17 43009431 43009431 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 43009431 43009431 G A SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known missense c.1418 p.A473V 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 35 0 0 30 11 26.8293 SPNS3 0 genome.wustl.edu 37 17 4352608 4352608 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 4352608 4352608 G A SNP SPNS3 ENST00000355530 human ensembl 74_37 +1 known silent c.849 p.K283 1.000 pfam_MFS,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 SPNS3 HGNC ENSG00000182557 97 0 0 89 39 30.4688 NSF 0 genome.wustl.edu 37 17 44828940 44828940 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 44828940 44828940 A G SNP NSF ENST00000398238 human ensembl 74_37 +1 known missense c.2115 p.I705M 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Cdc48_dom2,pfam_CDC4_N-term_subdom,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors NSF HGNC ENSG00000073969 51 0 0 33 15 31.25 WNT9B 0 genome.wustl.edu 37 17 44950021 44950021 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 44950021 44950021 C T SNP WNT9B ENST00000290015 human ensembl 74_37 +1 known silent c.216 p.P72 0.007 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT9B HGNC ENSG00000158955 58 0 0 36 7 16.2791 TBKBP1 0 genome.wustl.edu 37 17 45787930 45787930 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 45787930 45787930 G A SNP TBKBP1 ENST00000361722 human ensembl 74_37 +1 known missense c.1786 p.G596R 1.000 NULL NULL - no_errors TBKBP1 HGNC ENSG00000198933 98 0 0 63 23 26.7442 MED11 0 genome.wustl.edu 37 17 4635160 4635160 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 4635160 4635160 G A SNP MED11 ENST00000293777 human ensembl 74_37 +1 known missense c.175 p.V59M 1.000 pfam_Mediator_Med11 pfam_Mediator_Med11 - no_errors MED11 HGNC ENSG00000161920 67 0 0 52 23 30.6667 XYLT2 0 genome.wustl.edu 37 17 48434049 48434049 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 48434049 48434049 A G SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.1660 p.M554V 0.981 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 110 0 0 68 34 33.3333 ABCC3 0 genome.wustl.edu 37 17 48753735 48753735 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 48753735 48753735 C T SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.3164 p.S1055L 0.712 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 293 1 0.340136 238 118 33.1461 SUPT4H1 0 genome.wustl.edu 37 17 56424577 56424577 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 56424577 56424577 C T SNP SUPT4H1 ENST00000225504 human ensembl 74_37 -1 known silent c.258 p.A86 0.409 pfam_Spt4/RpoE2_Znf,pirsf_Spt4 pfam_Spt4/RpoE2_Znf,pirsf_Spt4 - no_errors SUPT4H1 HGNC ENSG00000213246 299 0 0 186 52 21.8487 RNF43 0 genome.wustl.edu 37 17 56436149 56436149 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 56436149 56436149 G A SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known nonsense c.988 p.R330* 0.972 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 19 0 0 14 4 22.2222 RNF43 0 genome.wustl.edu 37 17 56437515 56437515 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 56437515 56437515 A G SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known missense c.947 p.I316T 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 147 0 0 107 41 27.7027 PPM1E 0 genome.wustl.edu 37 17 57058168 57058168 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 57058168 57058168 A G SNP PPM1E ENST00000308249 human ensembl 74_37 +1 known missense c.2044 p.R682G 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1E HGNC ENSG00000175175 249 0 0 162 53 24.6512 DHX40 0 genome.wustl.edu 37 17 57684403 57684403 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 57684403 57684403 C T SNP DHX40 ENST00000251241 human ensembl 74_37 +1 known missense c.2210 p.S737L 0.985 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 111 0 0 79 27 25.4717 CLTC 0 genome.wustl.edu 37 17 57743872 57743872 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 57743872 57743872 T C SNP CLTC ENST00000269122 human ensembl 74_37 +1 known missense c.1814 p.F605S 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,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 CLTC HGNC ENSG00000141367 137 0 0 108 34 23.9437 MRC2 0 genome.wustl.edu 37 17 60741989 60741989 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 60741989 60741989 G A SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.199 p.A67T 0.921 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 128 0 0 109 42 27.8146 STRADA 0 genome.wustl.edu 37 17 61781922 61781922 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 61781922 61781922 G A SNP STRADA ENST00000336174 human ensembl 74_37 -1 known silent c.879 p.N293 0.556 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADA HGNC ENSG00000266173 81 0 0 62 24 27.907 GH2 0 genome.wustl.edu 37 17 61958092 61958092 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 61958092 61958092 G A SNP GH2 ENST00000332800 human ensembl 74_37 -1 known silent c.496 p.L166 0.359 superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 185 0 0 112 53 32.1212 CEP95 0 genome.wustl.edu 37 17 62525505 62525505 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 62525505 62525505 G A SNP CEP95 ENST00000556440 human ensembl 74_37 +1 known missense c.1406 p.R469H 0.000 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 40 0 0 45 4 8.16327 BCL6B 0 genome.wustl.edu 37 17 6927489 6927489 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 6927489 6927489 C T SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known silent c.267 p.F89 0.948 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 172 1 0.578035 132 56 29.7872 USH1G 0 genome.wustl.edu 37 17 72916266 72916266 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 72916266 72916266 C T SNP USH1G ENST00000319642 human ensembl 74_37 -1 known missense c.665 p.R222Q 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 84 0 0 67 25 27.1739 RECQL5 0 genome.wustl.edu 37 17 73627686 73627686 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 73627686 73627686 C T SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known missense c.1292 p.C431Y 1.000 tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 59 0 0 35 10 22.2222 PRPSAP1 0 genome.wustl.edu 37 17 74324878 74324878 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 74324878 74324878 G A SNP PRPSAP1 ENST00000446526 human ensembl 74_37 -1 known missense c.701 p.T234M 0.933 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP1 HGNC ENSG00000161542 41 0 0 43 14 24.5614 SENP3 0 genome.wustl.edu 37 17 7473800 7473800 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 7473800 7473800 C T SNP SENP3 ENST00000429205 human ensembl 74_37 +1 known missense c.1468 p.R490C 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 44 0 0 42 18 30 USP36 0 genome.wustl.edu 37 17 76798447 76798447 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 76798447 76798447 C T SNP USP36 ENST00000312010 human ensembl 74_37 -1 known missense c.2981 p.C994Y 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 18 0 0 16 14 46.6667 KDM6B 0 genome.wustl.edu 37 17 7750430 7750430 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 7750430 7750430 G A SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.917 p.R306Q 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 98 0 0 67 29 30.2083 KDM6B 0 genome.wustl.edu 37 17 7752175 7752175 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 7752175 7752175 G A SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.2569 p.A857T 0.118 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 75 0 0 65 23 26.1364 RNF213 0 genome.wustl.edu 37 17 78319326 78319326 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 78319326 78319326 C A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.7191 p.T2397 0.520 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 131 0 0 88 22 20 ENTHD2 0 genome.wustl.edu 37 17 79202797 79202797 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 79202797 79202797 C T SNP ENTHD2 ENST00000300714 human ensembl 74_37 -1 known silent c.1509 p.S503 0.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 21 0 0 13 10 43.4783 NPLOC4 0 genome.wustl.edu 37 17 79573742 79573742 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 79573742 79573742 G A SNP NPLOC4 ENST00000374747 human ensembl 74_37 -1 known missense c.629 p.P210L 1.000 pfam_NPL4_Zn-bd_put,pirsf_PolyUb_recognition_cplx_Npl4 pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4 - no_errors NPLOC4 HGNC ENSG00000182446 65 0 0 73 12 14.1176 PYCR1 0 genome.wustl.edu 37 17 79894022 79894022 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 79894022 79894022 G A SNP PYCR1 ENST00000329875 human ensembl 74_37 -1 known silent c.115 p.L39 0.932 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 74 0 0 50 20 28.5714 ASPSCR1 0 genome.wustl.edu 37 17 79968693 79968693 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 79968693 79968693 C A SNP ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known missense c.1186 p.L396M 0.986 pfam_UBX,pfscan_UBX pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 105 0 0 74 34 31.4815 ASPSCR1 0 genome.wustl.edu 37 17 79973185 79973185 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 79973185 79973185 G A SNP ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known missense c.1588 p.D530N 0.001 NULL pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 57 0 0 44 22 33.3333 CCDC57 0 genome.wustl.edu 37 17 80085655 80085655 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 80085655 80085655 C T SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known missense c.2479 p.A827T 0.010 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 57 0 0 56 19 25.3333 CD7 0 genome.wustl.edu 37 17 80274765 80274765 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 80274765 80274765 G T SNP CD7 ENST00000312648 human ensembl 74_37 -1 known missense c.175 p.L59M 0.916 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD7 HGNC ENSG00000173762 61 0 0 48 19 28.3582 PIK3R6 0 genome.wustl.edu 37 17 8726318 8726318 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 8726318 8726318 G T SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known missense c.1712 p.P571H 0.997 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 144 0 0 113 31 21.5278 TUBB6 0 genome.wustl.edu 37 18 12325560 12325560 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 12325560 12325560 G A SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known missense c.772 p.V258M 1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 51 0 0 50 8 13.7931 ROCK1 0 genome.wustl.edu 37 18 18566911 18566911 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 18566911 18566911 T G SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known missense c.2304 p.E768D 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 153 0 0 111 33 22.9167 ZNF521 0 genome.wustl.edu 37 18 22805217 22805217 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 22805217 22805217 C T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.2665 p.D889N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 125 0 0 88 29 24.7863 GAREM 0 genome.wustl.edu 37 18 29868123 29868123 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 29868123 29868123 A G SNP GAREM ENST00000269209 human ensembl 74_37 -1 known missense c.437 p.I146T 1.000 NULL superfamily_SAM/pointed - no_errors GAREM HGNC ENSG00000141441 154 0 0 146 51 25.8883 CELF4 0 genome.wustl.edu 37 18 34833844 34833844 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 34833844 34833844 C T SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.1391 p.G464D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 75 0 0 48 19 28.3582 SETBP1 0 genome.wustl.edu 37 18 42531906 42531906 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 42531906 42531906 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.2601 p.S867 0.918 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 71 0 0 39 14 26.4151 CTIF 0 genome.wustl.edu 37 18 46288052 46288052 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 46288052 46288052 A G SNP CTIF ENST00000382998 human ensembl 74_37 +1 known missense c.1369 p.M457V 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 50 0 0 42 19 31.1475 DCC 0 genome.wustl.edu 37 18 51052985 51052985 + Splice_Site SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 51052985 51052985 A G SNP DCC ENST00000442544 human ensembl 74_37 +1 known splice_site c.4112-2 e28-2 1.000 - - - no_errors DCC HGNC ENSG00000187323 159 0 0 98 33 25.1908 WDR7 0 genome.wustl.edu 37 18 54483305 54483305 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 54483305 54483305 T C SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known silent c.3234 p.P1078 0.002 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 41 0 0 22 10 31.25 ZNF516 0 genome.wustl.edu 37 18 74091691 74091691 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 74091691 74091691 C T SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known silent c.2379 p.P793 0.012 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 35 0 0 33 11 25 ZNF236 0 genome.wustl.edu 37 18 74620360 74620360 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 74620360 74620360 C A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known silent c.2376 p.A792 0.047 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 187 0 0 166 9 5.14286 ZNF236 0 genome.wustl.edu 37 18 74639295 74639295 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 74639295 74639295 G T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known silent c.4230 p.T1410 0.299 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 96 0 0 75 37 33.0357 SALL3 0 genome.wustl.edu 37 18 76753440 76753440 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 76753440 76753440 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known silent c.1449 p.P483 0.052 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 33 0 0 23 10 30.303 PQLC1 0 genome.wustl.edu 37 18 77679353 77679353 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 77679353 77679353 C T SNP PQLC1 ENST00000397778 human ensembl 74_37 -1 known missense c.439 p.V147M 0.998 NULL smart_CTNS - no_errors PQLC1 HGNC ENSG00000122490 52 0 0 40 11 21.5686 RBFA 0 genome.wustl.edu 37 18 77794583 77794583 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 77794583 77794583 T C SNP RBFA ENST00000306735 human ensembl 74_37 +1 known missense c.88 p.C30R 0.000 NULL pfam_Ribosome-bd_facA,superfamily_Ribosome-bd_facA_dom - no_errors RBFA HGNC ENSG00000101546 44 0 0 27 13 32.5 ICAM5 0 genome.wustl.edu 37 19 10404943 10404943 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 10404943 10404943 G A SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.1939 p.A647T 0.978 smart_Ig_sub pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 185 0 0 131 52 28.4153 ECSIT 0 genome.wustl.edu 37 19 11617215 11617215 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 11617215 11617215 G A SNP ECSIT ENST00000270517 human ensembl 74_37 -1 known silent c.1080 p.C360 0.999 NULL pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 153 0 0 96 39 28.8889 ZNF625 0 genome.wustl.edu 37 19 12257031 12257031 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 12257031 12257031 A G SNP ZNF625 ENST00000439556 human ensembl 74_37 -1 known missense c.200 p.M67T 0.018 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 ZNF625 HGNC ENSG00000257591 156 0 0 110 44 28.5714 DHPS 0 genome.wustl.edu 37 19 12790343 12790343 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 12790343 12790343 C T SNP DHPS ENST00000210060 human ensembl 74_37 -1 known silent c.606 p.T202 0.094 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC ENSG00000095059 277 0 0 328 19 5.4755 MAST1 0 genome.wustl.edu 37 19 12969475 12969475 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 12969475 12969475 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.1288 p.E430K 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_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 MAST1 HGNC ENSG00000105613 53 0 0 44 23 34.3284 GAMT 0 genome.wustl.edu 37 19 1398901 1398901 + Missense_Mutation SNP T T A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 1398901 1398901 T A SNP GAMT ENST00000447102 human ensembl 74_37 -1 known missense c.584 p.E195V 0.000 NULL NULL - no_errors GAMT HGNC ENSG00000130005 42 0 0 28 9 24.3243 DAZAP1 0 genome.wustl.edu 37 19 1433740 1433740 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 1433740 1433740 C A SNP DAZAP1 ENST00000336761 human ensembl 74_37 +1 novel missense c.1051 p.L351M 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 80 0 0 74 31 29.5238 AKAP8L 0 genome.wustl.edu 37 19 15512143 15512143 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 15512143 15512143 T C SNP AKAP8L ENST00000397410 human ensembl 74_37 -1 known missense c.634 p.M212V 1.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 86 0 0 63 22 25.8824 MBD3 0 genome.wustl.edu 37 19 1578342 1578342 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 1578342 1578342 G A SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known silent c.873 p.V291 0.005 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 43 0 0 38 16 29.6296 SIN3B 0 genome.wustl.edu 37 19 16942458 16942458 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 16942458 16942458 G T SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.381 p.Q127H 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 157 0 0 119 38 24.2038 SIN3B 0 genome.wustl.edu 37 19 16980513 16980513 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 16980513 16980513 G A SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known silent c.2145 p.E715 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 29 0 0 24 12 33.3333 MYO9B 0 genome.wustl.edu 37 19 17283255 17283255 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 17283255 17283255 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.1903 p.H635Y 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 32 0 0 33 15 31.25 USE1 0 genome.wustl.edu 37 19 17330563 17330563 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 17330563 17330563 G A SNP USE1 ENST00000263897 human ensembl 74_37 +1 known missense c.721 p.V241I 1.000 pfam_Vesicle_transport_protein_Use1 pfam_Vesicle_transport_protein_Use1 - no_errors USE1 HGNC ENSG00000053501 157 0 0 114 46 28.75 FAM129C 0 genome.wustl.edu 37 19 17648229 17648229 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 17648229 17648229 G A SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known missense c.565 p.V189M 0.000 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 203 0 0 150 72 32.4324 KIAA1683 0 genome.wustl.edu 37 19 18368642 18368642 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 18368642 18368642 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.3452 p.R1151H 0.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 46 0 0 27 23 46 ELL 0 genome.wustl.edu 37 19 18557279 18557279 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 18557279 18557279 G A SNP ELL ENST00000262809 human ensembl 74_37 -1 known missense c.1544 p.A515V 0.984 pfam_Occludin_RNApol2_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 14 0 0 15 9 37.5 DDX49 0 genome.wustl.edu 37 19 19032668 19032668 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 19032668 19032668 G A SNP DDX49 ENST00000595858 human ensembl 74_37 +1 known missense c.418 p.A140T 0.072 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,pfscan_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX49 HGNC ENSG00000105671 92 0 0 82 7 7.86517 DOT1L 0 genome.wustl.edu 37 19 2193687 2193687 + Splice_Site SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 2193687 2193687 G A SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known splice_site c.494-1 e6-1 1.000 - - - no_errors DOT1L HGNC ENSG00000104885 66 0 0 40 21 34.4262 DOT1L 0 genome.wustl.edu 37 19 2213960 2213960 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 2213960 2213960 C T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.1772 p.A591V 0.001 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 35 0 0 26 13 33.3333 ZNF492 0 genome.wustl.edu 37 19 22846697 22846697 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 22846697 22846697 T C SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known missense c.226 p.C76R 0.000 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 23 0 0 23 4 14.8148 LINGO3 0 genome.wustl.edu 37 19 2291504 2291504 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 2291504 2291504 G A SNP LINGO3 ENST00000404279 human ensembl 74_37 -1 known missense c.272 p.A91V 1.000 smart_Leu-rich_rpt_typical-subtyp 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 LINGO3 HGNC ENSG00000220008 12 0 0 10 5 33.3333 GNG7 0 genome.wustl.edu 37 19 2515096 2515096 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 2515096 2515096 C T SNP GNG7 ENST00000382159 human ensembl 74_37 -1 known missense c.131 p.R44Q 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG7 HGNC ENSG00000176533 125 0 0 91 17 15.7407 CCNE1 0 genome.wustl.edu 37 19 30311678 30311678 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 30311678 30311678 G A SNP CCNE1 ENST00000262643 human ensembl 74_37 +1 known missense c.532 p.A178T 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC ENSG00000105173 128 0 0 96 30 23.8095 WDR88 0 genome.wustl.edu 37 19 33623259 33623259 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 33623259 33623259 G A SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known missense c.184 p.A62T 0.653 NULL pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 108 0 0 88 27 23.4783 WDR88 0 genome.wustl.edu 37 19 33666454 33666454 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 33666454 33666454 G A SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known silent c.1395 p.P465 0.000 NULL pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 134 0 0 95 38 28.5714 CHST8 0 genome.wustl.edu 37 19 34263265 34263265 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 34263265 34263265 G A SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.572 p.R191H 0.988 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 69 0 0 46 26 36.1111 CHST8 0 genome.wustl.edu 37 19 34263278 34263278 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 34263278 34263278 C T SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known silent c.585 p.C195 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 70 0 0 53 19 26.3889 SCGB2B2 0 genome.wustl.edu 37 19 35085149 35085149 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 35085149 35085149 G A SNP SCGB2B2 ENST00000379204 human ensembl 74_37 -1 known silent c.177 p.S59 0.203 pfam_Secretoglobin,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin pfam_Secretoglobin,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin - no_errors SCGB2B2 HGNC ENSG00000205209 134 0 0 123 14 10.219 ZNF302 0 genome.wustl.edu 37 19 35175800 35175800 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 35175800 35175800 A G SNP ZNF302 ENST00000423823 human ensembl 74_37 +1 known silent c.858 p.E286 0.577 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 ZNF302 HGNC ENSG00000089335 112 1 0.884956 111 38 25.5034 FAM187B 0 genome.wustl.edu 37 19 35719007 35719007 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 35719007 35719007 G A SNP FAM187B ENST00000324675 human ensembl 74_37 -1 known missense c.577 p.R193W 0.026 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 63 0 0 47 18 27.6923 HAUS5 0 genome.wustl.edu 37 19 36109010 36109010 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 36109010 36109010 C T SNP HAUS5 ENST00000203166 human ensembl 74_37 +1 known missense c.734 p.A245V 0.921 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 127 0 0 88 51 36.6906 TBCB 0 genome.wustl.edu 37 19 36611634 36611634 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 36611634 36611634 G A SNP TBCB ENST00000221855 human ensembl 74_37 +1 known missense c.281 p.R94H 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors TBCB HGNC ENSG00000105254 50 0 0 39 16 29.0909 TJP3 0 genome.wustl.edu 37 19 3733835 3733835 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 3733835 3733835 G A SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known missense c.859 p.V287M 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_ZonOcculdens pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 200 0 0 170 84 33.0709 SIPA1L3 0 genome.wustl.edu 37 19 38573616 38573616 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 38573616 38573616 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.1411 p.A471T 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 42 0 0 32 6 15.7895 LGALS4 0 genome.wustl.edu 37 19 39294176 39294176 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 39294176 39294176 G T SNP LGALS4 ENST00000307751 human ensembl 74_37 -1 known missense c.556 p.P186T 0.997 superfamily_ConA-like_lec_gl_sf pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS4 HGNC ENSG00000171747 89 0 0 48 28 36.8421 LRFN1 0 genome.wustl.edu 37 19 39799075 39799075 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 39799075 39799075 G A SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known missense c.1514 p.P505L 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 20 0 0 10 6 37.5 SAMD4B 0 genome.wustl.edu 37 19 39870681 39870681 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 39870681 39870681 C T SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known missense c.1606 p.R536C 0.991 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 33 0 0 37 8 17.7778 FCGBP 0 genome.wustl.edu 37 19 40373995 40373995 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 40373995 40373995 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.12083 p.P4028L 0.002 smart_VWC_out,smart_VWF_C,smart_Fol_N 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 29 0 0 24 5 17.2414 PSMC4 0 genome.wustl.edu 37 19 40480513 40480513 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 40480513 40480513 G A SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known silent c.552 p.P184 0.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 102 0 0 84 30 26.3158 SERTAD3 0 genome.wustl.edu 37 19 40947828 40947828 + Silent SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 40947828 40947828 T G SNP SERTAD3 ENST00000322354 human ensembl 74_37 -1 known silent c.160 p.R54 0.834 pfam_SERTA,pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors SERTAD3 HGNC ENSG00000167565 40 0 0 19 3 13.6364 SPTBN4 0 genome.wustl.edu 37 19 41062146 41062146 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 41062146 41062146 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known silent c.5241 p.E1747 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 SPTBN4 HGNC ENSG00000160460 87 0 0 71 17 19.3182 CYP2A13 0 genome.wustl.edu 37 19 41600201 41600201 + Missense_Mutation SNP A A C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 41600201 41600201 A C SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.1025 p.K342T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,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 CYP2A13 HGNC ENSG00000197838 123 0 0 116 9 7.2 CCDC97 0 genome.wustl.edu 37 19 41822288 41822288 + Splice_Site SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 41822288 41822288 G T SNP CCDC97 ENST00000269967 human ensembl 74_37 +1 known splice_site c.47-1 e2-1 0.167 - - - no_errors CCDC97 HGNC ENSG00000142039 25 0 0 16 6 27.2727 B9D2 0 genome.wustl.edu 37 19 41863901 41863901 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 41863901 41863901 C T SNP B9D2 ENST00000243578 human ensembl 74_37 -1 known missense c.115 p.V39M 0.546 pfam_B9_dom pfam_B9_dom - no_errors B9D2 HGNC ENSG00000123810 57 0 0 40 25 38.4615 ANKRD24 0 genome.wustl.edu 37 19 4217166 4217166 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 4217166 4217166 C T SNP ANKRD24 ENST00000318934 human ensembl 74_37 +1 known missense c.2009 p.T670I 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 24 0 0 19 4 17.3913 DMRTC2 0 genome.wustl.edu 37 19 42354596 42354596 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 42354596 42354596 C A SNP DMRTC2 ENST00000269945 human ensembl 74_37 +1 known silent c.819 p.A273 0.125 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC ENSG00000142025 102 0 0 90 29 24.3697 ATP1A3 0 genome.wustl.edu 37 19 42492739 42492739 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 42492739 42492739 G A SNP ATP1A3 ENST00000545399 human ensembl 74_37 -1 novel silent c.21 p.D7 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 141 0 0 140 27 16.1677 CADM4 0 genome.wustl.edu 37 19 44130991 44130991 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 44130991 44130991 C T SNP CADM4 ENST00000222374 human ensembl 74_37 -1 known silent c.444 p.P148 0.609 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM4 HGNC ENSG00000105767 137 0 0 106 37 25.8741 UBXN6 0 genome.wustl.edu 37 19 4445590 4445590 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 4445590 4445590 C T SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.1231 p.D411N 1.000 NULL pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 134 0 0 103 34 24.8175 PLIN4 0 genome.wustl.edu 37 19 4513413 4513413 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 4513413 4513413 C T SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.517 p.V173I 0.013 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 132 0 0 110 42 27.6316 CLASRP 0 genome.wustl.edu 37 19 45573322 45573322 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 45573322 45573322 C T SNP CLASRP ENST00000221455 human ensembl 74_37 +1 known silent c.1917 p.R639 0.995 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 100 0 0 69 22 24.1758 MARK4 0 genome.wustl.edu 37 19 45797635 45797635 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 45797635 45797635 G A SNP MARK4 ENST00000262891 human ensembl 74_37 +1 known missense c.1523 p.R508H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK4 HGNC ENSG00000007047 74 0 0 55 20 26.6667 IRF2BP1 0 genome.wustl.edu 37 19 46387358 46387358 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 46387358 46387358 C T SNP IRF2BP1 ENST00000302165 human ensembl 74_37 -1 known missense c.1675 p.V559M 0.985 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP1 HGNC ENSG00000170604 32 0 0 28 11 28.2051 PNMAL1 0 genome.wustl.edu 37 19 46973314 46973314 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 46973314 46973314 C T SNP PNMAL1 ENST00000313683 human ensembl 74_37 -1 known missense c.979 p.E327K 0.000 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 330 0 0 251 113 31.044 MEIS3 0 genome.wustl.edu 37 19 47912499 47912499 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 47912499 47912499 C T SNP MEIS3 ENST00000559524 human ensembl 74_37 -1 known missense c.715 p.G239R 0.997 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS3 HGNC ENSG00000105419 33 0 0 25 14 35.8974 TICAM1 0 genome.wustl.edu 37 19 4817190 4817190 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 4817190 4817190 G T SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known silent c.1200 p.L400 0.969 superfamily_TIR_dom,pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 64 0 0 51 25 32.8947 TMEM143 0 genome.wustl.edu 37 19 48845964 48845964 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 48845964 48845964 C T SNP TMEM143 ENST00000293261 human ensembl 74_37 -1 known silent c.798 p.L266 1.000 pfam_DUF3754 pfam_DUF3754 - no_errors TMEM143 HGNC ENSG00000161558 39 0 0 27 10 27.027 SPHK2 0 genome.wustl.edu 37 19 49132082 49132082 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 49132082 49132082 C T SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known silent c.1203 p.F401 0.918 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 104 0 0 88 44 33.3333 FUT1 0 genome.wustl.edu 37 19 49253910 49253910 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 49253910 49253910 C T SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known missense c.629 p.R210H 0.000 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 173 0 0 123 69 35.9375 PPFIA3 0 genome.wustl.edu 37 19 49633741 49633741 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 49633741 49633741 G A SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.764 p.R255H 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 9 0 0 6 7 53.8462 MED25 0 genome.wustl.edu 37 19 50332236 50332236 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 50332236 50332236 G T SNP MED25 ENST00000312865 human ensembl 74_37 +1 known silent c.414 p.T138 0.080 pfam_Mediator_Med25_VWA pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 60 0 0 65 6 8.4507 NUP62 0 genome.wustl.edu 37 19 50411536 50411536 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 50411536 50411536 C T SNP NUP62 ENST00000352066 human ensembl 74_37 -1 known missense c.1529 p.R510H 1.000 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 57 0 0 40 14 25.9259 POLD1 0 genome.wustl.edu 37 19 50918097 50918097 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 50918097 50918097 G A SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.2414 p.S805N 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 59 0 0 50 10 16.6667 KDM4B 0 genome.wustl.edu 37 19 5110750 5110750 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 5110750 5110750 C T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.1036 p.R346W 0.992 NULL 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 KDM4B HGNC ENSG00000127663 24 0 0 17 12 41.3793 ZNF578 0 genome.wustl.edu 37 19 53015138 53015138 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 53015138 53015138 C T SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.1504 p.R502C 0.116 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 ZNF578 HGNC ENSG00000258405 174 0 0 109 37 25.3425 ZNF415 0 genome.wustl.edu 37 19 53611976 53611976 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 53611976 53611976 T C SNP ZNF415 ENST00000448501 human ensembl 74_37 -1 known missense c.1466 p.K489R 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 323 0 0 241 102 29.7376 VN1R4 0 genome.wustl.edu 37 19 53770718 53770718 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 53770718 53770718 T C SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known silent c.201 p.A67 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 89 0 0 55 13 19.1176 ZNF765 0 genome.wustl.edu 37 19 53901257 53901257 + RNA SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 53901257 53901257 A G SNP ZNF765 ENST00000504146 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF765 HGNC ENSG00000196417 132 0 0 85 26 23.4234 LENG8 0 genome.wustl.edu 37 19 54967257 54967257 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 54967257 54967257 G A SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known silent c.1137 p.P379 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 39 0 0 28 11 28.2051 LILRB1 0 genome.wustl.edu 37 19 55144563 55144563 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 55144563 55144563 T C SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.1055 p.M352T 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 128 0 0 91 34 27.2 SYT5 0 genome.wustl.edu 37 19 55686555 55686555 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 55686555 55686555 C T SNP SYT5 ENST00000354308 human ensembl 74_37 -1 known silent c.693 p.A231 0.443 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC ENSG00000129990 13 0 0 16 8 33.3333 ZNF628 0 genome.wustl.edu 37 19 55994335 55994335 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 55994335 55994335 G A SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.1775 p.R592Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 23 0 0 16 10 38.4615 ZNF543 0 genome.wustl.edu 37 19 57839961 57839961 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 57839961 57839961 C T SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known silent c.1131 p.C377 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 ZNF543 HGNC ENSG00000178229 92 0 0 75 16 17.5824 ZNF671 0 genome.wustl.edu 37 19 58232616 58232616 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 58232616 58232616 T C SNP ZNF671 ENST00000317398 human ensembl 74_37 -1 known missense c.838 p.M280V 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 ZNF671 HGNC ENSG00000083814 121 0 0 87 45 34.0909 ZSCAN1 0 genome.wustl.edu 37 19 58565272 58565272 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 58565272 58565272 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known silent c.1080 p.S360 0.004 NULL 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 ZSCAN1 HGNC ENSG00000152467 26 0 0 25 11 30.5556 MZF1 0 genome.wustl.edu 37 19 59074394 59074394 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 59074394 59074394 C A SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known missense c.1250 p.C417F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 MZF1 HGNC ENSG00000099326 25 0 0 16 12 42.8571 RPL23AP79 0 genome.wustl.edu 37 19 59097618 59097618 + RNA SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 59097618 59097618 G A SNP RPL23AP79 ENST00000473164 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors RPL23AP79 HGNC ENSG00000213753 18 0 0 13 4 23.5294 POLRMT 0 genome.wustl.edu 37 19 617821 617821 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 617821 617821 C T SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.3451 p.D1151N 1.000 pfam_DNA-dir_Rpol_phage-type pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 32 0 0 41 12 22.6415 CD70 0 genome.wustl.edu 37 19 6590986 6590986 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 6590986 6590986 C T SNP CD70 ENST00000245903 human ensembl 74_37 -1 known missense c.28 p.V10M 0.000 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors CD70 HGNC ENSG00000125726 71 0 0 56 24 30 EVI5L 0 genome.wustl.edu 37 19 7928374 7928374 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 7928374 7928374 C T SNP EVI5L ENST00000538904 human ensembl 74_37 +1 known missense c.2204 p.A735V 0.994 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 12 0 0 7 3 30 MAP2K7 0 genome.wustl.edu 37 19 7975260 7975260 + Splice_Site SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 7975260 7975260 T C SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known splice_site c.573+2 e4+2 1.000 - - - no_errors MAP2K7 HGNC ENSG00000076984 21 0 0 17 8 32 MAP2K7 0 genome.wustl.edu 37 19 7975970 7975970 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 7975970 7975970 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.907 p.D303N 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 MAP2K7 HGNC ENSG00000076984 32 0 0 27 12 30.7692 FBN3 0 genome.wustl.edu 37 19 8194245 8194245 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 8194245 8194245 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.2049 p.I683 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_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 65 0 0 50 24 32.4324 MUC16 0 genome.wustl.edu 37 19 9024942 9024942 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 9024942 9024942 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.36920 p.D12307G 0.001 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 115 0 0 89 12 11.8812 MUC16 0 genome.wustl.edu 37 19 9046900 9046900 + Nonsense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 9046900 9046900 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known nonsense c.34731 p.W11577* 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 108 0 0 102 7 6.42202 MUC16 0 genome.wustl.edu 37 19 9068944 9068944 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 9068944 9068944 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.18502 p.G6168C 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 106 0 0 91 24 20.8696 MUC16 0 genome.wustl.edu 37 19 9076908 9076908 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 9076908 9076908 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.10538 p.A3513V 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 213 0 0 160 44 21.5686 IL18R1 0 genome.wustl.edu 37 2 102998141 102998141 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 102998141 102998141 A G SNP IL18R1 ENST00000233957 human ensembl 74_37 +1 known silent c.687 p.L229 1.000 smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL18R1 HGNC ENSG00000115604 95 0 0 61 19 23.75 RANBP2 0 genome.wustl.edu 37 2 109367742 109367742 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 109367742 109367742 T C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known silent c.1296 p.G432 0.987 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 300 0 0 211 77 26.7361 IL1B 0 genome.wustl.edu 37 2 113591101 113591101 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 113591101 113591101 G A SNP IL1B ENST00000263341 human ensembl 74_37 -1 known nonsense c.151 p.R51* 0.079 pfam_IL-1_propep,prints_IL-1_beta pfam_IL-1,pfam_IL-1_propep,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_beta,prints_IL-1_alpha/beta,prints_IL-1,prints_IL-1_fam/FGF_fam,prints_IL-1RA/IL-36 - no_errors IL1B HGNC ENSG00000125538 145 0 0 94 54 36.4865 MYO7B 0 genome.wustl.edu 37 2 128322852 128322852 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 128322852 128322852 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.177 p.M59I 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,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_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 62 0 0 41 15 26.7857 TUBA3D 0 genome.wustl.edu 37 2 132240260 132240260 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 132240260 132240260 A G SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known missense c.1192 p.M398V 1.000 superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 272 0 0 195 61 23.8281 TPO 0 genome.wustl.edu 37 2 1497702 1497702 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 1497702 1497702 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.1897 p.D633N 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr 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 52 0 0 41 13 24.0741 KIF5C 0 genome.wustl.edu 37 2 149864536 149864536 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 149864536 149864536 C A SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known silent c.2505 p.S835 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 63 0 0 42 29 40.8451 NMI 0 genome.wustl.edu 37 2 152132079 152132079 + Missense_Mutation SNP G G C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 152132079 152132079 G C SNP NMI ENST00000243346 human ensembl 74_37 -1 known missense c.553 p.R185G 0.340 pfam_Nmi/IFP35_dom pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N - no_errors NMI HGNC ENSG00000123609 171 0 0 125 50 28.5714 NEB 0 genome.wustl.edu 37 2 152470851 152470851 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 152470851 152470851 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.11540 p.T3847I 0.002 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 210 0 0 149 55 26.9608 LY75 0 genome.wustl.edu 37 2 160697448 160697448 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 160697448 160697448 G A SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.3299 p.T1100M 0.029 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 346 0 0 348 19 5.17711 PXDN 0 genome.wustl.edu 37 2 1639256 1639256 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 1639256 1639256 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.4244 p.C1415Y 1.000 smart_VWF_C,pfscan_VWF_C pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 21 0 0 26 3 10.3448 COBLL1 0 genome.wustl.edu 37 2 165551508 165551508 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 165551508 165551508 C T SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known silent c.2709 p.P903 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 226 0 0 143 57 28.5 SCN3A 0 genome.wustl.edu 37 2 165987821 165987821 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 165987821 165987821 C T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.2498 p.S833N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 251 0 0 214 26 10.8333 LRP2 0 genome.wustl.edu 37 2 170103223 170103223 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 170103223 170103223 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.3182 p.G1061D 0.988 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 506 1 0.197239 347 150 30.1811 OLA1 0 genome.wustl.edu 37 2 174987938 174987938 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 174987938 174987938 T C SNP OLA1 ENST00000284719 human ensembl 74_37 -1 known missense c.698 p.E233G 1.000 superfamily_P-loop_NTPase,pirsf_CHP00092,tigrfam_CHP00092 pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 - no_errors OLA1 HGNC ENSG00000138430 70 0 0 63 17 21.25 EVX2 0 genome.wustl.edu 37 2 176948225 176948225 + Missense_Mutation SNP A A C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 176948225 176948225 A C SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known missense c.280 p.S94A 0.996 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 33 0 0 28 5 15.1515 TTN 0 genome.wustl.edu 37 2 179401671 179401671 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 179401671 179401671 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.92461 p.P30821T 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 28 0 0 34 3 8.10811 TTN 0 genome.wustl.edu 37 2 179583963 179583963 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 179583963 179583963 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.20422 p.T6808A 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-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 106 1 0.934579 82 34 29.3103 TTN 0 genome.wustl.edu 37 2 179594857 179594857 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 179594857 179594857 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.14538 p.V4846 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-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 48 0 0 40 18 31.0345 TTN 0 genome.wustl.edu 37 2 179612275 179612275 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 179612275 179612275 T C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.14852 p.Y4951C 0.994 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 219 0 0 216 21 8.86076 SESTD1 0 genome.wustl.edu 37 2 179989230 179989230 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 179989230 179989230 G A SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known missense c.1028 p.A343V 0.995 NULL superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 108 0 0 74 35 32.1101 NEUROD1 0 genome.wustl.edu 37 2 182543334 182543334 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 182543334 182543334 C T SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known missense c.254 p.G85D 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 33 0 0 43 3 6.52174 MYO1B 0 genome.wustl.edu 37 2 192265123 192265123 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 192265123 192265123 C T SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known missense c.2311 p.R771W 1.000 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS 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 MYO1B HGNC ENSG00000128641 162 0 0 99 45 31.25 DNAH7 0 genome.wustl.edu 37 2 196723270 196723270 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 196723270 196723270 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.7995 p.C2665 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 96 0 0 77 22 22.2222 DNAH7 0 genome.wustl.edu 37 2 196729215 196729215 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 196729215 196729215 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.7164 p.A2388 0.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 193 0 0 101 42 29.3706 HECW2 0 genome.wustl.edu 37 2 197183522 197183522 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 197183522 197183522 G A SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known nonsense c.2092 p.Q698* 0.997 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 67 0 0 55 15 21.4286 HECW2 0 genome.wustl.edu 37 2 197183576 197183576 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 197183576 197183576 C T SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.2038 p.E680K 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 62 0 0 44 18 29.0323 COQ10B 0 genome.wustl.edu 37 2 198334842 198334842 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 198334842 198334842 C T SNP COQ10B ENST00000263960 human ensembl 74_37 +1 known missense c.496 p.R166C 1.000 pfam_Polyket_cyc pfam_Polyket_cyc - no_errors COQ10B HGNC ENSG00000115520 125 0 0 85 27 24.1071 BOLL 0 genome.wustl.edu 37 2 198621225 198621225 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 198621225 198621225 T C SNP BOLL ENST00000321801 human ensembl 74_37 -1 known missense c.692 p.Q231R 1.000 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC ENSG00000152430 75 0 0 57 27 32.1429 BOLL 0 genome.wustl.edu 37 2 198622118 198622118 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 198622118 198622118 T C SNP BOLL ENST00000321801 human ensembl 74_37 -1 known missense c.595 p.T199A 0.873 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC ENSG00000152430 105 0 0 75 28 27.1845 C2orf69 0 genome.wustl.edu 37 2 200789807 200789807 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 200789807 200789807 G A SNP C2orf69 ENST00000319974 human ensembl 74_37 +1 known missense c.356 p.R119H 0.794 pfam_UPF0565 pfam_UPF0565 - no_errors C2orf69 HGNC ENSG00000178074 51 0 0 37 18 32.7273 CLK1 0 genome.wustl.edu 37 2 201722492 201722492 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 201722492 201722492 G A SNP CLK1 ENST00000321356 human ensembl 74_37 -1 known nonsense c.781 p.R261* 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 CLK1 HGNC ENSG00000013441 142 0 0 82 32 28.0702 PARD3B 0 genome.wustl.edu 37 2 205986445 205986445 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 205986445 205986445 G A SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.937 p.V313I 0.010 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 156 0 0 115 50 30.303 CREB1 0 genome.wustl.edu 37 2 208420450 208420450 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 208420450 208420450 C T SNP CREB1 ENST00000432329 human ensembl 74_37 +1 known missense c.91 p.P31S 1.000 NULL pfam_Coactivator_CBP_pKID,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB1 HGNC ENSG00000118260 45 0 0 32 3 8.57143 C2orf80 0 genome.wustl.edu 37 2 209045991 209045991 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 209045991 209045991 C T SNP C2orf80 ENST00000341287 human ensembl 74_37 -1 known missense c.245 p.R82H 0.030 NULL NULL - no_errors C2orf80 HGNC ENSG00000188674 149 0 0 125 49 28.1609 FN1 0 genome.wustl.edu 37 2 216236885 216236885 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 216236885 216236885 G T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.6461 p.P2154H 1.000 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 118 0 0 88 28 24.1379 TNS1 0 genome.wustl.edu 37 2 218762658 218762658 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 218762658 218762658 A G SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.31 p.C11R 1.000 pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 42 0 0 45 12 21.0526 CXCR2P1 0 genome.wustl.edu 37 2 218925585 218925585 + RNA SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 218925585 218925585 A G SNP CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CXCR2P1 HGNC ENSG00000229754 47 0 0 45 28 38.3562 CXCR2P1 0 genome.wustl.edu 37 2 218925711 218925711 + RNA SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 218925711 218925711 A G SNP CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CXCR2P1 HGNC ENSG00000229754 27 0 0 32 4 11.1111 ABCB6 0 genome.wustl.edu 37 2 220078361 220078361 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 220078361 220078361 A G SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known missense c.1606 p.Y536H 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 ABCB6 HGNC ENSG00000115657 120 0 0 102 40 28.169 SPEG 0 genome.wustl.edu 37 2 220348655 220348655 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 220348655 220348655 G T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.6470 p.G2157V 0.980 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 SPEG HGNC ENSG00000072195 27 0 0 19 9 32.1429 TMEM198 0 genome.wustl.edu 37 2 220414512 220414512 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 220414512 220414512 C T SNP TMEM198 ENST00000344458 human ensembl 74_37 +1 known missense c.1019 p.A340V 0.961 NULL NULL - no_errors TMEM198 HGNC ENSG00000188760 104 1 0.952381 81 29 26.3636 STK11IP 0 genome.wustl.edu 37 2 220466796 220466796 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 220466796 220466796 G T SNP STK11IP ENST00000456909 human ensembl 74_37 +1 novel missense c.429 p.Q143H 0.806 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 17 0 0 19 10 34.4828 SLC4A3 0 genome.wustl.edu 37 2 220496734 220496734 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 220496734 220496734 A G SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.937 p.K313E 1.000 NULL 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 73 0 0 51 22 30.137 SLC19A3 0 genome.wustl.edu 37 2 228564113 228564113 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 228564113 228564113 C T SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known missense c.318 p.M106I 1.000 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 200 0 0 135 65 32.5 NEU2 0 genome.wustl.edu 37 2 233899156 233899156 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 233899156 233899156 G A SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known missense c.532 p.A178T 1.000 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 63 0 0 51 19 27.1429 HDAC4 0 genome.wustl.edu 37 2 240078398 240078398 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 240078398 240078398 G A SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.683 p.P228L 1.000 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 122 0 0 77 33 30 THAP4 0 genome.wustl.edu 37 2 242572334 242572334 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 242572334 242572334 C T SNP THAP4 ENST00000407315 human ensembl 74_37 -1 known missense c.1238 p.R413H 0.954 NULL pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 27 0 0 20 3 13.0435 NCOA1 0 genome.wustl.edu 37 2 24930579 24930579 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 24930579 24930579 A G SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.2240 p.Q747R 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 97 0 0 63 24 27.5862 PTRHD1 0 genome.wustl.edu 37 2 25013233 25013233 + RNA SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 25013233 25013233 T C SNP PTRHD1 ENST00000474668 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors PTRHD1 HGNC ENSG00000184924 66 0 0 52 25 32.4675 OTOF 0 genome.wustl.edu 37 2 26750774 26750774 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 26750774 26750774 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.153 p.P51 0.007 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 64 0 0 56 19 25.3333 FNDC4 0 genome.wustl.edu 37 2 27716887 27716887 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 27716887 27716887 C T SNP FNDC4 ENST00000264703 human ensembl 74_37 -1 known missense c.364 p.G122S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC4 HGNC ENSG00000115226 106 0 0 74 46 38.3333 EHD3 0 genome.wustl.edu 37 2 31467249 31467249 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 31467249 31467249 G A SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known missense c.337 p.A113T 1.000 pfam_Dynamin_GTPase,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 61 0 0 32 17 34.6939 NLRC4 0 genome.wustl.edu 37 2 32466128 32466128 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 32466128 32466128 A G SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.2324 p.M775T 0.999 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 98 0 0 65 19 22.619 SIX3 0 genome.wustl.edu 37 2 45169609 45169609 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 45169609 45169609 C T SNP SIX3 ENST00000260653 human ensembl 74_37 +1 known silent c.366 p.C122 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 12 0 0 15 10 40 FBXO11 0 genome.wustl.edu 37 2 48035330 48035330 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 48035330 48035330 T C SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known missense c.2711 p.E904G 1.000 pfscan_Znf_N-recognin pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 346 2 0.574713 238 97 28.9552 NRXN1 0 genome.wustl.edu 37 2 50318473 50318473 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 50318473 50318473 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.3682 p.R1228C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 345 1 0.289017 226 101 30.8869 CCT4 0 genome.wustl.edu 37 2 62099382 62099382 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 62099382 62099382 T C SNP CCT4 ENST00000394440 human ensembl 74_37 -1 known silent c.1326 p.T442 0.715 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_delta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta - no_errors CCT4 HGNC ENSG00000115484 116 0 0 99 37 27.2059 EHBP1 0 genome.wustl.edu 37 2 63169987 63169987 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 63169987 63169987 T C SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known silent c.1425 p.G475 0.761 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 177 0 0 138 57 29.2308 ENSG00000273398 0 genome.wustl.edu 37 2 68385209 68385209 + Missense_Mutation SNP A A T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 68385209 68385209 A T SNP ENSG00000273398 ENST00000406334 human ensembl 74_37 -1 known missense c.481 p.S161T 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RP11-474G23.1 Clone_based_vega_gene ENSG00000273398 21 0 0 19 9 32.1429 SFXN5 0 genome.wustl.edu 37 2 73268057 73268057 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 73268057 73268057 G A SNP SFXN5 ENST00000272433 human ensembl 74_37 -1 known missense c.175 p.R59C 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN5 HGNC ENSG00000144040 62 0 0 30 10 25 SLC4A5 0 genome.wustl.edu 37 2 74475528 74475528 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 74475528 74475528 C T SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known missense c.1739 p.S580N 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 51 0 0 46 19 29.2308 MOGS 0 genome.wustl.edu 37 2 74689928 74689928 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 74689928 74689928 T C SNP MOGS ENST00000233616 human ensembl 74_37 -1 known missense c.988 p.I330V 1.000 pfam_Glycoside_hydrolase_63 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 307 0 0 234 108 31.5789 LOXL3 0 genome.wustl.edu 37 2 74779707 74779707 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 74779707 74779707 G A SNP LOXL3 ENST00000264094 human ensembl 74_37 -1 known silent c.55 p.L19 0.898 NULL pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL3 HGNC ENSG00000115318 21 0 0 13 8 38.0952 ASAP2 0 genome.wustl.edu 37 2 9531313 9531313 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 9531313 9531313 G A SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known missense c.2506 p.V836M 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 245 0 0 141 74 34.4186 ITGB1BP1 0 genome.wustl.edu 37 2 9558782 9558782 + Missense_Mutation SNP T T A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 9558782 9558782 T A SNP ITGB1BP1 ENST00000355346 human ensembl 74_37 -1 known missense c.45 p.Q15H 0.997 pfam_Integrin-bd_ICAP-1 pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom - no_errors ITGB1BP1 HGNC ENSG00000119185 631 0 0 420 157 27.2097 CNNM3 0 genome.wustl.edu 37 2 97498336 97498336 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 97498336 97498336 C T SNP CNNM3 ENST00000305510 human ensembl 74_37 +1 known missense c.2107 p.R703W 1.000 NULL pfam_DUF21,superfamily_RNA_pol_subH/Rpb5_C,superfamily_cNMP-bd-like - no_errors CNNM3 HGNC ENSG00000168763 264 1 0.377358 180 86 32.3308 VWA3B 0 genome.wustl.edu 37 2 98844745 98844745 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 98844745 98844745 G T SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.2100 p.E700D 0.993 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 169 0 0 121 49 28.8235 NDUFAF5 0 genome.wustl.edu 37 20 13773858 13773858 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 13773858 13773858 T C SNP NDUFAF5 ENST00000463598 human ensembl 74_37 +1 known missense c.380 p.L127S 1.000 NULL NULL - no_errors NDUFAF5 HGNC ENSG00000101247 199 0 0 186 10 5.10204 NSFL1C 0 genome.wustl.edu 37 20 1444988 1444988 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 1444988 1444988 T C SNP NSFL1C ENST00000350991 human ensembl 74_37 -1 known silent c.189 p.R63 1.000 NULL pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors NSFL1C HGNC ENSG00000088833 319 0 0 221 82 27.0627 OTOR 0 genome.wustl.edu 37 20 16729076 16729076 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 16729076 16729076 G A SNP OTOR ENST00000246081 human ensembl 74_37 +1 known silent c.30 p.P10 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors OTOR HGNC ENSG00000125879 373 0 0 223 95 29.8742 DSTN 0 genome.wustl.edu 37 20 17587777 17587777 + Nonsense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 17587777 17587777 G T SNP DSTN ENST00000246069 human ensembl 74_37 +1 known nonsense c.484 p.G162* 1.000 prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC ENSG00000125868 179 0 0 108 35 24.4755 CD93 0 genome.wustl.edu 37 20 23065495 23065495 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 23065495 23065495 G A SNP CD93 ENST00000246006 human ensembl 74_37 -1 known silent c.1335 p.N445 0.287 pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 121 0 0 96 40 29.4118 GZF1 0 genome.wustl.edu 37 20 23346303 23346303 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 23346303 23346303 C T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.1283 p.T428I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 44 0 0 25 11 30.5556 BPIFB3 0 genome.wustl.edu 37 20 31656644 31656644 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 31656644 31656644 A G SNP BPIFB3 ENST00000375494 human ensembl 74_37 +1 known silent c.1014 p.L338 0.662 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C 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 BPIFB3 HGNC ENSG00000186190 93 0 0 82 6 6.81818 C20orf194 0 genome.wustl.edu 37 20 3362099 3362099 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 3362099 3362099 A G SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known silent c.210 p.Y70 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 137 0 0 119 38 24.2038 CPNE1 0 genome.wustl.edu 37 20 34214277 34214277 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 34214277 34214277 G A SNP CPNE1 ENST00000317677 human ensembl 74_37 -1 known silent c.1515 p.T505 0.508 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 170 0 0 112 37 24.8322 RBL1 0 genome.wustl.edu 37 20 35668582 35668582 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 35668582 35668582 C T SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known missense c.1877 p.R626Q 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 258 0 0 187 69 26.9531 PANK2 0 genome.wustl.edu 37 20 3897602 3897602 + Nonsense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 3897602 3897602 C T SNP PANK2 ENST00000316562 human ensembl 74_37 +1 known nonsense c.1441 p.R481* 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK2 HGNC ENSG00000125779 99 0 0 68 30 30.6122 PLCG1 0 genome.wustl.edu 37 20 39791364 39791364 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 39791364 39791364 C T SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.680 p.T227M 1.000 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 26 0 0 19 7 26.9231 KCNK15 0 genome.wustl.edu 37 20 43379051 43379051 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 43379051 43379051 G A SNP KCNK15 ENST00000372861 human ensembl 74_37 +1 known missense c.565 p.A189T 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl - no_errors KCNK15 HGNC ENSG00000124249 51 0 0 38 20 34.4828 MATN4 0 genome.wustl.edu 37 20 43926646 43926646 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 43926646 43926646 C T SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known silent c.1614 p.S538 0.087 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 47 0 0 44 12 21.4286 MATN4 0 genome.wustl.edu 37 20 43926973 43926973 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 43926973 43926973 G A SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known silent c.1386 p.G462 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 65 0 0 48 25 34.2466 TP53TG5 0 genome.wustl.edu 37 20 44003782 44003782 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 44003782 44003782 G A SNP TP53TG5 ENST00000372726 human ensembl 74_37 -1 known missense c.665 p.A222V 0.975 NULL NULL - no_errors TP53TG5 HGNC ENSG00000124251 88 0 0 72 34 32.0755 PCIF1 0 genome.wustl.edu 37 20 44569462 44569462 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 44569462 44569462 G A SNP PCIF1 ENST00000372409 human ensembl 74_37 +1 known silent c.402 p.V134 0.965 NULL pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PCIF1 HGNC ENSG00000100982 129 0 0 104 43 29.2517 ZMYND8 0 genome.wustl.edu 37 20 45905096 45905096 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 45905096 45905096 G A SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.1463 p.A488V 0.999 pfam_DUF3544 pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 49 0 0 52 9 14.7541 STAU1 0 genome.wustl.edu 37 20 47734382 47734382 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 47734382 47734382 C T SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known missense c.1441 p.V481I 0.768 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 82 0 0 65 42 39.2523 RASSF2 0 genome.wustl.edu 37 20 4776521 4776521 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 4776521 4776521 C T SNP RASSF2 ENST00000379376 human ensembl 74_37 -1 known missense c.227 p.R76H 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF2 HGNC ENSG00000101265 169 0 0 116 56 32.5581 KCNG1 0 genome.wustl.edu 37 20 49626173 49626173 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 49626173 49626173 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.703 p.L235F 1.000 prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 11 0 0 5 4 44.4444 SALL4 0 genome.wustl.edu 37 20 50406892 50406892 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 50406892 50406892 C T SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known silent c.2130 p.T710 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 63 0 0 57 13 18.5714 CASS4 0 genome.wustl.edu 37 20 55033652 55033652 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 55033652 55033652 G A SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.2210 p.S737N 1.000 pfam_CAS_DUF3513 pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 52 0 0 35 11 23.913 BMP7 0 genome.wustl.edu 37 20 55840772 55840772 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 55840772 55840772 A G SNP BMP7 ENST00000395863 human ensembl 74_37 -1 known missense c.407 p.F136S 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP7 HGNC ENSG00000101144 10 0 0 12 4 25 PHACTR3 0 genome.wustl.edu 37 20 58348498 58348498 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 58348498 58348498 C T SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.916 p.R306C 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 26 0 0 16 4 20 CDH4 0 genome.wustl.edu 37 20 60503309 60503309 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 60503309 60503309 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.1833 p.N611 0.939 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 336 0 0 247 94 27.566 LAMA5 0 genome.wustl.edu 37 20 60904112 60904112 + Splice_Site SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 60904112 60904112 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known splice_site c.4236-1 e34-1 1.000 - - - no_errors LAMA5 HGNC ENSG00000130702 56 0 0 52 22 29.7297 COL20A1 0 genome.wustl.edu 37 20 61959716 61959716 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 61959716 61959716 A G SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.3743 p.N1248S 0.091 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 20 0 0 13 6 31.5789 EEF1A2 0 genome.wustl.edu 37 20 62126345 62126345 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 62126345 62126345 A G SNP EEF1A2 ENST00000217182 human ensembl 74_37 -1 known missense c.434 p.V145A 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 89 0 0 88 23 20.7207 BAGE2 0 genome.wustl.edu 37 21 11098836 11098836 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 11098836 11098836 C T SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors BAGE2 HGNC ENSG00000187172 20 0 0 21 4 16 ANKRD20A11P 0 genome.wustl.edu 37 21 15352090 15352090 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 15352090 15352090 C T SNP ANKRD20A11P ENST00000344693 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 34 0 0 16 3 15.7895 SON 0 genome.wustl.edu 37 21 34921957 34921957 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 34921957 34921957 G A SNP SON ENST00000356577 human ensembl 74_37 +1 known silent c.420 p.T140 0.934 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 89 0 0 74 22 22.9167 DOPEY2 0 genome.wustl.edu 37 21 37597930 37597930 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 37597930 37597930 G A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.1438 p.A480T 0.067 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 85 0 0 61 27 30.6818 DOPEY2 0 genome.wustl.edu 37 21 37603085 37603085 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 37603085 37603085 C T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.2003 p.T668M 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 108 0 0 89 22 19.8198 ZBTB21 0 genome.wustl.edu 37 21 43411449 43411449 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 43411449 43411449 G A SNP ZBTB21 ENST00000310826 human ensembl 74_37 -1 known missense c.2756 p.T919M 0.798 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 135 0 0 113 54 32.3353 RSPH1 0 genome.wustl.edu 37 21 43897412 43897412 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 43897412 43897412 G A SNP RSPH1 ENST00000291536 human ensembl 74_37 -1 known missense c.716 p.P239L 0.000 NULL pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 100 1 0.990099 76 34 30.9091 PDXK 0 genome.wustl.edu 37 21 45175603 45175603 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 45175603 45175603 A G SNP PDXK ENST00000291565 human ensembl 74_37 +1 known missense c.784 p.T262A 0.999 pfam_PfkB_dom,pfam_HMP-P_kinase-1,tigrfam_PyrdxlP_synth_PyrdxlKinase pfam_PfkB_dom,pfam_HMP-P_kinase-1,tigrfam_PyrdxlP_synth_PyrdxlKinase - no_errors PDXK HGNC ENSG00000160209 103 0 0 72 40 35.7143 TRPM2 0 genome.wustl.edu 37 21 45833838 45833838 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 45833838 45833838 C A SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known silent c.3027 p.P1009 0.003 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 374 0 0 381 44 10.3529 PCNT 0 genome.wustl.edu 37 21 47754538 47754538 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 47754538 47754538 A G SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.495 p.P165 0.002 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 131 0 0 157 9 5.42169 PCNT 0 genome.wustl.edu 37 21 47855992 47855992 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 47855992 47855992 A G SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.8927 p.E2976G 0.998 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 70 0 0 76 6 7.31707 MICAL3 0 genome.wustl.edu 37 22 18300751 18300751 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 18300751 18300751 G A SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.4676 p.P1559L 0.002 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 15 0 0 21 9 30 TXNRD2 0 genome.wustl.edu 37 22 19898899 19898899 + Splice_Site SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 19898899 19898899 C T SNP TXNRD2 ENST00000535882 human ensembl 74_37 -1 known splice_site c.659+1 e8+1 1.000 - - - no_errors TXNRD2 HGNC ENSG00000184470 85 0 0 63 24 27.5862 TRMT2A 0 genome.wustl.edu 37 22 20100980 20100980 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 20100980 20100980 G A SNP TRMT2A ENST00000252136 human ensembl 74_37 -1 known silent c.1407 p.D469 1.000 pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC ENSG00000099899 30 0 0 19 6 24 KLHL22 0 genome.wustl.edu 37 22 20819491 20819491 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 20819491 20819491 G A SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known missense c.766 p.R256W 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 46 0 0 40 15 27.2727 KLHL22 0 genome.wustl.edu 37 22 20825700 20825700 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 20825700 20825700 G T SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known silent c.330 p.T110 0.819 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 128 1 0.775194 95 54 36.2416 PPM1F 0 genome.wustl.edu 37 22 22285570 22285570 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 22285570 22285570 G A SNP PPM1F ENST00000263212 human ensembl 74_37 -1 known nonsense c.841 p.Q281* 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1F HGNC ENSG00000100034 106 0 0 98 24 19.6721 MYO18B 0 genome.wustl.edu 37 22 26423430 26423430 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 26423430 26423430 A G SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.7490 p.E2497G 0.003 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 57 0 0 37 18 32.7273 TPST2 0 genome.wustl.edu 37 22 26937534 26937534 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 26937534 26937534 C T SNP TPST2 ENST00000338754 human ensembl 74_37 -1 known silent c.63 p.A21 0.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 12 0 0 14 7 33.3333 AP1B1 0 genome.wustl.edu 37 22 29754808 29754808 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 29754808 29754808 G A SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known silent c.432 p.C144 0.954 pfam_Clathrin/coatomer_adapt-like_N,pfam_HEAT,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 101 0 0 72 35 32.7103 DEPDC5 0 genome.wustl.edu 37 22 32302472 32302472 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 32302472 32302472 A G SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.4735 p.S1579G 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 236 0 0 168 60 26.3158 LARGE 0 genome.wustl.edu 37 22 33700243 33700243 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 33700243 33700243 G A SNP LARGE ENST00000354992 human ensembl 74_37 -1 known missense c.1702 p.P568S 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 151 0 0 100 39 28.0576 APOL3 0 genome.wustl.edu 37 22 36537420 36537420 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 36537420 36537420 C T SNP APOL3 ENST00000349314 human ensembl 74_37 -1 known missense c.1037 p.G346D 0.569 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 109 0 0 74 33 30.8411 TRIOBP 0 genome.wustl.edu 37 22 38165162 38165162 + Nonsense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 38165162 38165162 C T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known nonsense c.6703 p.Q2235* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 21 0 0 21 7 25 MKL1 0 genome.wustl.edu 37 22 40814864 40814864 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 40814864 40814864 C T SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known missense c.1578 p.M526I 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 48 0 0 37 18 32.7273 RRP7A 0 genome.wustl.edu 37 22 42908940 42908940 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 42908940 42908940 G A SNP RRP7A ENST00000323013 human ensembl 74_37 -1 known silent c.819 p.A273 1.000 NULL NULL - no_errors RRP7A HGNC ENSG00000189306 38 0 0 48 8 14.2857 EFCAB6 0 genome.wustl.edu 37 22 43926756 43926756 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 43926756 43926756 C T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.4322 p.R1441H 0.952 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 106 0 0 90 32 26.2295 FAM118A 0 genome.wustl.edu 37 22 45719228 45719228 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 45719228 45719228 G A SNP FAM118A ENST00000216214 human ensembl 74_37 +1 known missense c.220 p.V74I 0.902 NULL superfamily_RNaseH-like_dom - no_errors FAM118A HGNC ENSG00000100376 102 0 0 79 31 28.1818 WNT7B 0 genome.wustl.edu 37 22 46318884 46318884 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 46318884 46318884 G A SNP WNT7B ENST00000339464 human ensembl 74_37 -1 known missense c.902 p.A301V 0.946 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 84 0 0 76 26 25.4902 PANX2 0 genome.wustl.edu 37 22 50609382 50609382 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 50609382 50609382 G A SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known missense c.223 p.A75T 1.000 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 9 0 0 4 3 42.8571 ARSA 0 genome.wustl.edu 37 22 51065135 51065135 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 51065135 51065135 G A SNP ARSA ENST00000216124 human ensembl 74_37 -1 known silent c.738 p.R246 0.020 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSA HGNC ENSG00000100299 74 0 0 51 22 30.137 ATP2B2 0 genome.wustl.edu 37 3 10401789 10401789 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 10401789 10401789 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.1678 p.A560T 1.000 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 56 0 0 45 26 36.6197 DPPA4 0 genome.wustl.edu 37 3 109049268 109049268 + RNA SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 109049268 109049268 G A SNP DPPA4 ENST00000478791 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DPPA4 HGNC ENSG00000121570 32 0 0 18 14 43.75 SLC6A11 0 genome.wustl.edu 37 3 10979960 10979960 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 10979960 10979960 A G SNP SLC6A11 ENST00000254488 human ensembl 74_37 +1 known missense c.1771 p.S591G 1.000 NULL pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 115 0 0 63 26 29.2135 C3orf17 0 genome.wustl.edu 37 3 112724442 112724442 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 112724442 112724442 A G SNP C3orf17 ENST00000314400 human ensembl 74_37 -1 known missense c.1645 p.S549P 0.000 NULL NULL - no_errors C3orf17 HGNC ENSG00000163608 250 0 0 162 46 22.1154 MAATS1 0 genome.wustl.edu 37 3 119434506 119434506 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 119434506 119434506 G A SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known missense c.598 p.V200I 0.794 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 312 1 0.319489 224 94 29.5597 POLQ 0 genome.wustl.edu 37 3 121206287 121206287 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 121206287 121206287 C T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.5491 p.A1831T 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 263 0 0 204 72 26.087 SLC15A2 0 genome.wustl.edu 37 3 121647836 121647836 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 121647836 121647836 C T SNP SLC15A2 ENST00000489711 human ensembl 74_37 +1 known missense c.1349 p.P450L 0.796 pfam_POT_fam,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 319 0 0 209 72 25.6228 CD86 0 genome.wustl.edu 37 3 121838326 121838326 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 121838326 121838326 G A SNP CD86 ENST00000330540 human ensembl 74_37 +1 known missense c.935 p.R312H 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD86 HGNC ENSG00000114013 167 0 0 126 49 28 KALRN 0 genome.wustl.edu 37 3 124437898 124437898 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 124437898 124437898 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.8542 p.A2848T 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_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 83 0 0 60 28 31.8182 PLXND1 0 genome.wustl.edu 37 3 129289882 129289882 + Splice_Site SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 129289882 129289882 C T SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known splice_site c.3600+1 e18+1 1.000 - - - no_errors PLXND1 HGNC ENSG00000004399 245 0 0 204 59 22.4335 TRH 0 genome.wustl.edu 37 3 129694799 129694799 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 129694799 129694799 G A SNP TRH ENST00000302649 human ensembl 74_37 +1 known missense c.140 p.R47H 0.011 pfam_TRH,pirsf_TRH pfam_TRH,pirsf_TRH - no_errors TRH HGNC ENSG00000170893 21 0 0 19 11 36.6667 COL6A6 0 genome.wustl.edu 37 3 130289947 130289947 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 130289947 130289947 A G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.2687 p.D896G 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 43 0 0 28 11 28.2051 PIK3R4 0 genome.wustl.edu 37 3 130398201 130398201 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 130398201 130398201 G A SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known silent c.4035 p.I1345 0.765 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 93 0 0 71 30 29.703 SNORA58 0 genome.wustl.edu 37 3 131197993 131197993 + RNA SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 131197993 131197993 T C SNP SNORA58 ENST00000505219 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors SNORA58 HGNC ENSG00000249020 95 0 0 77 29 27.3585 C3orf36 0 genome.wustl.edu 37 3 133647384 133647384 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 133647384 133647384 C T SNP C3orf36 ENST00000408895 human ensembl 74_37 -1 known silent c.264 p.A88 0.000 NULL NULL - no_errors C3orf36 HGNC ENSG00000221972 24 0 0 17 4 19.0476 EPHB1 0 genome.wustl.edu 37 3 134880926 134880926 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 134880926 134880926 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.1489 p.R497W 0.964 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 131 0 0 87 36 29.2683 EPHB1 0 genome.wustl.edu 37 3 134968296 134968296 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 134968296 134968296 T C SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2809 p.F937L 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 124 0 0 113 29 20.4225 MSL2 0 genome.wustl.edu 37 3 135870677 135870677 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 135870677 135870677 C T SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known missense c.1046 p.S349N 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 132 0 0 116 29 20 FBLN2 0 genome.wustl.edu 37 3 13655590 13655590 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 13655590 13655590 G T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.1655 p.C552F 1.000 pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,pfscan_Anaphylatoxin/fibulin pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 82 0 0 63 28 30.7692 FOXL2 0 genome.wustl.edu 37 3 138665150 138665150 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 138665150 138665150 C T SNP FOXL2 ENST00000330315 human ensembl 74_37 -1 known missense c.415 p.E139K 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 FOXL2 HGNC ENSG00000183770 9 0 0 15 9 37.5 RBP2 0 genome.wustl.edu 37 3 139173610 139173610 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 139173610 139173610 G A SNP RBP2 ENST00000232217 human ensembl 74_37 -1 known silent c.315 p.R105 0.012 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP2 HGNC ENSG00000114113 209 0 0 155 63 28.8991 GRK7 0 genome.wustl.edu 37 3 141499527 141499527 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 141499527 141499527 T C SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known silent c.924 p.H308 0.983 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 GRK7 HGNC ENSG00000114124 81 0 0 59 21 26.25 CHST2 0 genome.wustl.edu 37 3 142840569 142840569 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 142840569 142840569 A G SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.911 p.K304R 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 17 0 0 9 4 30.7692 RNF13 0 genome.wustl.edu 37 3 149678725 149678725 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 149678725 149678725 C T SNP RNF13 ENST00000344229 human ensembl 74_37 +1 known missense c.980 p.S327L 0.996 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF13 HGNC ENSG00000082996 99 0 0 82 42 33.871 P2RY12 0 genome.wustl.edu 37 3 151056359 151056359 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 151056359 151056359 A G SNP P2RY12 ENST00000302632 human ensembl 74_37 -1 known missense c.275 p.L92P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors P2RY12 HGNC ENSG00000169313 177 0 0 123 51 29.3103 MED12L 0 genome.wustl.edu 37 3 151072930 151072930 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 151072930 151072930 C T SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.2315 p.A772V 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 134 0 0 93 45 32.6087 P2RY1 0 genome.wustl.edu 37 3 152553984 152553984 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 152553984 152553984 G A SNP P2RY1 ENST00000305097 human ensembl 74_37 +1 known missense c.413 p.S138N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn - no_errors P2RY1 HGNC ENSG00000169860 148 0 0 120 45 27.2727 CCNL1 0 genome.wustl.edu 37 3 156867298 156867298 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 156867298 156867298 T C SNP CCNL1 ENST00000295926 human ensembl 74_37 -1 known missense c.1109 p.Q370R 1.000 pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 238 0 0 262 15 5.41516 SMC4 0 genome.wustl.edu 37 3 160119879 160119879 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 160119879 160119879 A G SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.316 p.K106E 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,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 69 0 0 68 5 6.84932 SMC4 0 genome.wustl.edu 37 3 160142781 160142781 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 160142781 160142781 C T SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known silent c.2452 p.L818 0.064 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_Chemotax_Me-accpt_rcpt_lig-bd pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 49 0 0 32 14 30.4348 SI 0 genome.wustl.edu 37 3 164754250 164754250 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 164754250 164754250 T C SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.2442 p.L814 0.273 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 142 0 0 112 55 32.9341 SI 0 genome.wustl.edu 37 3 164786978 164786978 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 164786978 164786978 A G SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.261 p.I87 0.000 pfam_P_trefoil,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 85 0 0 59 21 26.25 BCHE 0 genome.wustl.edu 37 3 165548072 165548072 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 165548072 165548072 C A SNP BCHE ENST00000264381 human ensembl 74_37 -1 known silent c.750 p.L250 0.970 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 187 0 0 133 44 24.8588 SLC7A14 0 genome.wustl.edu 37 3 170218995 170218995 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 170218995 170218995 C T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known silent c.444 p.A148 0.999 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 55 0 0 46 28 37.8378 FNDC3B 0 genome.wustl.edu 37 3 172013305 172013305 + Splice_Site SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 172013305 172013305 G A SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known splice_site c.1001+1 e7+1 1.000 - - - no_errors FNDC3B HGNC ENSG00000075420 185 0 0 136 43 24.0223 PIK3CA 0 genome.wustl.edu 37 3 178927980 178927980 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 178927980 178927980 T C SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1258 p.C420R 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 192 0 0 130 51 28.1768 MCF2L2 0 genome.wustl.edu 37 3 183097179 183097179 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 183097179 183097179 C T SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known missense c.181 p.A61T 0.997 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 37 0 0 39 17 30.3571 DVL3 0 genome.wustl.edu 37 3 183882993 183882993 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 183882993 183882993 G A SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known missense c.692 p.R231Q 1.000 superfamily_PDZ pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 42 0 0 29 18 38.2979 VPS8 0 genome.wustl.edu 37 3 184570321 184570321 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 184570321 184570321 G A SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known missense c.787 p.D263N 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 126 0 0 97 29 23.0159 MASP1 0 genome.wustl.edu 37 3 186954047 186954047 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 186954047 186954047 G A SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known nonsense c.1612 p.R538* 0.002 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 91 0 0 59 27 31.3953 ATP13A4 0 genome.wustl.edu 37 3 193153486 193153486 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 193153486 193153486 A G SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.2720 p.M907T 1.000 tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 166 0 0 176 10 5.37634 LRRC15 0 genome.wustl.edu 37 3 194080146 194080146 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 194080146 194080146 C T SNP LRRC15 ENST00000439944 human ensembl 74_37 -1 known missense c.1645 p.A549T 0.936 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 110 0 0 89 33 27.0492 ATP13A3 0 genome.wustl.edu 37 3 194147932 194147932 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 194147932 194147932 C T SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known silent c.2997 p.S999 0.790 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 96 0 0 71 22 23.6559 MFI2 0 genome.wustl.edu 37 3 196748318 196748318 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 196748318 196748318 G A SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known silent c.669 p.D223 0.204 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 39 0 0 38 11 22.449 RBMS3 0 genome.wustl.edu 37 3 29910399 29910399 + Nonsense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 29910399 29910399 C T SNP RBMS3 ENST00000383767 human ensembl 74_37 +1 known nonsense c.688 p.R230* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC ENSG00000144642 24 0 0 15 4 21.0526 CNTN4 0 genome.wustl.edu 37 3 3085297 3085297 + Missense_Mutation SNP A A C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 3085297 3085297 A C SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.2720 p.N907T 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 92 0 0 74 11 12.9412 GADL1 0 genome.wustl.edu 37 3 30880509 30880509 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 30880509 30880509 T C SNP GADL1 ENST00000282538 human ensembl 74_37 -1 known missense c.883 p.S295G 0.053 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GADL1 HGNC ENSG00000144644 122 0 0 118 22 15.7143 ZNF860 0 genome.wustl.edu 37 3 32032046 32032046 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 32032046 32032046 G A SNP ZNF860 ENST00000360311 human ensembl 74_37 +1 known missense c.1475 p.R492H 0.032 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 ZNF860 HGNC ENSG00000197385 175 0 0 102 21 17.0732 SLC22A13 0 genome.wustl.edu 37 3 38317132 38317132 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 38317132 38317132 C T SNP SLC22A13 ENST00000311856 human ensembl 74_37 +1 known missense c.991 p.R331W 0.977 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A13 HGNC ENSG00000172940 80 0 0 55 20 26.6667 GORASP1 0 genome.wustl.edu 37 3 39141917 39141917 + Nonsense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 39141917 39141917 C T SNP GORASP1 ENST00000452389 human ensembl 74_37 -1 known nonsense c.603 p.W201* 0.000 NULL pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP1 HGNC ENSG00000114745 74 0 0 51 15 22.7273 VIPR1 0 genome.wustl.edu 37 3 42576492 42576492 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 42576492 42576492 C T SNP VIPR1 ENST00000325123 human ensembl 74_37 +1 known silent c.1036 p.L346 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_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR1 HGNC ENSG00000114812 122 0 0 87 40 31.4961 ZKSCAN7 0 genome.wustl.edu 37 3 44598791 44598791 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 44598791 44598791 G A SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.252 p.M84I 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 78 0 0 73 21 22.3404 LARS2 0 genome.wustl.edu 37 3 45435951 45435951 + Silent SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 45435951 45435951 T G SNP LARS2 ENST00000265537 human ensembl 74_37 +1 known silent c.6 p.A2 0.013 NULL pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC ENSG00000011376 71 0 0 64 6 8.57143 LRRC2 0 genome.wustl.edu 37 3 46571410 46571410 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 46571410 46571410 G A SNP LRRC2 ENST00000296144 human ensembl 74_37 -1 known missense c.758 p.P253L 0.999 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC2 HGNC ENSG00000163827 99 0 0 63 27 30 DHX30 0 genome.wustl.edu 37 3 47891514 47891514 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 47891514 47891514 C T SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known silent c.3489 p.S1163 0.013 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 19 0 0 15 5 25 BSN 0 genome.wustl.edu 37 3 49694830 49694830 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 49694830 49694830 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.7841 p.T2614M 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 29 0 0 31 15 32.6087 RPL29 0 genome.wustl.edu 37 3 52027966 52027966 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 52027966 52027966 G A SNP RPL29 ENST00000294189 human ensembl 74_37 -1 known silent c.279 p.L93 0.182 NULL pfam_Ribosomal_L29e - no_errors RPL29 HGNC ENSG00000162244 128 0 0 89 33 27.0492 SEMA3G 0 genome.wustl.edu 37 3 52475387 52475387 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 52475387 52475387 A G SNP SEMA3G ENST00000231721 human ensembl 74_37 -1 known missense c.706 p.S236P 0.827 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,pfscan_Ig-like_dom - no_errors SEMA3G HGNC ENSG00000010319 84 0 0 51 17 25 STAB1 0 genome.wustl.edu 37 3 52539927 52539927 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 52539927 52539927 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.1724 p.R575Q 0.977 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 52 0 0 40 13 24.5283 PBRM1 0 genome.wustl.edu 37 3 52712570 52712570 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 52712570 52712570 T G SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.182 p.K61T 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 110 0 0 94 44 31.8841 FAM3D 0 genome.wustl.edu 37 3 58629428 58629428 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 58629428 58629428 T C SNP FAM3D ENST00000358781 human ensembl 74_37 -1 known missense c.283 p.N95D 1.000 NULL NULL - no_errors FAM3D HGNC ENSG00000198643 108 0 0 76 26 25.4902 C3orf67 0 genome.wustl.edu 37 3 58817562 58817562 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 58817562 58817562 C A SNP C3orf67 ENST00000482387 human ensembl 74_37 -1 known missense c.1650 p.Q550H 1.000 NULL NULL - no_errors C3orf67 HGNC ENSG00000163689 108 0 0 82 26 24.0741 THOC7 0 genome.wustl.edu 37 3 63825343 63825343 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 63825343 63825343 G A SNP THOC7 ENST00000295899 human ensembl 74_37 -1 known silent c.126 p.S42 0.955 pfam_THOC7/Mft1 pfam_THOC7/Mft1 - no_errors THOC7 HGNC ENSG00000163634 157 0 0 154 10 6.09756 LRIG1 0 genome.wustl.edu 37 3 66434452 66434452 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 66434452 66434452 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known silent c.2034 p.A678 0.022 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,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 LRIG1 HGNC ENSG00000144749 81 0 0 62 34 35.4167 MINA 0 genome.wustl.edu 37 3 97677936 97677936 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 97677936 97677936 C T SNP MINA ENST00000333396 human ensembl 74_37 -1 known missense c.640 p.E214K 0.998 pfam_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors MINA HGNC ENSG00000170854 82 0 0 50 17 25.3731 RNF212 0 genome.wustl.edu 37 4 1066733 1066733 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 1066733 1066733 C T SNP RNF212 ENST00000433731 human ensembl 74_37 -1 known missense c.823 p.D275N 0.000 NULL pfscan_Znf_RING - no_errors RNF212 HGNC ENSG00000178222 70 0 0 53 22 29.3333 CYP2U1 0 genome.wustl.edu 37 4 108871407 108871407 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 108871407 108871407 G A SNP CYP2U1 ENST00000332884 human ensembl 74_37 +1 known missense c.1463 p.R488Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 234 0 0 152 49 24.3781 NDST3 0 genome.wustl.edu 37 4 119163208 119163208 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 119163208 119163208 A G SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.2303 p.D768G 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 239 0 0 125 57 31.3187 SLC25A31 0 genome.wustl.edu 37 4 128651810 128651810 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 128651810 128651810 C T SNP SLC25A31 ENST00000281154 human ensembl 74_37 +1 known missense c.110 p.A37V 0.269 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A31 HGNC ENSG00000151475 40 0 0 23 13 36.1111 HSPA4L 0 genome.wustl.edu 37 4 128751951 128751951 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 128751951 128751951 A G SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known silent c.2418 p.S806 0.782 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 98 0 0 66 19 22.3529 LARP1B 0 genome.wustl.edu 37 4 129121797 129121797 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 129121797 129121797 G T SNP LARP1B ENST00000326639 human ensembl 74_37 +1 known missense c.2286 p.W762C 1.000 smart_DM15 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC ENSG00000138709 105 0 0 63 19 23.1707 SMAD1 0 genome.wustl.edu 37 4 146436032 146436032 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 146436032 146436032 C T SNP SMAD1 ENST00000302085 human ensembl 74_37 +1 known silent c.267 p.C89 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 139 0 0 96 46 32.3944 POU4F2 0 genome.wustl.edu 37 4 147561827 147561827 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 147561827 147561827 T G SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.1097 p.I366S 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 131 0 0 93 32 25.6 FBXW7 0 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 392 0 0 307 96 23.8213 PROM1 0 genome.wustl.edu 37 4 16026930 16026930 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 16026930 16026930 C T SNP PROM1 ENST00000447510 human ensembl 74_37 -1 known missense c.515 p.G172D 0.990 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 183 0 0 124 57 31.4917 FAM53A 0 genome.wustl.edu 37 4 1656776 1656776 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 1656776 1656776 G T SNP FAM53A ENST00000308132 human ensembl 74_37 -1 known silent c.811 p.R271 0.978 NULL NULL - no_errors FAM53A HGNC ENSG00000174137 35 0 0 36 10 21.7391 TLL1 0 genome.wustl.edu 37 4 166795140 166795140 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 166795140 166795140 C T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.84 p.C28 0.995 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 228 0 0 150 68 31.1927 NCAPG 0 genome.wustl.edu 37 4 17838932 17838932 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 17838932 17838932 G A SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.2260 p.V754M 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 175 0 0 129 40 23.6686 KIAA1430 0 genome.wustl.edu 37 4 186112159 186112159 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 186112159 186112159 A G SNP KIAA1430 ENST00000296775 human ensembl 74_37 -1 known silent c.192 p.L64 0.872 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 98 0 0 63 24 27.5862 WHSC1 0 genome.wustl.edu 37 4 1906092 1906092 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 1906092 1906092 T C SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known silent c.747 p.Y249 0.131 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 168 0 0 122 46 27.381 PACRGL 0 genome.wustl.edu 37 4 20715115 20715115 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 20715115 20715115 G A SNP PACRGL ENST00000471979 human ensembl 74_37 +1 known missense c.562 p.V188I 0.011 pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRGL HGNC ENSG00000163138 184 0 0 137 36 20.8092 ZFYVE28 0 genome.wustl.edu 37 4 2306773 2306773 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 2306773 2306773 C T SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known missense c.1294 p.D432N 0.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 59 0 0 49 26 34.6667 ARAP2 0 genome.wustl.edu 37 4 36231038 36231038 + Missense_Mutation SNP A A C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 36231038 36231038 A C SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.71 p.L24R 0.994 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 239 0 0 190 62 24.6032 TLR10 0 genome.wustl.edu 37 4 38775306 38775306 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 38775306 38775306 C T SNP TLR10 ENST00000308973 human ensembl 74_37 -1 known missense c.1906 p.A636T 1.000 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 124 0 0 98 30 23.4375 KLHL5 0 genome.wustl.edu 37 4 39109197 39109197 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 39109197 39109197 G A SNP KLHL5 ENST00000359687 human ensembl 74_37 +1 known missense c.1672 p.V558I 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC ENSG00000109790 156 0 0 166 11 6.21469 KCTD8 0 genome.wustl.edu 37 4 44450036 44450036 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 44450036 44450036 C T SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.505 p.V169I 0.107 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 15 0 0 7 4 36.3636 COMMD8 0 genome.wustl.edu 37 4 47455198 47455198 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 47455198 47455198 G A SNP COMMD8 ENST00000381571 human ensembl 74_37 -1 known nonsense c.409 p.R137* 0.988 pfam_HCaRG pfam_HCaRG - no_errors COMMD8 HGNC ENSG00000169019 142 0 0 95 34 26.3566 CNGA1 0 genome.wustl.edu 37 4 47942795 47942795 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 47942795 47942795 C T SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known missense c.856 p.V286I 1.000 pfam_Ion_trans_dom 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 138 0 0 92 33 26.4 FRYL 0 genome.wustl.edu 37 4 48595988 48595988 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 48595988 48595988 T C SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.1294 p.S432G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 21 0 0 20 6 23.0769 FRYL 0 genome.wustl.edu 37 4 48621329 48621329 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 48621329 48621329 A G SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.373 p.F125L 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 119 0 0 90 21 18.9189 KIT 0 genome.wustl.edu 37 4 55573423 55573423 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 55573423 55573423 A G SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.1085 p.Y362C 0.001 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub 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 90 0 0 40 26 39.3939 CEP135 0 genome.wustl.edu 37 4 56883935 56883935 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 56883935 56883935 C T SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known missense c.2924 p.S975L 0.998 NULL superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 107 0 0 68 20 22.7273 LPHN3 0 genome.wustl.edu 37 4 62862015 62862015 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 62862015 62862015 G A SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known nonsense c.3243 p.W1081* 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like 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 LPHN3 HGNC ENSG00000150471 270 0 0 191 49 20.4167 WFS1 0 genome.wustl.edu 37 4 6302928 6302928 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 6302928 6302928 C T SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.1406 p.S469L 1.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 98 0 0 70 35 33.3333 STAP1 0 genome.wustl.edu 37 4 68442967 68442967 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 68442967 68442967 C T SNP STAP1 ENST00000265404 human ensembl 74_37 +1 known missense c.353 p.T118I 0.996 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors STAP1 HGNC ENSG00000035720 76 0 0 49 14 22.2222 UGT2B7 0 genome.wustl.edu 37 4 69973972 69973972 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 69973972 69973972 A G SNP UGT2B7 ENST00000305231 human ensembl 74_37 +1 known silent c.1242 p.R414 0.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 290 1 0.343643 219 111 33.6364 CCDC96 0 genome.wustl.edu 37 4 7043252 7043252 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 7043252 7043252 C T SNP CCDC96 ENST00000310085 human ensembl 74_37 -1 known missense c.1414 p.A472T 0.968 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 423 0 0 313 132 29.6629 ABLIM2 0 genome.wustl.edu 37 4 8079394 8079394 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 8079394 8079394 A G SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known silent c.636 p.C212 0.853 pfam_Znf_LIM,smart_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 19 0 0 13 4 23.5294 FGF5 0 genome.wustl.edu 37 4 81196160 81196160 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 81196160 81196160 T C SNP FGF5 ENST00000312465 human ensembl 74_37 +1 known silent c.453 p.H151 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF5 HGNC ENSG00000138675 84 0 0 40 16 28.5714 PRKG2 0 genome.wustl.edu 37 4 82090857 82090857 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 82090857 82090857 C A SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.808 p.A270S 1.000 smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 205 0 0 131 44 25.1429 SPARCL1 0 genome.wustl.edu 37 4 88416218 88416218 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 88416218 88416218 T C SNP SPARCL1 ENST00000282470 human ensembl 74_37 -1 known missense c.116 p.N39S 0.001 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pirsf_SPARC-like_p1,pfscan_EF_hand_dom - no_errors SPARCL1 HGNC ENSG00000152583 333 0 0 174 95 35.316 HERC5 0 genome.wustl.edu 37 4 89425506 89425506 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 89425506 89425506 C T SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known silent c.2706 p.P902 0.193 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 155 0 0 113 44 28.0255 TMEM175 0 genome.wustl.edu 37 4 941568 941568 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 941568 941568 C A SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known missense c.41 p.P14Q 0.001 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 47 0 0 27 10 27.027 STPG2 0 genome.wustl.edu 37 4 99064238 99064238 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 99064238 99064238 C A SNP STPG2 ENST00000295268 human ensembl 74_37 -1 known missense c.64 p.G22C 1.000 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 36 0 0 30 5 14.2857 SLC2A9 0 genome.wustl.edu 37 4 9943581 9943581 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 9943581 9943581 C T SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known missense c.770 p.R257H 0.846 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,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 49 0 0 32 21 39.6226 SLCO4C1 0 genome.wustl.edu 37 5 101631731 101631731 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 101631731 101631731 G A SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.236 p.S79L 0.000 NULL 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 127 0 0 84 24 22.2222 FAM173B 0 genome.wustl.edu 37 5 10227606 10227606 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 10227606 10227606 G T SNP FAM173B ENST00000511437 human ensembl 74_37 -1 known missense c.649 p.R217S 0.000 NULL NULL - no_errors FAM173B HGNC ENSG00000150756 126 0 0 88 49 35.7664 APC 0 genome.wustl.edu 37 5 112103087 112103087 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 112103087 112103087 G T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.422 p.R141M 1.000 pfam_APC_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 128 0 0 100 7 6.54206 YTHDC2 0 genome.wustl.edu 37 5 112860771 112860771 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 112860771 112860771 A G SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known silent c.372 p.K124 1.000 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 110 0 0 88 29 24.7863 IL3 0 genome.wustl.edu 37 5 131398085 131398085 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 131398085 131398085 C T SNP IL3 ENST00000296870 human ensembl 74_37 +1 known silent c.285 p.S95 0.000 pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3 pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3 - no_errors IL3 HGNC ENSG00000164399 325 0 0 209 94 31.0231 VDAC1 0 genome.wustl.edu 37 5 133328691 133328691 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 133328691 133328691 G A SNP VDAC1 ENST00000265333 human ensembl 74_37 -1 known missense c.13 p.P5S 1.000 pfam_Porin_Euk/Tom40,prints_Porin_Euk pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC1 HGNC ENSG00000213585 90 0 0 68 31 31.3131 TCF7 0 genome.wustl.edu 37 5 133473836 133473836 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 133473836 133473836 G A SNP TCF7 ENST00000517741 human ensembl 74_37 +1 known missense c.236 p.R79Q 0.762 NULL NULL - no_errors TCF7 HGNC ENSG00000081059 50 0 0 48 16 25 SAR1B 0 genome.wustl.edu 37 5 133948427 133948427 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 133948427 133948427 A G SNP SAR1B ENST00000402673 human ensembl 74_37 -1 known silent c.198 p.I66 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors SAR1B HGNC ENSG00000152700 169 0 0 141 60 29.8507 BRD8 0 genome.wustl.edu 37 5 137501568 137501568 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 137501568 137501568 T G SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.1227 p.E409D 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 109 0 0 104 42 28.7671 CTNNA1 0 genome.wustl.edu 37 5 138268591 138268591 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 138268591 138268591 C T SNP CTNNA1 ENST00000518825 human ensembl 74_37 +1 putative silent c.2448 p.C816 0.000 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 55 0 0 38 18 32.1429 DNAH5 0 genome.wustl.edu 37 5 13913929 13913929 + Missense_Mutation SNP A A C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 13913929 13913929 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.1459 p.F487V 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 135 0 0 118 26 18.0556 PCDHA1 0 genome.wustl.edu 37 5 140168055 140168055 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 140168055 140168055 C A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.2180 p.P727H 0.198 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 45 0 0 50 16 24.2424 PCDHA3 0 genome.wustl.edu 37 5 140180869 140180869 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 140180869 140180869 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.87 p.G29 1.000 pfam_Cadherin_N,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 125 0 0 95 35 26.9231 PCDHA3 0 genome.wustl.edu 37 5 140182434 140182434 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 140182434 140182434 T G SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1652 p.L551R 1.000 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 PCDHA3 HGNC ENSG00000255408 110 0 0 77 34 30.6306 PCDHA7 0 genome.wustl.edu 37 5 140215070 140215070 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 140215070 140215070 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1102 p.V368I 0.025 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 257 0 0 164 83 33.6032 PCDHA12 0 genome.wustl.edu 37 5 140256419 140256419 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 140256419 140256419 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.1362 p.A454 0.000 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 129 0 0 92 52 36.1111 PCDHB6 0 genome.wustl.edu 37 5 140531448 140531448 + Missense_Mutation SNP C C G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 140531448 140531448 C G SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1610 p.P537R 0.974 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 73 0 0 58 21 26.5823 PCDHB16 0 genome.wustl.edu 37 5 140563826 140563826 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 140563826 140563826 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known silent c.1692 p.P564 0.014 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 30 0 0 48 5 9.43396 PCDHGA7 0 genome.wustl.edu 37 5 140762928 140762928 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 140762928 140762928 A G SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known silent c.462 p.L154 0.042 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 76 0 0 55 27 32.9268 PCDHGB6 0 genome.wustl.edu 37 5 140789521 140789521 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 140789521 140789521 C T SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known silent c.1752 p.P584 0.019 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 33 0 0 19 8 29.6296 PCDHGB7 0 genome.wustl.edu 37 5 140798879 140798879 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 140798879 140798879 G A SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.1453 p.G485S 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 95 0 0 76 39 33.913 PCDHGA12 0 genome.wustl.edu 37 5 140811594 140811594 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 140811594 140811594 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1268 p.T423I 0.215 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 74 0 0 54 26 32.5 STK32A 0 genome.wustl.edu 37 5 146619223 146619223 + Missense_Mutation SNP C C G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 146619223 146619223 C G SNP STK32A ENST00000397936 human ensembl 74_37 +1 known missense c.26 p.P9R 0.258 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 STK32A HGNC ENSG00000169302 20 0 0 17 5 22.7273 CD74 0 genome.wustl.edu 37 5 149782828 149782828 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 149782828 149782828 G T SNP CD74 ENST00000009530 human ensembl 74_37 -1 known missense c.673 p.P225T 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1 pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pfam_MHC_II-assoc_invariant_trimer,pfam_Thyroglobulin_1,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1,prints_MHC_II-assoc_invar_chain - no_errors CD74 HGNC ENSG00000019582 209 1 0.47619 193 56 22.49 SYNPO 0 genome.wustl.edu 37 5 150029083 150029083 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 150029083 150029083 G A SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known missense c.1978 p.V660M 0.001 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 17 0 0 17 7 29.1667 SLC36A2 0 genome.wustl.edu 37 5 150723790 150723790 + Missense_Mutation SNP A A C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 150723790 150723790 A C SNP SLC36A2 ENST00000335244 human ensembl 74_37 -1 known missense c.203 p.M68R 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 69 0 0 46 35 43.2099 FGF18 0 genome.wustl.edu 37 5 170863205 170863205 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 170863205 170863205 C T SNP FGF18 ENST00000274625 human ensembl 74_37 +1 known missense c.178 p.R60W 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF18 HGNC ENSG00000156427 33 0 0 29 7 19.4444 CPEB4 0 genome.wustl.edu 37 5 173380104 173380104 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 173380104 173380104 G A SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known silent c.1791 p.A597 0.220 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 370 0 0 206 92 30.8725 MAML1 0 genome.wustl.edu 37 5 179193438 179193438 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 179193438 179193438 G A SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known missense c.1427 p.R476Q 0.988 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 75 0 0 58 25 30.1205 SDHA 0 genome.wustl.edu 37 5 251215 251215 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 251215 251215 C T SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.1660 p.R554W 1.000 pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 127 0 0 94 50 34.7222 CDH9 0 genome.wustl.edu 37 5 26906221 26906221 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 26906221 26906221 C T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.658 p.A220T 1.000 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 CDH9 HGNC ENSG00000113100 226 0 0 140 50 26.3158 PDZD2 0 genome.wustl.edu 37 5 31983467 31983467 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 31983467 31983467 A G SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.683 p.N228S 0.147 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 117 0 0 87 29 25 PDZD2 0 genome.wustl.edu 37 5 31995817 31995817 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 31995817 31995817 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.1114 p.A372T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 32 0 0 25 15 37.5 RXFP3 0 genome.wustl.edu 37 5 33937053 33937053 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 33937053 33937053 G A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.208 p.G70R 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 69 0 0 48 33 40.7407 NIPBL 0 genome.wustl.edu 37 5 37002815 37002815 + Missense_Mutation SNP A A C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 37002815 37002815 A C SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.3716 p.N1239T 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 111 0 0 95 9 8.65385 MROH2B 0 genome.wustl.edu 37 5 41018876 41018876 + Nonsense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 41018876 41018876 G A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known nonsense c.2590 p.R864* 0.994 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 112 0 0 70 52 42.623 PLCXD3 0 genome.wustl.edu 37 5 41382280 41382280 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 41382280 41382280 G A SNP PLCXD3 ENST00000328457 human ensembl 74_37 -1 known missense c.460 p.H154Y 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 349 0 0 294 34 10.3659 ADAMTS16 0 genome.wustl.edu 37 5 5303565 5303565 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 5303565 5303565 G A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2974 p.A992T 0.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,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 ADAMTS16 HGNC ENSG00000145536 21 0 0 14 11 44 HSPB3 0 genome.wustl.edu 37 5 53751959 53751959 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 53751959 53751959 T C SNP HSPB3 ENST00000302005 human ensembl 74_37 +1 known missense c.340 p.F114L 1.000 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB3 HGNC ENSG00000169271 199 0 0 130 59 31.2169 MAP3K1 0 genome.wustl.edu 37 5 56178223 56178223 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 56178223 56178223 A G SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.3196 p.T1066A 0.938 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,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 135 0 0 90 47 34.3066 SRD5A1 0 genome.wustl.edu 37 5 6652020 6652020 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 6652020 6652020 C T SNP SRD5A1 ENST00000274192 human ensembl 74_37 +1 known missense c.359 p.A120V 0.992 pfam_3-oxo-5_a-steroid_4-DH_C,pirsf_3-oxo-5-alpha-steroid_4-DH pfam_3-oxo-5_a-steroid_4-DH_C,pfam_DUF1295,pirsf_3-oxo-5-alpha-steroid_4-DH,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A1 HGNC ENSG00000145545 191 1 0.520833 139 61 30.5 CENPH 0 genome.wustl.edu 37 5 68490522 68490522 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 68490522 68490522 C T SNP CENPH ENST00000283006 human ensembl 74_37 +1 known missense c.239 p.A80V 0.841 NULL pfam_CENP-H - no_errors CENPH HGNC ENSG00000153044 58 0 0 39 12 23.5294 ZNF366 0 genome.wustl.edu 37 5 71757157 71757157 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 71757157 71757157 C T SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.167 p.R56Q 0.981 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 158 0 0 108 53 32.9193 GFM2 0 genome.wustl.edu 37 5 74026203 74026203 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 74026203 74026203 C A SNP GFM2 ENST00000296805 human ensembl 74_37 -1 known silent c.1608 p.G536 1.000 superfamily_EFG_III-V pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_EFG_III-V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors GFM2 HGNC ENSG00000164347 116 0 0 80 28 25.9259 VCAN 0 genome.wustl.edu 37 5 82817797 82817797 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 82817797 82817797 G T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.3672 p.K1224N 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 251 0 0 195 76 28.0443 POPDC3 0 genome.wustl.edu 37 6 105609533 105609533 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 105609533 105609533 C T SNP POPDC3 ENST00000254765 human ensembl 74_37 -1 known silent c.252 p.L84 1.000 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC ENSG00000132429 324 0 0 233 57 19.6552 AIM1 0 genome.wustl.edu 37 6 106967902 106967902 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 106967902 106967902 G A SNP AIM1 ENST00000369066 human ensembl 74_37 +1 known missense c.1595 p.R532H 0.001 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 120 0 0 103 52 33.5484 BEND3 0 genome.wustl.edu 37 6 107390480 107390480 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 107390480 107390480 G A SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known silent c.1915 p.L639 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 58 0 0 45 19 29.6875 BEND3 0 genome.wustl.edu 37 6 107390687 107390687 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 107390687 107390687 T C SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known missense c.1708 p.I570V 1.000 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 103 0 0 92 31 25.2033 SLC16A10 0 genome.wustl.edu 37 6 111527861 111527861 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 111527861 111527861 G A SNP SLC16A10 ENST00000368851 human ensembl 74_37 +1 known missense c.1009 p.V337I 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 238 0 0 180 80 30.7692 REV3L 0 genome.wustl.edu 37 6 111695520 111695520 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 111695520 111695520 A G SNP REV3L ENST00000358835 human ensembl 74_37 -1 known silent c.4038 p.F1346 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 286 0 0 236 21 8.17121 DSE 0 genome.wustl.edu 37 6 116758028 116758028 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 116758028 116758028 A G SNP DSE ENST00000537543 human ensembl 74_37 +1 known silent c.2454 p.Q818 0.988 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 140 0 0 104 31 22.963 RFX6 0 genome.wustl.edu 37 6 117198978 117198978 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 117198978 117198978 T C SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known silent c.243 p.G81 0.001 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 73 0 0 53 3 5.35714 TRDN 0 genome.wustl.edu 37 6 123673709 123673709 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 123673709 123673709 C A SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.1344 p.E448D 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 73 0 0 71 19 21.1111 HEY2 0 genome.wustl.edu 37 6 126080753 126080753 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 126080753 126080753 G A SNP HEY2 ENST00000368364 human ensembl 74_37 +1 known silent c.819 p.A273 0.038 prints_Antifreeze_1 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 348 0 0 302 105 25.7985 SOGA3 0 genome.wustl.edu 37 6 127796641 127796641 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 127796641 127796641 G A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.2530 p.R844C 0.986 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 161 1 0.617284 112 52 31.7073 TAAR6 0 genome.wustl.edu 37 6 132891923 132891923 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 132891923 132891923 G A SNP TAAR6 ENST00000275198 human ensembl 74_37 +1 known missense c.463 p.V155M 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR6 HGNC ENSG00000146383 471 0 0 379 170 30.9654 AHI1 0 genome.wustl.edu 37 6 135787084 135787084 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 135787084 135787084 C A SNP AHI1 ENST00000265602 human ensembl 74_37 -1 known missense c.617 p.R206M 1.000 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 163 0 0 140 14 9.09091 BCLAF1 0 genome.wustl.edu 37 6 136600998 136600998 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 136600998 136600998 G A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.7 p.R3C 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 80 0 0 91 12 11.6505 GPR126 0 genome.wustl.edu 37 6 142691311 142691311 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 142691311 142691311 C T SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known silent c.450 p.A150 0.574 superfamily_CUB_dom,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 82 0 0 56 18 24.3243 PHACTR2 0 genome.wustl.edu 37 6 144093509 144093509 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 144093509 144093509 C T SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known silent c.1347 p.Y449 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 61 0 0 47 21 30.8824 LTV1 0 genome.wustl.edu 37 6 144183260 144183260 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 144183260 144183260 C A SNP LTV1 ENST00000367576 human ensembl 74_37 +1 known missense c.943 p.L315I 1.000 pfam_LTV pfam_LTV - no_errors LTV1 HGNC ENSG00000135521 135 1 0.735294 100 26 20.6349 LATS1 0 genome.wustl.edu 37 6 150004580 150004580 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 150004580 150004580 C A SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.1645 p.A549S 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 241 0 0 184 71 27.8431 PLEKHG1 0 genome.wustl.edu 37 6 151151939 151151939 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 151151939 151151939 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known silent c.1692 p.P564 0.048 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 201 0 0 154 70 31.25 ZBTB2 0 genome.wustl.edu 37 6 151687420 151687420 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 151687420 151687420 G A SNP ZBTB2 ENST00000325144 human ensembl 74_37 -1 known missense c.781 p.R261W 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ENSG00000181472 203 0 0 154 58 27.3585 SYNE1 0 genome.wustl.edu 37 6 152737700 152737700 + Nonsense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 152737700 152737700 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known nonsense c.5872 p.E1958* 0.997 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 411 0 0 277 110 28.4238 SYNE1 0 genome.wustl.edu 37 6 152783944 152783944 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 152783944 152783944 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.2179 p.A727T 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 181 0 0 108 48 30.7692 TIAM2 0 genome.wustl.edu 37 6 155574159 155574159 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 155574159 155574159 G A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known silent c.4284 p.A1428 0.010 smart_Pleckstrin_homology 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 60 0 0 42 16 27.5862 SYNJ2 0 genome.wustl.edu 37 6 158487683 158487683 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 158487683 158487683 T C SNP SYNJ2 ENST00000449859 human ensembl 74_37 +1 known missense c.1517 p.F506S 0.000 NULL pfam_Syja_N,superfamily_Endo/exonuclease/phosphatase,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 63 0 0 45 14 23.7288 SYNJ2 0 genome.wustl.edu 37 6 158492692 158492692 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 158492692 158492692 G A SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.1999 p.A667T 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 73 0 0 46 21 31.3433 C6orf118 0 genome.wustl.edu 37 6 165693544 165693544 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 165693544 165693544 C T SNP C6orf118 ENST00000491176 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors C6orf118 HGNC ENSG00000112539 105 0 0 77 10 11.4943 DLL1 0 genome.wustl.edu 37 6 170592537 170592537 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 170592537 170592537 C T SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known silent c.1830 p.T610 0.864 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 194 1 0.512821 148 75 33.6323 TBP 0 genome.wustl.edu 37 6 170871016 170871016 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 170871016 170871016 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.192 p.Q64 1.000 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 43 0 0 42 9 17.6471 DCDC2 0 genome.wustl.edu 37 6 24357791 24357791 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 24357791 24357791 C T SNP DCDC2 ENST00000378454 human ensembl 74_37 -1 known missense c.188 p.R63K 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2 HGNC ENSG00000146038 67 0 0 38 19 33.3333 BTN1A1 0 genome.wustl.edu 37 6 26502055 26502055 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 26502055 26502055 G A SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known missense c.317 p.R106H 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 54 0 0 32 4 11.1111 HIST1H2BN 0 genome.wustl.edu 37 6 27806590 27806590 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 27806590 27806590 C T SNP HIST1H2BN ENST00000396980 human ensembl 74_37 +1 known missense c.151 p.P51S 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 HIST1H2BN HGNC ENSG00000233822 367 0 0 252 108 30 HIST1H2BO 0 genome.wustl.edu 37 6 27861580 27861580 + Nonsense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 27861580 27861580 G T SNP HIST1H2BO ENST00000303806 human ensembl 74_37 +1 known nonsense c.340 p.E114* 1.000 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 85 0 0 67 4 5.6338 ZSCAN16 0 genome.wustl.edu 37 6 28094637 28094637 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 28094637 28094637 C T SNP ZSCAN16 ENST00000340487 human ensembl 74_37 +1 known missense c.464 p.T155I 0.051 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN16 HGNC ENSG00000196812 49 0 0 40 13 24.5283 ZNF192P1 0 genome.wustl.edu 37 6 28134627 28134627 + RNA SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 28134627 28134627 G T SNP ZNF192P1 ENST00000440790 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF192P1 HGNC ENSG00000226314 11 0 0 12 5 29.4118 ZKSCAN4 0 genome.wustl.edu 37 6 28213420 28213420 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 28213420 28213420 G A SNP ZKSCAN4 ENST00000377294 human ensembl 74_37 -1 known missense c.1112 p.T371I 0.998 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN4 HGNC ENSG00000187626 130 1 0.763359 101 37 26.8116 SCAND3 0 genome.wustl.edu 37 6 28554244 28554244 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 28554244 28554244 T C SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.251 p.E84G 0.478 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 139 0 0 103 41 28.4722 GABBR1 0 genome.wustl.edu 37 6 29599375 29599375 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 29599375 29599375 A G SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known silent c.87 p.G29 1.000 superfamily_Sushi_SCR_CCP 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 114 0 0 106 10 8.62069 VARS2 0 genome.wustl.edu 37 6 30889738 30889738 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 30889738 30889738 T C SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.1862 p.L621P 1.000 pfam_aa-tRNA-synth_Ia,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 200 0 0 174 45 20.5479 VARS2 0 genome.wustl.edu 37 6 30890692 30890692 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 30890692 30890692 C T SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known silent c.2214 p.H738 0.840 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 144 0 0 124 31 20 VARS 0 genome.wustl.edu 37 6 31750063 31750063 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 31750063 31750063 G A SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.2149 p.R717W 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 36 0 0 29 12 29.2683 RNF5 0 genome.wustl.edu 37 6 32147867 32147867 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 32147867 32147867 G A SNP RNF5 ENST00000427134 human ensembl 74_37 +1 known missense c.409 p.V137I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF5 HGNC ENSG00000204308 295 0 0 203 94 31.6498 ITPR3 0 genome.wustl.edu 37 6 33652652 33652652 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 33652652 33652652 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.5239 p.E1747K 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 87 0 0 78 33 29.7297 UHRF1BP1 0 genome.wustl.edu 37 6 34825148 34825148 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 34825148 34825148 C T SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.1474 p.L492F 0.997 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 167 0 0 127 42 24.8521 MAPK13 0 genome.wustl.edu 37 6 36106213 36106213 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 36106213 36106213 G A SNP MAPK13 ENST00000211287 human ensembl 74_37 +1 known missense c.754 p.D252N 0.992 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_p38,prints_MAPK_JNK - no_errors MAPK13 HGNC ENSG00000156711 29 0 0 16 17 51.5152 C6orf222 0 genome.wustl.edu 37 6 36298038 36298038 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 36298038 36298038 G T SNP C6orf222 ENST00000437635 human ensembl 74_37 -1 known missense c.430 p.L144I 0.001 NULL NULL - no_errors C6orf222 HGNC ENSG00000189325 69 0 0 51 28 35.443 DNAH8 0 genome.wustl.edu 37 6 38903419 38903419 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 38903419 38903419 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.10858 p.R3620W 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 349 0 0 251 86 25.5193 TFEB 0 genome.wustl.edu 37 6 41657475 41657475 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 41657475 41657475 G T SNP TFEB ENST00000230323 human ensembl 74_37 -1 known silent c.543 p.P181 1.000 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEB HGNC ENSG00000112561 62 0 0 73 5 6.41026 TRERF1 0 genome.wustl.edu 37 6 42231171 42231171 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 42231171 42231171 T C SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.1771 p.K591E 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 94 0 0 75 27 26.4706 CUL9 0 genome.wustl.edu 37 6 43155673 43155673 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 43155673 43155673 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.1804 p.A602T 0.748 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 87 0 0 65 23 26.1364 CUL9 0 genome.wustl.edu 37 6 43181594 43181594 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 43181594 43181594 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.5632 p.R1878C 1.000 smart_Cullin_neddylation_domain pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 117 0 0 83 42 33.6 ABCC10 0 genome.wustl.edu 37 6 43415559 43415559 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 43415559 43415559 C T SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known silent c.3843 p.R1281 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 ABCC10 HGNC ENSG00000124574 168 0 0 154 82 34.7458 GPR111 0 genome.wustl.edu 37 6 47650252 47650252 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 47650252 47650252 G A SNP GPR111 ENST00000296862 human ensembl 74_37 +1 known missense c.1957 p.A653T 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 79 0 0 63 30 32.2581 PKHD1 0 genome.wustl.edu 37 6 51897950 51897950 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 51897950 51897950 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.3242 p.R1081H 0.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT,smart_PbH1 pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 153 0 0 94 36 27.6923 PKHD1 0 genome.wustl.edu 37 6 51913367 51913367 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 51913367 51913367 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.2330 p.T777M 0.011 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 136 0 0 106 38 26.3889 GCM1 0 genome.wustl.edu 37 6 52999038 52999038 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 52999038 52999038 G A SNP GCM1 ENST00000259803 human ensembl 74_37 -1 known missense c.160 p.R54W 1.000 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM1 HGNC ENSG00000137270 153 0 0 117 52 30.7692 FARS2 0 genome.wustl.edu 37 6 5404836 5404836 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 5404836 5404836 C T SNP FARS2 ENST00000274680 human ensembl 74_37 +1 known missense c.674 p.A225V 0.970 pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 129 0 0 130 10 7.14286 PHF3 0 genome.wustl.edu 37 6 64423103 64423103 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 64423103 64423103 A G SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known silent c.5619 p.S1873 1.000 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 PHF3 HGNC ENSG00000118482 245 1 0.406504 238 23 8.81226 COL9A1 0 genome.wustl.edu 37 6 70942332 70942332 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 70942332 70942332 C T SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known silent c.2457 p.P819 0.391 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 231 0 0 78 70 47.2973 PHIP 0 genome.wustl.edu 37 6 79770253 79770253 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 79770253 79770253 C T SNP PHIP ENST00000275034 human ensembl 74_37 -1 known silent c.381 p.A127 0.191 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 121 0 0 103 27 20.7692 IBTK 0 genome.wustl.edu 37 6 82950191 82950191 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 82950191 82950191 T C SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.13 p.M5V 0.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 212 0 0 144 62 30.0971 PGM3 0 genome.wustl.edu 37 6 83884156 83884156 + Missense_Mutation SNP T T A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 83884156 83884156 T A SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known missense c.1179 p.Q393H 0.010 pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 112 0 0 79 37 31.8966 TBX18 0 genome.wustl.edu 37 6 85472393 85472393 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 85472393 85472393 C T SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known silent c.366 p.P122 0.007 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 42 0 0 39 15 27.7778 RARS2 0 genome.wustl.edu 37 6 88239291 88239291 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 88239291 88239291 G A SNP RARS2 ENST00000369536 human ensembl 74_37 -1 known silent c.847 p.L283 1.000 pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 181 1 0.549451 110 32 22.5352 GABRR1 0 genome.wustl.edu 37 6 89890064 89890064 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 89890064 89890064 C T SNP GABRR1 ENST00000454853 human ensembl 74_37 -1 known missense c.1093 p.V365I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 78 0 0 52 4 7.14286 EPHA7 0 genome.wustl.edu 37 6 94068094 94068094 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 94068094 94068094 C A SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.868 p.D290Y 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 64 0 0 54 18 25 MANEA 0 genome.wustl.edu 37 6 96034881 96034881 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 96034881 96034881 A G SNP MANEA ENST00000369293 human ensembl 74_37 +1 known missense c.566 p.Y189C 0.000 NULL NULL - no_errors MANEA HGNC ENSG00000172469 106 0 0 75 46 38.0165 FBXO24 0 genome.wustl.edu 37 7 100192820 100192820 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 100192820 100192820 C T SNP FBXO24 ENST00000427939 human ensembl 74_37 +1 known missense c.1162 p.P388S 1.000 superfamily_RCC1/BLIP-II pfam_F-box_dom,pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 97 0 0 77 57 42.5373 MUC17 0 genome.wustl.edu 37 7 100680596 100680596 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 100680596 100680596 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.5899 p.P1967S 0.157 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 522 0 0 378 280 42.5532 ALKBH4 0 genome.wustl.edu 37 7 102098296 102098296 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 102098296 102098296 C T SNP ALKBH4 ENST00000292566 human ensembl 74_37 -1 known missense c.454 p.E152K 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH4 HGNC ENSG00000160993 32 0 0 41 10 19.6078 LRRC17 0 genome.wustl.edu 37 7 102584826 102584826 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 102584826 102584826 G A SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known silent c.1098 p.K366 0.990 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 299 0 0 272 84 23.5955 SRPK2 0 genome.wustl.edu 37 7 104787044 104787044 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 104787044 104787044 G A SNP SRPK2 ENST00000393651 human ensembl 74_37 -1 known missense c.683 p.P228L 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 SRPK2 HGNC ENSG00000135250 130 0 0 70 40 36.3636 PRKAR2B 0 genome.wustl.edu 37 7 106797745 106797745 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 106797745 106797745 G A SNP PRKAR2B ENST00000265717 human ensembl 74_37 +1 known missense c.1099 p.A367T 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2B HGNC ENSG00000005249 56 0 0 40 31 43.662 DLD 0 genome.wustl.edu 37 7 107542201 107542201 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 107542201 107542201 T G SNP DLD ENST00000205402 human ensembl 74_37 +1 known missense c.137 p.V46G 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,pfam_GIDA-rel,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH - no_errors DLD HGNC ENSG00000091140 186 1 0.534759 203 11 5.14019 LAMB1 0 genome.wustl.edu 37 7 107599833 107599833 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 107599833 107599833 A G SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.2551 p.C851R 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,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 97 0 0 120 8 6.25 DOCK4 0 genome.wustl.edu 37 7 111409728 111409728 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 111409728 111409728 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.3685 p.A1229T 0.998 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 30 0 0 23 13 36.1111 WNT2 0 genome.wustl.edu 37 7 116955140 116955140 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 116955140 116955140 G T SNP WNT2 ENST00000265441 human ensembl 74_37 -1 known missense c.573 p.N191K 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 226 0 0 199 56 21.9608 HYAL4 0 genome.wustl.edu 37 7 123508376 123508376 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 123508376 123508376 G A SNP HYAL4 ENST00000223026 human ensembl 74_37 +1 known missense c.49 p.V17I 0.000 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL4 HGNC ENSG00000106302 297 0 0 296 53 15.1862 SND1 0 genome.wustl.edu 37 7 127637804 127637804 + RNA SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 127637804 127637804 T C SNP SND1 ENST00000467238 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SND1 HGNC ENSG00000197157 457 0 0 276 225 44.9102 PLXNA4 0 genome.wustl.edu 37 7 131825463 131825463 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 131825463 131825463 A G SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.5333 p.F1778S 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot 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 PLXNA4 HGNC ENSG00000221866 130 0 0 126 26 17.1053 CNOT4 0 genome.wustl.edu 37 7 135047689 135047689 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 135047689 135047689 G T SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known missense c.2090 p.P697H 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 390 0 0 251 231 47.9253 KIAA1549 0 genome.wustl.edu 37 7 138603298 138603298 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 138603298 138603298 A G SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.1074 p.H358 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 215 0 0 165 136 45.1827 CUL1 0 genome.wustl.edu 37 7 148484193 148484193 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 148484193 148484193 G A SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.1460 p.S487N 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 128 0 0 136 33 19.5266 ZNF786 0 genome.wustl.edu 37 7 148767724 148767724 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 148767724 148767724 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.2140 p.R714W 0.997 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 ZNF786 HGNC ENSG00000197362 258 0 0 269 79 22.7011 ZNF746 0 genome.wustl.edu 37 7 149171807 149171807 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 149171807 149171807 C T SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known missense c.1606 p.E536K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 25 0 0 20 7 25.9259 GIMAP8 0 genome.wustl.edu 37 7 150174379 150174379 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 150174379 150174379 C T SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known silent c.1509 p.V503 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 92 0 0 90 33 26.8293 ABCF2 0 genome.wustl.edu 37 7 150915664 150915664 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 150915664 150915664 T C SNP ABCF2 ENST00000222388 human ensembl 74_37 -1 known missense c.1210 p.K404E 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 83 0 0 77 15 16.3043 INTS1 0 genome.wustl.edu 37 7 1539187 1539187 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 1539187 1539187 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.1150 p.A384T 0.998 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 26 0 0 20 17 45.9459 GPNMB 0 genome.wustl.edu 37 7 23286460 23286460 + RNA SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 23286460 23286460 G A SNP GPNMB ENST00000459927 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPNMB HGNC ENSG00000136235 112 0 0 73 55 42.9688 HOXA6 0 genome.wustl.edu 37 7 27185513 27185513 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 27185513 27185513 G A SNP HOXA6 ENST00000222728 human ensembl 74_37 -1 known missense c.466 p.R156C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_antennapedia pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA6 HGNC ENSG00000106006 90 0 0 58 44 43.1373 DPY19L2P3 0 genome.wustl.edu 37 7 29726917 29726917 + RNA SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 29726917 29726917 G A SNP DPY19L2P3 ENST00000602965 human ensembl 74_37 +1 known rna NULL NULL 0.917 - - - no_errors AC007276.5 Clone_based_vega_gene ENSG00000227855 167 0 0 98 58 37.1795 ZNRF2 0 genome.wustl.edu 37 7 30363339 30363339 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 30363339 30363339 G A SNP ZNRF2 ENST00000323037 human ensembl 74_37 +1 known missense c.551 p.R184Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF2 HGNC ENSG00000180233 228 0 0 243 78 24.2991 AOAH 0 genome.wustl.edu 37 7 36763673 36763673 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 36763673 36763673 G A SNP AOAH ENST00000258749 human ensembl 74_37 -1 known silent c.81 p.N27 0.000 NULL pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 53 0 0 48 22 31.4286 NME8 0 genome.wustl.edu 37 7 37896881 37896881 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 37896881 37896881 A G SNP NME8 ENST00000199447 human ensembl 74_37 +1 known silent c.204 p.E68 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 109 0 0 64 31 32.6316 HECW1 0 genome.wustl.edu 37 7 43484813 43484813 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 43484813 43484813 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.2042 p.S681L 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 47 0 0 38 28 42.4242 TNS3 0 genome.wustl.edu 37 7 47408471 47408471 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 47408471 47408471 C A SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.1772 p.R591L 0.999 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 111 0 0 89 23 20.5357 VWC2 0 genome.wustl.edu 37 7 49842417 49842417 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 49842417 49842417 C T SNP VWC2 ENST00000340652 human ensembl 74_37 +1 known silent c.807 p.C269 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors VWC2 HGNC ENSG00000188730 66 0 0 46 41 47.1264 FBXL18 0 genome.wustl.edu 37 7 5545127 5545127 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 5545127 5545127 G A SNP FBXL18 ENST00000453700 human ensembl 74_37 -1 known silent c.153 p.N51 0.542 pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXL18 HGNC ENSG00000155034 88 0 0 117 9 7.14286 FKBP9L 0 genome.wustl.edu 37 7 55755475 55755475 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 55755475 55755475 C T SNP FKBP9L ENST00000455909 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FKBP9L HGNC ENSG00000176826 58 0 0 42 49 53.8462 RAC1 0 genome.wustl.edu 37 7 6442041 6442041 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 6442041 6442041 C T SNP RAC1 ENST00000356142 human ensembl 74_37 +1 known silent c.600 p.P200 0.086 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC1 HGNC ENSG00000136238 33 0 0 36 6 14.2857 AUTS2 0 genome.wustl.edu 37 7 70254989 70254989 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 70254989 70254989 G A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known silent c.2787 p.A929 0.028 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 15 0 0 2 4 66.6667 WBSCR17 0 genome.wustl.edu 37 7 70597984 70597984 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 70597984 70597984 C T SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.196 p.R66C 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 19 0 0 18 7 28 POM121 0 genome.wustl.edu 37 7 72412620 72412620 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 72412620 72412620 G A SNP POM121 ENST00000434423 human ensembl 74_37 +1 known silent c.2088 p.P696 0.034 NULL NULL - no_errors POM121 HGNC ENSG00000196313 50 0 0 48 10 17.2414 FKBP6 0 genome.wustl.edu 37 7 72756821 72756821 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 72756821 72756821 A G SNP FKBP6 ENST00000252037 human ensembl 74_37 +1 known missense c.908 p.Y303C 0.995 NULL pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP6 HGNC ENSG00000077800 204 0 0 141 101 41.7355 WBSCR27 0 genome.wustl.edu 37 7 73254783 73254783 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 73254783 73254783 G T SNP WBSCR27 ENST00000297873 human ensembl 74_37 -1 known missense c.349 p.L117I 1.000 pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase - no_errors WBSCR27 HGNC ENSG00000165171 12 0 0 7 5 41.6667 CLIP2 0 genome.wustl.edu 37 7 73770775 73770775 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 73770775 73770775 C T SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.839 p.A280V 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 107 0 0 136 25 15.528 ABCB1 0 genome.wustl.edu 37 7 87183124 87183124 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 87183124 87183124 T C SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.952 p.T318A 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 ABCB1 HGNC ENSG00000085563 201 0 0 220 55 20 ADAM22 0 genome.wustl.edu 37 7 87737537 87737537 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 87737537 87737537 A G SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.437 p.D146G 0.089 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 112 1 0.884956 99 25 20.1613 COL1A2 0 genome.wustl.edu 37 7 94055071 94055071 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 94055071 94055071 G A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.2845 p.G949S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 38 0 0 45 17 27.4194 PEG10 0 genome.wustl.edu 37 7 94293701 94293701 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 94293701 94293701 G A SNP PEG10 ENST00000482108 human ensembl 74_37 +1 known missense c.833 p.R278H 1.000 superfamily_Znf_CCHC pfam_Retrotrans_gag_dom,superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PEG10 HGNC ENSG00000242265 13 0 0 12 9 42.8571 MCM7 0 genome.wustl.edu 37 7 99695360 99695360 + Missense_Mutation SNP A A C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 99695360 99695360 A C SNP MCM7 ENST00000303887 human ensembl 74_37 -1 known missense c.994 p.F332V 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 381 1 0.26178 427 104 19.5857 RGS22 0 genome.wustl.edu 37 8 101054050 101054050 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 101054050 101054050 C T SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.1918 p.A640T 0.214 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 107 0 0 120 28 18.9189 SPAG1 0 genome.wustl.edu 37 8 101206483 101206483 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 101206483 101206483 C A SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known silent c.1083 p.G361 0.998 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 38 0 0 52 20 27.7778 YWHAZ 0 genome.wustl.edu 37 8 101961019 101961019 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 101961019 101961019 T C SNP YWHAZ ENST00000353245 human ensembl 74_37 -1 known silent c.99 p.G33 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_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 192 1 0.518135 175 59 25.2137 UBR5 0 genome.wustl.edu 37 8 103297902 103297902 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 103297902 103297902 T G SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.5323 p.S1775R 1.000 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 116 0 0 107 34 24.1135 RP1L1 0 genome.wustl.edu 37 8 10464633 10464633 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 10464633 10464633 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.6975 p.S2325 0.146 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 461 0 0 413 116 21.9282 RIMS2 0 genome.wustl.edu 37 8 105263283 105263283 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 105263283 105263283 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.3723 p.N1241 0.996 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 110 0 0 115 24 17.2662 SYBU 0 genome.wustl.edu 37 8 110587156 110587156 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 110587156 110587156 G A SNP SYBU ENST00000276646 human ensembl 74_37 -1 known silent c.1971 p.T657 0.971 NULL NULL - no_errors SYBU HGNC ENSG00000147642 151 0 0 153 47 23.5 MED30 0 genome.wustl.edu 37 8 118543004 118543004 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 118543004 118543004 G A SNP MED30 ENST00000297347 human ensembl 74_37 +1 known missense c.379 p.D127N 0.954 pfam_Mediator_Med30_met pfam_Mediator_Med30_met - no_errors MED30 HGNC ENSG00000164758 62 0 0 73 4 5.19481 EXT1 0 genome.wustl.edu 37 8 119122904 119122904 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 119122904 119122904 C T SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.382 p.A128T 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 157 0 0 180 42 18.9189 ENPP2 0 genome.wustl.edu 37 8 120581581 120581581 + Silent SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 120581581 120581581 C A SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known silent c.2103 p.L701 1.000 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A 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 ENPP2 HGNC ENSG00000136960 130 0 0 114 30 20.8333 FAM91A1 0 genome.wustl.edu 37 8 124798813 124798813 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 124798813 124798813 G A SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known silent c.1041 p.S347 0.135 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 103 0 0 124 38 23.4568 TG 0 genome.wustl.edu 37 8 134125772 134125772 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 134125772 134125772 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.7679 p.A2560V 0.713 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 95 0 0 62 23 27.0588 NDRG1 0 genome.wustl.edu 37 8 134292508 134292508 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 134292508 134292508 G T SNP NDRG1 ENST00000323851 human ensembl 74_37 -1 known silent c.66 p.T22 1.000 NULL pfam_Ndr - no_errors NDRG1 HGNC ENSG00000104419 79 0 0 69 19 21.5909 SLC45A4 0 genome.wustl.edu 37 8 142228524 142228524 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 142228524 142228524 G T SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known silent c.1215 p.P405 0.003 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 48 0 0 48 6 11.1111 FAM83H 0 genome.wustl.edu 37 8 144810216 144810216 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 144810216 144810216 A G SNP FAM83H ENST00000388913 human ensembl 74_37 -1 known missense c.1415 p.L472P 0.999 NULL pfam_DUF1669 - no_errors FAM83H HGNC ENSG00000180921 13 0 0 11 10 47.619 EPPK1 0 genome.wustl.edu 37 8 144944068 144944068 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 144944068 144944068 A G SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.3354 p.S1118 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 14 0 0 17 5 22.7273 PARP10 0 genome.wustl.edu 37 8 145059498 145059498 + Splice_Site SNP T T A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 145059498 145059498 T A SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known splice_site c.674-2 e5-2 0.766 - - - no_errors PARP10 HGNC ENSG00000178685 20 0 0 25 7 21.875 PARP10 0 genome.wustl.edu 37 8 145060298 145060298 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 145060298 145060298 G A SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.106 p.R36C 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 118 1 0.840336 112 43 27.7419 ADCK5 0 genome.wustl.edu 37 8 145617902 145617902 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 145617902 145617902 A G SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known missense c.1510 p.M504V 1.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 13 0 0 14 3 17.6471 CPSF1 0 genome.wustl.edu 37 8 145619218 145619218 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 145619218 145619218 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.3895 p.R1299W 0.819 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 57 0 0 54 17 23.9437 ASAH1 0 genome.wustl.edu 37 8 17927303 17927303 + Missense_Mutation SNP A A T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 17927303 17927303 A T SNP ASAH1 ENST00000381733 human ensembl 74_37 -1 known missense c.349 p.L117M 0.943 pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors ASAH1 HGNC ENSG00000104763 139 0 0 147 34 18.7845 LZTS1 0 genome.wustl.edu 37 8 20112440 20112440 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 20112440 20112440 G A SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known silent c.253 p.L85 0.153 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 91 0 0 86 25 22.5225 FAM160B2 0 genome.wustl.edu 37 8 21956068 21956068 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 21956068 21956068 C T SNP FAM160B2 ENST00000289921 human ensembl 74_37 +1 known silent c.903 p.Y301 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 24 0 0 30 3 9.09091 EGR3 0 genome.wustl.edu 37 8 22548028 22548028 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 22548028 22548028 C T SNP EGR3 ENST00000317216 human ensembl 74_37 -1 known silent c.1122 p.A374 1.000 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 43 0 0 57 10 14.9254 RHOBTB2 0 genome.wustl.edu 37 8 22862901 22862901 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 22862901 22862901 G A SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.209 p.R70Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 79 0 0 96 26 21.3115 STC1 0 genome.wustl.edu 37 8 23709800 23709800 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 23709800 23709800 G A SNP STC1 ENST00000290271 human ensembl 74_37 -1 known silent c.216 p.D72 1.000 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC1 HGNC ENSG00000159167 99 0 0 132 26 16.4557 TRIM35 0 genome.wustl.edu 37 8 27145136 27145136 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 27145136 27145136 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known silent c.1413 p.G471 0.000 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 15 0 0 17 7 29.1667 FZD3 0 genome.wustl.edu 37 8 28420583 28420583 + RNA SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 28420583 28420583 T G SNP FZD3 ENST00000517911 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors FZD3 HGNC ENSG00000104290 75 0 0 73 25 25.5102 WRN 0 genome.wustl.edu 37 8 30982073 30982073 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 30982073 30982073 G A SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.2666 p.R889Q 1.000 pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 116 0 0 117 36 23.5294 ERLIN2 0 genome.wustl.edu 37 8 37611432 37611432 + Splice_Site SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 37611432 37611432 G A SNP ERLIN2 ENST00000276461 human ensembl 74_37 +1 known splice_site c.820-1 e11-1 1.000 - - - no_errors ERLIN2 HGNC ENSG00000147475 101 0 0 129 44 25.4335 SFRP1 0 genome.wustl.edu 37 8 41166254 41166254 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 41166254 41166254 G T SNP SFRP1 ENST00000220772 human ensembl 74_37 -1 known missense c.425 p.P142Q 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 8 0 0 15 5 25 AGPAT6 0 genome.wustl.edu 37 8 41467268 41467268 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 41467268 41467268 C T SNP AGPAT6 ENST00000396987 human ensembl 74_37 +1 known silent c.330 p.F110 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT6 HGNC ENSG00000158669 223 0 0 237 71 23.0519 KAT6A 0 genome.wustl.edu 37 8 41798418 41798418 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 41798418 41798418 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.2981 p.P994L 0.991 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 232 0 0 260 86 24.8555 PXDNL 0 genome.wustl.edu 37 8 52322009 52322009 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 52322009 52322009 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known silent c.2175 p.A725 0.774 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 21 0 0 31 14 31.1111 ST18 0 genome.wustl.edu 37 8 53038681 53038681 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 53038681 53038681 T C SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.2686 p.N896D 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 205 0 0 164 59 26.4574 TCEA1 0 genome.wustl.edu 37 8 54882849 54882849 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 54882849 54882849 C T SNP TCEA1 ENST00000522397 human ensembl 74_37 -1 known rna NULL NULL 0.046 - - - no_errors TCEA1 HGNC ENSG00000187735 20 0 0 35 8 18.6047 RP1 0 genome.wustl.edu 37 8 55534132 55534132 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 55534132 55534132 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.606 p.D202 0.129 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 183 0 0 190 39 17.0306 RP1 0 genome.wustl.edu 37 8 55538400 55538400 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 55538400 55538400 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.1958 p.G653D 0.996 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 107 0 0 117 34 22.5166 NSMAF 0 genome.wustl.edu 37 8 59498296 59498296 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 59498296 59498296 G A SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known silent c.2667 p.S889 0.047 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_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 272 0 0 261 60 18.6916 ERICH1 0 genome.wustl.edu 37 8 623803 623803 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 623803 623803 A G SNP ERICH1 ENST00000262109 human ensembl 74_37 -1 known silent c.549 p.A183 0.002 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 127 0 0 128 32 20 MCPH1 0 genome.wustl.edu 37 8 6338339 6338339 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 6338339 6338339 G A SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known missense c.2078 p.R693H 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 156 0 0 154 58 27.3585 C8orf34 0 genome.wustl.edu 37 8 69380980 69380980 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 69380980 69380980 C T SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.661 p.R221C 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 128 0 0 125 29 18.8312 LOC100132891 0 genome.wustl.edu 37 8 72756519 72756519 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 72756519 72756519 A G SNP LOC100132891 ENST00000537896 human ensembl 74_37 +1 known missense c.359 p.Q120R 0.000 NULL NULL - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 13 0 0 8 4 33.3333 ZFHX4 0 genome.wustl.edu 37 8 77765696 77765696 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 77765696 77765696 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.6539 p.T2180M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 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 208 0 0 193 52 21.2245 WWP1 0 genome.wustl.edu 37 8 87424099 87424099 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 87424099 87424099 T G SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known missense c.1057 p.S353A 0.990 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors WWP1 HGNC ENSG00000123124 70 0 0 61 19 23.75 OSGIN2 0 genome.wustl.edu 37 8 90937134 90937134 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 90937134 90937134 C T SNP OSGIN2 ENST00000451899 human ensembl 74_37 +1 known missense c.1024 p.R342C 0.976 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 230 0 0 259 66 20.3077 TMEM67 0 genome.wustl.edu 37 8 94794663 94794663 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 94794663 94794663 C T SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.1106 p.S369L 0.378 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 116 0 0 110 25 18.5185 CPQ 0 genome.wustl.edu 37 8 97978250 97978250 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 97978250 97978250 G A SNP CPQ ENST00000220763 human ensembl 74_37 +1 known missense c.937 p.A313T 1.000 pfam_Peptidase_M28,pfam_Peptidase_M20 pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 69 0 0 70 13 15.6627 CCDC180 0 genome.wustl.edu 37 9 100088885 100088885 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 100088885 100088885 G T SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.1727 p.S576I 0.831 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 290 0 0 192 84 30.4348 TRIM14 0 genome.wustl.edu 37 9 100849874 100849874 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 100849874 100849874 C T SNP TRIM14 ENST00000341469 human ensembl 74_37 -1 known missense c.1207 p.A403T 0.051 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM14 HGNC ENSG00000106785 12 0 0 10 3 23.0769 GABBR2 0 genome.wustl.edu 37 9 101216327 101216327 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 101216327 101216327 G A SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.1172 p.T391M 0.997 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 75 0 0 63 23 26.7442 ACTL7B 0 genome.wustl.edu 37 9 111617761 111617761 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 111617761 111617761 G A SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known silent c.450 p.S150 0.353 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 65 0 0 62 16 20.5128 LPAR1 0 genome.wustl.edu 37 9 113704261 113704261 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 113704261 113704261 C T SNP LPAR1 ENST00000538760 human ensembl 74_37 -1 known missense c.236 p.R79H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 123 0 0 96 41 29.927 PHF19 0 genome.wustl.edu 37 9 123620372 123620372 + Silent SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 123620372 123620372 G T SNP PHF19 ENST00000373896 human ensembl 74_37 -1 known silent c.1593 p.S531 0.998 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD - no_errors PHF19 HGNC ENSG00000119403 91 0 0 92 18 16.3636 GSN 0 genome.wustl.edu 37 9 124081159 124081159 + Splice_Site SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 124081159 124081159 G A SNP GSN ENST00000373818 human ensembl 74_37 +1 known splice_site c.1344+1 e9+1 1.000 - - - no_errors GSN HGNC ENSG00000148180 66 0 0 52 22 29.7297 CRB2 0 genome.wustl.edu 37 9 126132397 126132397 + Silent SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 126132397 126132397 T C SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known silent c.1065 p.C355 0.992 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 146 1 0.680272 124 45 26.6272 STXBP1 0 genome.wustl.edu 37 9 130416038 130416038 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 130416038 130416038 C T SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known silent c.132 p.C44 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 82 0 0 80 31 27.9279 ODF2 0 genome.wustl.edu 37 9 131254775 131254775 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 131254775 131254775 T C SNP ODF2 ENST00000434106 human ensembl 74_37 +1 known missense c.1607 p.V536A 0.999 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 81 0 0 38 26 40.625 DDX31 0 genome.wustl.edu 37 9 135470282 135470282 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 135470282 135470282 G A SNP DDX31 ENST00000372159 human ensembl 74_37 -1 known missense c.2527 p.R843W 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 333 0 0 224 104 31.7073 RALGDS 0 genome.wustl.edu 37 9 135975816 135975816 + RNA SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 135975816 135975816 G A SNP RALGDS ENST00000469972 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RALGDS HGNC ENSG00000160271 63 0 0 59 34 36.5591 SURF4 0 genome.wustl.edu 37 9 136234223 136234223 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 136234223 136234223 G A SNP SURF4 ENST00000371989 human ensembl 74_37 -1 known silent c.147 p.S49 0.918 pfam_Surf4 pfam_Surf4 - no_errors SURF4 HGNC ENSG00000148248 64 0 0 57 24 29.6296 FCN1 0 genome.wustl.edu 37 9 137806229 137806229 + Splice_Site SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 137806229 137806229 A G SNP FCN1 ENST00000371806 human ensembl 74_37 -1 known splice_site c.307+2 e4+2 1.000 - - - no_errors FCN1 HGNC ENSG00000085265 116 0 0 82 30 26.7857 FCN1 0 genome.wustl.edu 37 9 137809680 137809680 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 137809680 137809680 G T SNP FCN1 ENST00000371806 human ensembl 74_37 -1 known missense c.38 p.A13D 0.001 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN1 HGNC ENSG00000085265 118 0 0 57 24 29.6296 GPSM1 0 genome.wustl.edu 37 9 139229058 139229058 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 139229058 139229058 G A SNP GPSM1 ENST00000440944 human ensembl 74_37 +1 known missense c.223 p.A75T 1.000 smart_TPR_repeat pfam_GoLoco_motif,pfam_TPR_1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM1 HGNC ENSG00000160360 48 0 0 31 9 22.5 MAMDC4 0 genome.wustl.edu 37 9 139748339 139748339 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 139748339 139748339 C T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known missense c.565 p.R189C 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 52 0 0 31 17 35.4167 ENTPD8 0 genome.wustl.edu 37 9 140330594 140330594 + Silent SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 140330594 140330594 A G SNP ENTPD8 ENST00000371506 human ensembl 74_37 -1 known silent c.921 p.V307 0.166 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENSG00000188833 75 0 0 59 21 26.25 EHMT1 0 genome.wustl.edu 37 9 140729301 140729301 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 140729301 140729301 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.3793 p.H1265Y 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 EHMT1 HGNC ENSG00000181090 53 0 0 20 12 37.5 TUBBP5 0 genome.wustl.edu 37 9 141071577 141071577 + RNA SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 141071577 141071577 C T SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 166 0 0 116 40 25.641 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 188 1 0.529101 191 11 5.44554 ADAMTSL1 0 genome.wustl.edu 37 9 18706941 18706941 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 18706941 18706941 A G SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.1771 p.N591D 0.011 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 59 0 0 36 13 26.5306 CAAP1 0 genome.wustl.edu 37 9 26842535 26842535 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 26842535 26842535 C T SNP CAAP1 ENST00000333916 human ensembl 74_37 -1 known missense c.850 p.V284I 0.990 NULL NULL - no_errors CAAP1 HGNC ENSG00000120159 459 0 0 500 30 5.66038 PLAA 0 genome.wustl.edu 37 9 26919401 26919401 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 26919401 26919401 T C SNP PLAA ENST00000397292 human ensembl 74_37 -1 known missense c.1324 p.M442V 1.000 pfam_PLAA_fam_Ub-bd_PFU pfam_PUL,pfam_WD40_repeat,pfam_PLAA_fam_Ub-bd_PFU,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PLAA HGNC ENSG00000137055 337 0 0 241 86 26.2997 AQP7 0 genome.wustl.edu 37 9 33386192 33386192 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 33386192 33386192 C T SNP AQP7 ENST00000297988 human ensembl 74_37 -1 known silent c.408 p.T136 0.005 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP7 HGNC ENSG00000165269 106 0 0 100 17 14.5299 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 67 0 0 60 4 6.25 KIF24 0 genome.wustl.edu 37 9 34271901 34271901 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 34271901 34271901 T C SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known missense c.1243 p.S415G 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 19 0 0 13 8 38.0952 NUDT2 0 genome.wustl.edu 37 9 34339041 34339041 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 34339041 34339041 G A SNP NUDT2 ENST00000346365 human ensembl 74_37 +1 known missense c.4 p.A2T 1.000 superfamily_NUDIX_hydrolase_dom-like,prints_Tetra_PHTase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Tetra_PHTase - no_errors NUDT2 HGNC ENSG00000164978 189 0 0 155 71 31.4159 STOML2 0 genome.wustl.edu 37 9 35101481 35101481 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 35101481 35101481 C T SNP STOML2 ENST00000356493 human ensembl 74_37 -1 known missense c.521 p.R174H 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML2 HGNC ENSG00000165283 222 0 0 135 57 29.6875 TESK1 0 genome.wustl.edu 37 9 35609590 35609590 + Missense_Mutation SNP T T G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 35609590 35609590 T G SNP TESK1 ENST00000336395 human ensembl 74_37 +1 known missense c.1732 p.F578V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 60 0 0 45 14 23.7288 SPAG8 0 genome.wustl.edu 37 9 35810888 35810888 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 35810888 35810888 G A SNP SPAG8 ENST00000340291 human ensembl 74_37 -1 known missense c.1031 p.P344L 0.202 NULL prints_Antifreeze_1 - no_errors SPAG8 HGNC ENSG00000137098 134 0 0 95 33 25.7812 CLTA 0 genome.wustl.edu 37 9 36209304 36209304 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 36209304 36209304 G A SNP CLTA ENST00000242285 human ensembl 74_37 +1 known missense c.526 p.V176M 1.000 pfam_Clathrin_L-chain pfam_Clathrin_L-chain - no_errors CLTA HGNC ENSG00000122705 144 0 0 83 37 30.8333 ALDH1B1 0 genome.wustl.edu 37 9 38396879 38396879 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 38396879 38396879 G T SNP ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known missense c.1134 p.Q378H 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 95 0 0 71 22 23.6559 DOCK8 0 genome.wustl.edu 37 9 428479 428479 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 428479 428479 C T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.4456 p.R1486C 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 123 1 0.806452 106 33 23.741 KANK1 0 genome.wustl.edu 37 9 676999 676999 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 676999 676999 C T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known silent c.27 p.G9 0.995 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 185 0 0 119 43 26.5432 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 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 71 0 0 104 38 26.7606 KANK1 0 genome.wustl.edu 37 9 712829 712829 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 712829 712829 C T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.2063 p.T688M 0.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 38 0 0 37 19 33.9286 FAM189A2 0 genome.wustl.edu 37 9 72003185 72003185 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 72003185 72003185 G A SNP FAM189A2 ENST00000257515 human ensembl 74_37 +1 known missense c.968 p.R323Q 0.066 NULL pfam_CD20-like - no_errors FAM189A2 HGNC ENSG00000135063 85 0 0 77 25 24.5098 MAMDC2 0 genome.wustl.edu 37 9 72727953 72727953 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 72727953 72727953 G A SNP MAMDC2 ENST00000377182 human ensembl 74_37 +1 known missense c.548 p.R183H 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 151 1 0.657895 85 45 34.6154 TRPM3 0 genome.wustl.edu 37 9 73152286 73152286 + Missense_Mutation SNP T T C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 73152286 73152286 T C SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.3788 p.N1263S 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 58 0 0 43 15 25.8621 TRPM3 0 genome.wustl.edu 37 9 73213485 73213485 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 73213485 73213485 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.2943 p.V981 0.012 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 195 0 0 125 50 28.5714 PCSK5 0 genome.wustl.edu 37 9 78773924 78773924 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 78773924 78773924 C T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.1456 p.R486C 1.000 superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 257 0 0 206 65 23.9852 FOXB2 0 genome.wustl.edu 37 9 79635540 79635540 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 79635540 79635540 G T SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known missense c.970 p.A324S 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 8 0 0 6 5 45.4545 C9orf170 0 genome.wustl.edu 37 9 89763701 89763701 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 89763701 89763701 G T SNP C9orf170 ENST00000375941 human ensembl 74_37 +1 known missense c.56 p.G19V 0.000 NULL NULL - no_errors C9orf170 HGNC ENSG00000204446 21 0 0 19 4 17.3913 ROR2 0 genome.wustl.edu 37 9 94486805 94486805 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 94486805 94486805 G A SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known silent c.1971 p.R657 0.979 pirsf_Tyr_kinase_rcpt_ROR,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 55 0 0 42 14 25 IARS 0 genome.wustl.edu 37 9 94984874 94984874 + Missense_Mutation SNP A A G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 94984874 94984874 A G SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.3634 p.Y1212H 0.438 NULL pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 352 0 0 281 116 29.2191 NOL8 0 genome.wustl.edu 37 9 95076606 95076606 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 95076606 95076606 C T SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known silent c.2301 p.A767 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 120 0 0 76 40 34.4828 BICD2 0 genome.wustl.edu 37 9 95480885 95480885 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 95480885 95480885 G A SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.2042 p.S681L 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 252 0 0 170 80 32 ZNF484 0 genome.wustl.edu 37 9 95610073 95610073 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 95610073 95610073 G A SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known silent c.1002 p.D334 0.002 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 ZNF484 HGNC ENSG00000127081 251 0 0 204 19 8.52018 FAM120A 0 genome.wustl.edu 37 9 96278468 96278468 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 96278468 96278468 C T SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known silent c.1335 p.P445 0.998 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 44 0 0 37 17 31.4815 PTPDC1 0 genome.wustl.edu 37 9 96859910 96859910 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 96859910 96859910 G A SNP PTPDC1 ENST00000375360 human ensembl 74_37 +1 known silent c.900 p.A300 0.751 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 186 0 0 125 77 38.1188 ERCC6L2 0 genome.wustl.edu 37 9 98678714 98678714 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 98678714 98678714 C T SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.622 p.R208W 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 86 0 0 55 22 28.5714 DRP2 0 genome.wustl.edu 37 X 100505520 100505520 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 100505520 100505520 C T SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.1649 p.A550V 1.000 pfam_EF-hand_dom_typ2,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 152 0 0 94 14 12.963 ARMCX2 0 genome.wustl.edu 37 X 100912688 100912688 + RNA SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 100912688 100912688 G T SNP ARMCX2 ENST00000467416 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ARMCX2 HGNC ENSG00000184867 43 0 0 6 13 68.4211 GPRASP1 0 genome.wustl.edu 37 X 101912901 101912901 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 101912901 101912901 G A SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.4060 p.V1354M 0.000 pfam_ARM-rpt_dom pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 122 0 0 62 38 38 IRS4 0 genome.wustl.edu 37 X 107978396 107978396 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 107978396 107978396 C T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.1179 p.M393I 0.012 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 158 0 0 58 40 40.8163 ATP11C 0 genome.wustl.edu 37 X 138856898 138856898 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 138856898 138856898 G A SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known missense c.2176 p.R726C 1.000 superfamily_HAD-like_dom,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,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 233 0 0 93 52 35.8621 MAGEA8 0 genome.wustl.edu 37 X 149013706 149013706 + Silent SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 149013706 149013706 G A SNP MAGEA8 ENST00000286482 human ensembl 74_37 +1 known silent c.660 p.P220 0.011 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 113 1 0.877193 48 29 37.6623 ZNF185 0 genome.wustl.edu 37 X 152134007 152134007 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 152134007 152134007 G A SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known missense c.1828 p.V610M 0.498 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 9 0 0 1 4 80 MAGEA1 0 genome.wustl.edu 37 X 152482678 152482678 + Silent SNP A A C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 152482678 152482678 A C SNP MAGEA1 ENST00000356661 human ensembl 74_37 -1 known silent c.333 p.G111 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA1 HGNC ENSG00000198681 308 0 0 126 80 38.835 PDZD4 0 genome.wustl.edu 37 X 153069625 153069625 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 153069625 153069625 C T SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known missense c.1493 p.G498D 0.806 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 13 0 0 5 6 54.5455 PDZD4 0 genome.wustl.edu 37 X 153072791 153072791 + Silent SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 153072791 153072791 C T SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known silent c.330 p.A110 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 17 0 0 10 3 23.0769 OPN1LW 0 genome.wustl.edu 37 X 153421950 153421950 + Missense_Mutation SNP A A T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 153421950 153421950 A T SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known missense c.926 p.Y309F 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 429 0 0 278 19 6.39731 GAB3 0 genome.wustl.edu 37 X 153944504 153944504 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 153944504 153944504 C T SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known missense c.173 p.R58Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 209 0 0 100 72 41.8605 P2RY8 0 genome.wustl.edu 37 X 1585333 1585333 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 1585333 1585333 C T SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known missense c.119 p.G40D 0.983 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 19 0 0 10 5 33.3333 KLHL34 0 genome.wustl.edu 37 X 21675213 21675213 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 21675213 21675213 C T SNP KLHL34 ENST00000379499 human ensembl 74_37 -1 known missense c.694 p.V232I 0.244 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 23 0 0 14 7 33.3333 MXRA5 0 genome.wustl.edu 37 X 3241477 3241477 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 3241477 3241477 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.2249 p.S750L 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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 MXRA5 HGNC ENSG00000101825 185 0 0 82 72 46.7532 FAM47C 0 genome.wustl.edu 37 X 37026509 37026509 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 37026509 37026509 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.26 p.R9Q 0.006 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 29 0 0 16 6 27.2727 FAM47C 0 genome.wustl.edu 37 X 37027955 37027955 + Missense_Mutation SNP C C A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 37027955 37027955 C A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1472 p.P491H 0.025 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 125 0 0 51 41 44.5652 CYBB 0 genome.wustl.edu 37 X 37663304 37663304 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 37663304 37663304 G A SNP CYBB ENST00000378588 human ensembl 74_37 +1 known missense c.1072 p.V358I 0.997 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 154 0 0 49 59 54.6296 SRPX 0 genome.wustl.edu 37 X 38019423 38019423 + Missense_Mutation SNP G G T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 38019423 38019423 G T SNP SRPX ENST00000378533 human ensembl 74_37 -1 known missense c.802 p.P268T 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 107 0 0 45 23 33.8235 AR 0 genome.wustl.edu 37 X 66765796 66765796 + Missense_Mutation SNP G G A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 66765796 66765796 G A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.808 p.A270T 0.613 pfam_Andrgn_rcpt,prints_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 120 0 0 60 30 33.3333 CYLC1 0 genome.wustl.edu 37 X 83126520 83126520 + Missense_Mutation SNP C C T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 83126520 83126520 C T SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.119 p.P40L 0.602 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 137 0 0 51 34 40 WDR47 0 genome.wustl.edu 37 1 109560141 109560141 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 109560141 109560141 T - DEL WDR47 ENST00000400794 human ensembl 74_37 -1 known frame_shift_del c.241 p.R81fs 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 151 0 0 118 41 25.7862 MAGI3 0 genome.wustl.edu 37 1 114225581 114225581 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 114225581 114225581 C - DEL MAGI3 ENST00000307546 human ensembl 74_37 +1 novel frame_shift_del c.3391 p.P1132fs 0.083 NULL 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 80 0 0 67 20 22.9885 ITGA10 0 genome.wustl.edu 37 1 145527707 145527708 + Frame_Shift_Ins INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 145527707 145527708 - G INS ITGA10 ENST00000369304 human ensembl 74_37 +1 known frame_shift_ins c.147_148 p.G51fs 1.000:1.000 smart_Int_alpha_beta-p 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 ITGA10 HGNC ENSG00000143127 139 0 0 87 19 17.9245 HIST2H2AC 0 genome.wustl.edu 37 1 149858742 149858744 + In_Frame_Del DEL ACA ACA - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 149858742 149858744 ACA - DEL HIST2H2AC ENST00000331380 human ensembl 74_37 +1 known in_frame_del c.218_220 p.N74in_frame_del 1.000:1.000:1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC ENSG00000184260 78 0 0 67 17 20.2381 SETDB1 0 genome.wustl.edu 37 1 150917623 150917624 + Frame_Shift_Ins INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 150917623 150917624 - G INS SETDB1 ENST00000368962 human ensembl 74_37 +1 known frame_shift_ins c.1179_1180 p.T396fs 0.000:0.000 NULL smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 46 0 0 40 8 16.6667 SETDB1 0 genome.wustl.edu 37 1 150933382 150933382 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 150933382 150933382 C - DEL SETDB1 ENST00000271640 human ensembl 74_37 +1 known frame_shift_del c.2844 p.P950fs 0.922 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 183 0 0 139 58 29.4416 S100A2 0 genome.wustl.edu 37 1 153536253 153536254 + Frame_Shift_Ins INS - - C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 153536253 153536254 - C INS S100A2 ENST00000368708 human ensembl 74_37 -1 known frame_shift_ins c.98_97 p.E33fs 1.000:1.000 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A2 HGNC ENSG00000196754 72 0 0 74 20 21.2766 SHC1 0 genome.wustl.edu 37 1 154942911 154942911 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 154942911 154942911 G - DEL SHC1 ENST00000368445 human ensembl 74_37 -1 known frame_shift_del c.92 p.P31fs 1.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 64 0 0 58 15 20.5479 GBA 0 genome.wustl.edu 37 1 155209816 155209817 + Frame_Shift_Ins INS - - AC TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 155209816 155209817 - AC INS GBA ENST00000327247 human ensembl 74_37 -1 known frame_shift_ins c.168_167 p.C57fs 1.000:1.000 pfam_Glyco_hydro_30,prints_Glyco_hydro_30 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 46 0 0 36 12 25 GON4L 0 genome.wustl.edu 37 1 155823172 155823172 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 155823172 155823172 T - DEL GON4L ENST00000368331 human ensembl 74_37 -1 known frame_shift_del c.400 p.M134fs 0.269 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 286 0 0 225 75 25 FCRL3 0 genome.wustl.edu 37 1 157666959 157666960 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 157666959 157666960 - T INS FCRL3 ENST00000492769 human ensembl 74_37 -1 known frame_shift_ins c.815_814 p.R272fs 0.000:0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 126 0 0 111 27 19.5652 OR10T2 0 genome.wustl.edu 37 1 158368943 158368943 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 158368943 158368943 A - DEL OR10T2 ENST00000334438 human ensembl 74_37 -1 known frame_shift_del c.314 p.F105fs 0.926 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 OR10T2 HGNC ENSG00000186306 123 0 0 87 24 21.6216 PPOX 0 genome.wustl.edu 37 1 161140288 161140288 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 161140288 161140288 C - DEL PPOX ENST00000352210 human ensembl 74_37 +1 known frame_shift_del c.1077 p.P361fs 0.095 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 117 0 0 103 22 17.6 DCAF6 0 genome.wustl.edu 37 1 167992232 167992234 + In_Frame_Del DEL CTT CTT - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 167992232 167992234 CTT - DEL DCAF6 ENST00000367840 human ensembl 74_37 +1 known in_frame_del c.1556_1558 p.S521in_frame_del 1.000:1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 79 0 0 57 16 21.9178 SLC9C2 0 genome.wustl.edu 37 1 173552687 173552688 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 173552687 173552688 - A INS SLC9C2 ENST00000367714 human ensembl 74_37 -1 known frame_shift_ins c.598_597 p.G199fs 0.205:0.212 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 188 0 0 152 35 18.7166 ARHGEF10L 0 genome.wustl.edu 37 1 17914103 17914103 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 17914103 17914103 C - DEL ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known frame_shift_del c.186 p.P64fs 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 366 0 0 334 25 6.96379 UBR4 0 genome.wustl.edu 37 1 19467923 19467923 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 19467923 19467923 G - DEL UBR4 ENST00000375267 human ensembl 74_37 -1 known frame_shift_del c.8406 p.M2803fs 0.484 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 90 0 0 80 22 21.5686 PTPN7 0 genome.wustl.edu 37 1 202128510 202128510 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 202128510 202128510 C - DEL PTPN7 ENST00000309017 human ensembl 74_37 -1 known frame_shift_del c.336 p.R113fs 0.040 NULL pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN7 HGNC ENSG00000143851 50 0 0 44 22 33.3333 NFASC 0 genome.wustl.edu 37 1 204924033 204924033 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 204924033 204924033 C - DEL NFASC ENST00000367172 human ensembl 74_37 +1 known frame_shift_del c.489 p.P165fs 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 303 0 0 230 68 22.8188 HHIPL2 0 genome.wustl.edu 37 1 222721257 222721257 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 222721257 222721257 G - DEL HHIPL2 ENST00000343410 human ensembl 74_37 -1 known frame_shift_del c.130 p.Q44fs 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 68 0 0 52 11 17.4603 ADCK3 0 genome.wustl.edu 37 1 227170378 227170380 + Splice_Site DEL GAT GAT - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 227170378 227170380 GAT - DEL ADCK3 ENST00000366777 human ensembl 74_37 +1 known splice_site_del c.854-1_854-1 e6-1 1.000:1.000:0.722 - - - no_errors ADCK3 HGNC ENSG00000163050 110 0 0 90 26 22.4138 ZBTB40 0 genome.wustl.edu 37 1 22817980 22817981 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 22817980 22817981 - A INS ZBTB40 ENST00000375647 human ensembl 74_37 +1 known frame_shift_ins c.785_786 p.L265fs 0.931:0.926 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 214 0 0 181 65 26.4228 AGT 0 genome.wustl.edu 37 1 230839055 230839055 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 230839055 230839055 A - DEL AGT ENST00000366667 human ensembl 74_37 -1 known frame_shift_del c.1290 p.F430fs 0.354 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen - no_errors AGT HGNC ENSG00000135744 102 0 0 101 29 22.3077 EXO1 0 genome.wustl.edu 37 1 242045292 242045292 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 242045292 242045292 A - DEL EXO1 ENST00000348581 human ensembl 74_37 +1 known frame_shift_del c.2184 p.D731fs 0.001 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 133 0 0 97 13 11.8182 ARID1A 0 genome.wustl.edu 37 1 27100176 27100176 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 27100176 27100176 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.3972 p.P1326fs 1.000 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 101 0 0 84 20 19.2308 XKR8 0 genome.wustl.edu 37 1 28293415 28293417 + In_Frame_Del DEL CTC CTC - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 28293415 28293417 CTC - DEL XKR8 ENST00000373884 human ensembl 74_37 +1 known in_frame_del c.892_894 p.L299in_frame_del 0.923:0.994:0.984 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR8 HGNC ENSG00000158156 60 0 0 50 21 29.5775 PHACTR4 0 genome.wustl.edu 37 1 28819557 28819557 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 28819557 28819557 A - DEL PHACTR4 ENST00000373836 human ensembl 74_37 +1 known frame_shift_del c.2077 p.S694fs 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 206 0 0 195 42 17.7215 EXO5 0 genome.wustl.edu 37 1 40980783 40980783 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 40980783 40980783 G - DEL EXO5 ENST00000296380 human ensembl 74_37 +1 known frame_shift_del c.567 p.E191fs 0.998 pfam_EXOV pfam_EXOV - no_errors EXO5 HGNC ENSG00000164002 185 0 0 156 54 25.7143 MED8 0 genome.wustl.edu 37 1 43850143 43850143 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 43850143 43850143 T - DEL MED8 ENST00000290663 human ensembl 74_37 -1 known frame_shift_del c.884 p.N295fs 0.000 NULL pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 20 0 0 22 7 24.1379 GLIS1 0 genome.wustl.edu 37 1 53975643 53975644 + Frame_Shift_Ins INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 53975643 53975644 - G INS GLIS1 ENST00000312233 human ensembl 74_37 -1 known frame_shift_ins c.1416_1415 p.P473fs 0.000:0.361 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 9 0 0 6 2 25 DOCK7 0 genome.wustl.edu 37 1 62979269 62979269 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 62979269 62979269 T - DEL DOCK7 ENST00000251157 human ensembl 74_37 -1 known frame_shift_del c.4128 p.V1377fs 0.998 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 159 0 0 87 32 26.8908 SGIP1 0 genome.wustl.edu 37 1 67099769 67099769 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 67099769 67099769 A - DEL SGIP1 ENST00000237247 human ensembl 74_37 +1 known frame_shift_del c.106 p.K38fs 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 34 0 0 15 8 34.7826 FPGT 0 genome.wustl.edu 37 1 74671498 74671498 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 74671498 74671498 A - DEL FPGT ENST00000370898 human ensembl 74_37 +1 known frame_shift_del c.1806 p.S604fs 0.010 pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 118 0 0 106 30 22.0588 CLSTN1 0 genome.wustl.edu 37 1 9809959 9809959 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 1 9809959 9809959 T - DEL CLSTN1 ENST00000377298 human ensembl 74_37 -1 known frame_shift_del c.662 p.N221fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 91 0 0 73 22 23.1579 PPRC1 0 genome.wustl.edu 37 10 103900371 103900371 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 103900371 103900371 G - DEL PPRC1 ENST00000278070 human ensembl 74_37 +1 known frame_shift_del c.2106 p.G704fs 0.022 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 97 0 0 100 30 23.0769 PPRC1 0 genome.wustl.edu 37 10 103901076 103901077 + Frame_Shift_Ins INS - - C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 103901076 103901077 - C INS PPRC1 ENST00000278070 human ensembl 74_37 +1 known frame_shift_ins c.2811_2812 p.P940fs 0.999:0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 75 0 0 66 10 13.1579 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 170 0 0 108 26 19.403 EIF3A 0 genome.wustl.edu 37 10 120797783 120797784 + Frame_Shift_Del DEL TC TC - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 120797783 120797784 TC - DEL EIF3A ENST00000369144 human ensembl 74_37 -1 known frame_shift_del c.3695_3694 p.D1232fs 0.986:1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 122 0 0 91 16 14.9533 TACC2 0 genome.wustl.edu 37 10 123974941 123974943 + In_Frame_Del DEL CTC CTC - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 123974941 123974943 CTC - DEL TACC2 ENST00000334433 human ensembl 74_37 +1 known in_frame_del c.7319_7321 p.P2441in_frame_del 1.000:1.000:1.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 326 0 0 246 62 20.1299 C10orf120 0 genome.wustl.edu 37 10 124457494 124457495 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 124457494 124457495 - T INS C10orf120 ENST00000329446 human ensembl 74_37 -1 known frame_shift_ins c.763_762 p.C254fs 0.000:0.000 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 272 0 0 193 76 28.2528 MKI67 0 genome.wustl.edu 37 10 129902203 129902204 + Frame_Shift_Ins INS - - TG TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 129902203 129902204 - TG INS MKI67 ENST00000368654 human ensembl 74_37 -1 known frame_shift_ins c.7901_7900 p.K2634fs 0.000:0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 271 0 0 235 40 14.5455 ZNF365 0 genome.wustl.edu 37 10 64159513 64159513 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 64159513 64159513 A - DEL ZNF365 ENST00000395254 human ensembl 74_37 +1 known frame_shift_del c.1189 p.K399fs 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 45 0 0 35 10 22.2222 JMJD1C 0 genome.wustl.edu 37 10 64958470 64958470 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 64958470 64958470 T - DEL JMJD1C ENST00000399262 human ensembl 74_37 -1 known frame_shift_del c.5294 p.N1765fs 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 225 0 0 182 43 19.1111 VCL 0 genome.wustl.edu 37 10 75864868 75864868 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 75864868 75864868 A - DEL VCL ENST00000211998 human ensembl 74_37 +1 known frame_shift_del c.2191 p.D733fs 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 88 0 0 75 16 17.5824 MBL1P 0 genome.wustl.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 81680656 81680656 A - DEL MBL1P ENST00000480805 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MBL1P HGNC ENSG00000242600 10 0 0 7 4 36.3636 BMPR1A 0 genome.wustl.edu 37 10 88651973 88651974 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 88651973 88651974 - T INS BMPR1A ENST00000372037 human ensembl 74_37 +1 known frame_shift_ins c.320_321 p.Q109fs 1.000:0.998 pfam_Activin_rcpt 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 BMPR1A HGNC ENSG00000107779 84 0 0 76 15 16.4835 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 157 0 0 116 43 27.044 SLC16A12 0 genome.wustl.edu 37 10 91203598 91203598 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 91203598 91203598 A - DEL SLC16A12 ENST00000371790 human ensembl 74_37 -1 known frame_shift_del c.219 p.F73fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 97 0 0 86 24 21.8182 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 117 0 0 58 66 53.2258 MMP10 0 genome.wustl.edu 37 11 102650394 102650395 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 102650394 102650395 - T INS MMP10 ENST00000279441 human ensembl 74_37 -1 known frame_shift_ins c.188_187 p.I63fs 0.998:1.000 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP10 HGNC ENSG00000166670 107 0 0 96 30 23.8095 C11orf57 0 genome.wustl.edu 37 11 111953316 111953316 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 111953316 111953316 A - DEL C11orf57 ENST00000393047 human ensembl 74_37 +1 known frame_shift_del c.502 p.K169fs 1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 110 0 0 77 27 25.9615 CD3G 0 genome.wustl.edu 37 11 118220583 118220583 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 118220583 118220583 A - DEL CD3G ENST00000532917 human ensembl 74_37 +1 known frame_shift_del c.205 p.K71fs 0.000 smart_Ig_sub2 pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3G HGNC ENSG00000160654 115 0 0 66 58 46.7742 HYOU1 0 genome.wustl.edu 37 11 118918525 118918526 + Frame_Shift_Ins INS - - C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 118918525 118918526 - C INS HYOU1 ENST00000404233 human ensembl 74_37 -1 known frame_shift_ins c.2516_2515 p.A839fs 1.000:1.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 77 0 0 68 24 26.087 CBL 0 genome.wustl.edu 37 11 119155727 119155727 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 119155727 119155727 C - DEL CBL ENST00000264033 human ensembl 74_37 +1 known frame_shift_del c.1480 p.P495fs 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 147 0 0 117 27 18.75 SORL1 0 genome.wustl.edu 37 11 121475905 121475905 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 121475905 121475905 A - DEL SORL1 ENST00000260197 human ensembl 74_37 +1 known frame_shift_del c.4735 p.M1581fs 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 247 0 0 191 33 14.7321 ROBO3 0 genome.wustl.edu 37 11 124745497 124745497 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 124745497 124745497 G - DEL ROBO3 ENST00000397801 human ensembl 74_37 +1 known frame_shift_del c.2337 p.G781fs 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 22 0 0 27 7 20.5882 MUC5B 0 genome.wustl.edu 37 11 1267481 1267481 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 1267481 1267481 C - DEL MUC5B ENST00000447027 human ensembl 74_37 +1 known frame_shift_del c.9380 p.S3129fs 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 115 0 0 101 17 14.4068 MUC5B 0 genome.wustl.edu 37 11 1271471 1271472 + Frame_Shift_Del DEL GC GC - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 1271471 1271472 GC - DEL MUC5B ENST00000447027 human ensembl 74_37 +1 known frame_shift_del c.13370_13371 p.S4457fs 0.003:0.007 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 131 0 0 130 10 7.14286 PDE3B 0 genome.wustl.edu 37 11 14880754 14880754 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 14880754 14880754 A - DEL PDE3B ENST00000282096 human ensembl 74_37 +1 known frame_shift_del c.2686 p.K897fs 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 180 0 0 140 42 23.0769 OR51E1 0 genome.wustl.edu 37 11 4674217 4674217 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 4674217 4674217 G - DEL OR51E1 ENST00000396952 human ensembl 74_37 +1 known frame_shift_del c.461 p.A156fs 0.966 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 OR51E1 HGNC ENSG00000180785 107 0 0 94 22 18.9655 NUP160 0 genome.wustl.edu 37 11 47828647 47828648 + Frame_Shift_Del DEL AG AG - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 47828647 47828648 AG - DEL NUP160 ENST00000378460 human ensembl 74_37 -1 known frame_shift_del c.2421_2420 p.S807fs 0.247:0.993 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 142 0 0 125 25 16.6667 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 114 0 0 70 18 20.4545 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 69 0 0 49 13 20.9677 CTNND1 0 genome.wustl.edu 37 11 57558992 57558993 + Frame_Shift_Del DEL CT CT - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 57558992 57558993 CT - DEL CTNND1 ENST00000399050 human ensembl 74_37 +1 known frame_shift_del c.42_43 p.S15fs 1.000:1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 8 0 0 6 4 40 CDHR5 0 genome.wustl.edu 37 11 618899 618900 + Frame_Shift_Ins INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 618899 618900 - G INS CDHR5 ENST00000358353 human ensembl 74_37 -1 known frame_shift_ins c.1660_1659 p.G553fs 0.000:0.000 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 193 0 0 189 29 13.3028 RPS6KA4 0 genome.wustl.edu 37 11 64132907 64132907 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 64132907 64132907 C - DEL RPS6KA4 ENST00000334205 human ensembl 74_37 +1 known frame_shift_del c.1041 p.P349fs 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA4 HGNC ENSG00000162302 80 0 0 57 9 13.6364 KLC2 0 genome.wustl.edu 37 11 66033664 66033664 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 66033664 66033664 C - DEL KLC2 ENST00000316924 human ensembl 74_37 +1 known frame_shift_del c.1703 p.Q570fs 0.984 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 52 0 0 50 10 16.6667 IGHMBP2 0 genome.wustl.edu 37 11 68696803 68696803 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 68696803 68696803 C - DEL IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known frame_shift_del c.1213 p.T407fs 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 83 0 0 75 7 8.53659 KRTAP5-11 0 genome.wustl.edu 37 11 71293816 71293816 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 71293816 71293816 C - DEL KRTAP5-11 ENST00000398530 human ensembl 74_37 -1 known frame_shift_del c.68 p.G23fs 1.000 NULL NULL - no_errors KRTAP5-11 HGNC ENSG00000204571 69 0 0 80 11 12.0879 FCHSD2 0 genome.wustl.edu 37 11 72712093 72712093 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 11 72712093 72712093 T - DEL FCHSD2 ENST00000409418 human ensembl 74_37 -1 known frame_shift_del c.329 p.N110fs 1.000 NULL pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 47 0 0 29 14 32.5581 GAS2L3 0 genome.wustl.edu 37 12 101017470 101017470 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 101017470 101017470 A - DEL GAS2L3 ENST00000266754 human ensembl 74_37 +1 known frame_shift_del c.887 p.G298fs 1.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 142 0 0 111 38 25.5034 SYCP3 0 genome.wustl.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 102122901 102122901 T - DEL SYCP3 ENST00000266743 human ensembl 74_37 -1 known frame_shift_del c.643 p.I215fs 0.988 NULL pfam_Cor1/Xlr/Xmr - no_errors SYCP3 HGNC ENSG00000139351 107 0 0 73 34 31.7757 APPL2 0 genome.wustl.edu 37 12 105570796 105570797 + Splice_Site INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 105570796 105570797 - G INS APPL2 ENST00000551662 human ensembl 74_37 -1 known splice_site_ins c.1690-3_1690-2 e19-2 0.997:0.192 - - - no_errors APPL2 HGNC ENSG00000136044 146 0 0 94 28 22.9508 TAS2R50 0 genome.wustl.edu 37 12 11139431 11139432 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 11139431 11139432 - A INS TAS2R50 ENST00000506868 human ensembl 74_37 -1 known frame_shift_ins c.29_28 p.S10fs 0.001:0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 108 0 0 94 23 19.6581 PRKAB1 0 genome.wustl.edu 37 12 120106123 120106124 + Frame_Shift_Ins INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 120106123 120106124 - G INS PRKAB1 ENST00000229328 human ensembl 74_37 +1 known frame_shift_ins c.74_75 p.T28fs 0.990:0.643 NULL pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB1 HGNC ENSG00000111725 24 0 0 36 5 12.1951 DNAH10 0 genome.wustl.edu 37 12 124315113 124315113 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 124315113 124315113 A - DEL DNAH10 ENST00000409039 human ensembl 74_37 +1 known frame_shift_del c.4058 p.T1355fs 1.000 pfam_Dynein_heavy_dom-2,superfamily_PyrdxlP-dep_Trfase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 177 0 0 125 30 19.3548 TMEM132D 0 genome.wustl.edu 37 12 130184705 130184705 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 130184705 130184705 G - DEL TMEM132D ENST00000422113 human ensembl 74_37 -1 known frame_shift_del c.618 p.T207fs 0.027 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 47 0 0 38 8 17.3913 STK38L 0 genome.wustl.edu 37 12 27455095 27455097 + In_Frame_Del DEL GAA GAA - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 27455095 27455097 GAA - DEL STK38L ENST00000389032 human ensembl 74_37 +1 known in_frame_del c.160_162 p.E56in_frame_del 1.000:1.000:0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors STK38L HGNC ENSG00000211455 233 0 0 192 40 17.2414 GXYLT1 0 genome.wustl.edu 37 12 42499815 42499816 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 42499815 42499816 - A INS GXYLT1 ENST00000398675 human ensembl 74_37 -1 known frame_shift_ins c.669_668 p.L223fs 0.997:1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 125 0 0 120 31 20.5298 PUS7L 0 genome.wustl.edu 37 12 44139909 44139909 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 44139909 44139909 T - DEL PUS7L ENST00000344862 human ensembl 74_37 -1 known frame_shift_del c.1203 p.K401fs 0.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7L HGNC ENSG00000129317 139 0 0 76 16 17.3913 ARID2 0 genome.wustl.edu 37 12 46215214 46215214 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 46215214 46215214 T - DEL ARID2 ENST00000334344 human ensembl 74_37 +1 known frame_shift_del c.649 p.S218fs 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 153 0 0 119 39 24.6835 SENP1 0 genome.wustl.edu 37 12 48458896 48458896 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 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 123 0 0 73 31 29.8077 KMT2D 0 genome.wustl.edu 37 12 49445525 49445526 + Frame_Shift_Ins INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 49445525 49445526 - G INS KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_ins c.1941_1940 p.P648fs 0.000:0.001 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 66 0 0 53 11 17.1875 ACVR1B 0 genome.wustl.edu 37 12 52379121 52379121 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 52379121 52379121 G - DEL ACVR1B ENST00000257963 human ensembl 74_37 +1 known frame_shift_del c.1125 p.T377fs 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_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 ACVR1B HGNC ENSG00000135503 230 0 0 183 25 12.0192 HOXC10 0 genome.wustl.edu 37 12 54379619 54379619 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 54379619 54379619 G - DEL HOXC10 ENST00000303460 human ensembl 74_37 +1 known frame_shift_del c.576 p.G194fs 0.985 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC10 HGNC ENSG00000180818 71 0 0 54 11 16.9231 OR6C70 0 genome.wustl.edu 37 12 55863619 55863619 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 55863619 55863619 A - DEL OR6C70 ENST00000327335 human ensembl 74_37 -1 known frame_shift_del c.304 p.Y102fs 0.001 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 OR6C70 HGNC ENSG00000184954 126 0 0 111 42 27.451 GLI1 0 genome.wustl.edu 37 12 57864125 57864125 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 57864125 57864125 C - DEL GLI1 ENST00000228682 human ensembl 74_37 +1 known frame_shift_del c.1602 p.P536fs 0.977 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 155 0 0 120 19 13.6691 KIF5A 0 genome.wustl.edu 37 12 57957459 57957459 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 57957459 57957459 A - DEL KIF5A ENST00000455537 human ensembl 74_37 +1 known frame_shift_del c.274 p.T93fs 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 145 0 0 125 33 20.8861 CYP27B1 0 genome.wustl.edu 37 12 58160653 58160654 + Frame_Shift_Ins INS - - C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 58160653 58160654 - C INS CYP27B1 ENST00000228606 human ensembl 74_37 -1 known frame_shift_ins c.172_171 p.L57fs 0.999:0.430 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 128 0 0 113 29 20.4225 AVIL 0 genome.wustl.edu 37 12 58204896 58204896 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 58204896 58204896 C - DEL AVIL ENST00000257861 human ensembl 74_37 -1 known frame_shift_del c.353 p.G118fs 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 192 0 0 157 28 15.1351 IFFO1 0 genome.wustl.edu 37 12 6657973 6657974 + Frame_Shift_Ins INS - - C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 6657973 6657974 - C INS IFFO1 ENST00000356896 human ensembl 74_37 -1 known frame_shift_ins c.1099_1098 p.R366fs 1.000:1.000 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 20 0 0 27 7 20.5882 GRIP1 0 genome.wustl.edu 37 12 66788074 66788074 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 66788074 66788074 C - DEL GRIP1 ENST00000359742 human ensembl 74_37 -1 known frame_shift_del c.2043 p.G684fs 0.965 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 180 0 0 146 46 23.9583 CCT2 0 genome.wustl.edu 37 12 69980100 69980101 + Frame_Shift_Del DEL AG AG - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 69980100 69980101 AG - DEL CCT2 ENST00000299300 human ensembl 74_37 +1 known frame_shift_del c.54_55 p.R20fs 1.000:1.000 superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC ENSG00000166226 270 0 0 237 61 20.4698 RAB3IP 0 genome.wustl.edu 37 12 70150275 70150276 + Frame_Shift_Del DEL AG AG - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 70150275 70150276 AG - DEL RAB3IP ENST00000550536 human ensembl 74_37 +1 known frame_shift_del c.390_391 p.E133fs 1.000:1.000 NULL pfam_Sec2p - no_errors RAB3IP HGNC ENSG00000127328 356 0 0 260 92 26.1364 CEP290 0 genome.wustl.edu 37 12 88512304 88512305 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 88512304 88512305 - T INS CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_ins c.1673_1672 p.I558fs 1.000:0.983 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 23 0 0 17 7 29.1667 CCDC38 0 genome.wustl.edu 37 12 96292432 96292432 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 12 96292432 96292432 T - DEL CCDC38 ENST00000344280 human ensembl 74_37 -1 known frame_shift_del c.447 p.A150fs 0.125 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 153 0 0 115 49 29.878 PCCA 0 genome.wustl.edu 37 13 100925452 100925452 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 100925452 100925452 T - DEL PCCA ENST00000376285 human ensembl 74_37 +1 known frame_shift_del c.917 p.L308fs 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom 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_RimK-type,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_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 100 0 0 60 25 29.4118 ZMYM2 0 genome.wustl.edu 37 13 20638677 20638677 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 20638677 20638677 A - DEL ZMYM2 ENST00000382869 human ensembl 74_37 +1 known frame_shift_del c.3124 p.K1044fs 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 18 0 0 12 9 42.8571 PDS5B 0 genome.wustl.edu 37 13 33344888 33344888 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 33344888 33344888 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.4161 p.N1390fs 0.002 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 14 0 0 14 6 30 KL 0 genome.wustl.edu 37 13 33638206 33638206 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 33638206 33638206 T - DEL KL ENST00000380099 human ensembl 74_37 +1 known frame_shift_del c.2922 p.H977fs 0.191 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 256 0 0 164 59 26.4574 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36764121 36764122 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 36764121 36764122 - T INS CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known frame_shift_ins c.834_833 p.I279fs 1.000:1.000 superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 257 0 0 175 49 21.875 FARP1 0 genome.wustl.edu 37 13 99092237 99092237 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 13 99092237 99092237 G - DEL FARP1 ENST00000376586 human ensembl 74_37 +1 known frame_shift_del c.2549 p.V852fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 367 0 0 335 62 15.6171 HSP90AA1 0 genome.wustl.edu 37 14 102551160 102551161 + In_Frame_Ins INS - - TCT TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 102551160 102551161 - TCT INS HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known in_frame_ins c.1205_1204 p.402in_frame_insK 1.000:1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam 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 HSP90AA1 HGNC ENSG00000080824 106 0 0 93 8 7.92079 TEP1 0 genome.wustl.edu 37 14 20846338 20846338 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 20846338 20846338 C - DEL TEP1 ENST00000262715 human ensembl 74_37 -1 known frame_shift_del c.5566 p.V1856fs 0.030 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom 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 115 0 0 92 16 14.8148 MAP4K5 0 genome.wustl.edu 37 14 50930796 50930796 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 50930796 50930796 T - DEL MAP4K5 ENST00000013125 human ensembl 74_37 -1 known frame_shift_del c.793 p.R265fs 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_Citron,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_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K5 HGNC ENSG00000012983 12 0 0 6 2 25 NID2 0 genome.wustl.edu 37 14 52481919 52481919 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 52481919 52481919 G - DEL NID2 ENST00000216286 human ensembl 74_37 -1 known frame_shift_del c.3103 p.R1035fs 0.061 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 92 0 0 70 13 15.6627 KTN1 0 genome.wustl.edu 37 14 56137475 56137475 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 56137475 56137475 A - DEL KTN1 ENST00000395309 human ensembl 74_37 +1 known frame_shift_del c.3296 p.K1101fs 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 112 0 0 93 17 15.4545 ENSG00000259648 0 genome.wustl.edu 37 14 68082455 68082455 + RNA DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 68082455 68082455 A - DEL ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 48 0 0 38 9 19.1489 ENSG00000259648 0 genome.wustl.edu 37 14 68082888 68082888 + RNA DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 68082888 68082888 A - DEL ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 0.971 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 80 0 0 47 16 25.3968 SNW1 0 genome.wustl.edu 37 14 78197430 78197430 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 78197430 78197430 T - DEL SNW1 ENST00000261531 human ensembl 74_37 -1 known frame_shift_del c.934 p.M312fs 1.000 pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 192 0 0 147 49 25 ZC3H14 0 genome.wustl.edu 37 14 89069238 89069238 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 89069238 89069238 C - DEL ZC3H14 ENST00000251038 human ensembl 74_37 +1 known frame_shift_del c.1581 p.P529fs 1.000 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ENSG00000100722 78 0 0 64 20 23.8095 TRIP11 0 genome.wustl.edu 37 14 92472698 92472698 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 92472698 92472698 T - DEL TRIP11 ENST00000267622 human ensembl 74_37 -1 known frame_shift_del c.1622 p.K541fs 0.995 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 169 0 0 113 45 28.481 TMEM251 0 genome.wustl.edu 37 14 93652902 93652903 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 14 93652902 93652903 - A INS TMEM251 ENST00000415050 human ensembl 74_37 +1 known frame_shift_ins c.396_397 p.T133fs 1.000:1.000 NULL NULL - no_errors TMEM251 HGNC ENSG00000153485 403 0 0 263 82 23.7681 SNHG14 0 genome.wustl.edu 37 15 25449309 25449309 + RNA DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 25449309 25449309 C - DEL SNHG14 ENST00000424333 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SNHG14 HGNC ENSG00000224078 26 0 0 12 6 33.3333 TRPM1 0 genome.wustl.edu 37 15 31294936 31294936 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 31294936 31294936 T - DEL TRPM1 ENST00000542188 human ensembl 74_37 -1 known frame_shift_del c.4018 p.T1340fs 0.634 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 232 0 0 247 13 5 CAPN3 0 genome.wustl.edu 37 15 42646646 42646646 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 42646646 42646646 A - DEL CAPN3 ENST00000356316 human ensembl 74_37 +1 known frame_shift_del c.43 p.N16fs 0.002 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 86 0 0 47 22 31.8841 ZNF106 0 genome.wustl.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 42742957 42742957 A - DEL ZNF106 ENST00000263805 human ensembl 74_37 -1 known frame_shift_del c.1444 p.S482fs 0.139 NULL 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 500 0 0 344 118 25.5411 SIN3A 0 genome.wustl.edu 37 15 75699401 75699402 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 75699401 75699402 - A INS SIN3A ENST00000360439 human ensembl 74_37 -1 known frame_shift_ins c.1402_1401 p.D467fs 1.000:1.000 superfamily_PAH pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 134 0 0 90 17 15.8879 C15orf32 0 genome.wustl.edu 37 15 93015568 93015569 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 15 93015568 93015569 - T INS C15orf32 ENST00000333334 human ensembl 74_37 +1 known frame_shift_ins c.190_191 p.G65fs 0.000:0.001 NULL NULL - no_errors C15orf32 HGNC ENSG00000183643 168 0 0 123 45 26.7857 NDE1 0 genome.wustl.edu 37 16 15788039 15788039 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 15788039 15788039 G - DEL NDE1 ENST00000396353 human ensembl 74_37 +1 known frame_shift_del c.721 p.T243fs 0.076 pfam_NUDE_C pfam_NUDE_C - no_errors NDE1 HGNC ENSG00000072864 48 0 0 40 9 18.3673 CREBBP 0 genome.wustl.edu 37 16 3789629 3789629 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 3789629 3789629 A - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_del c.4230 p.F1410fs 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 96 0 0 59 20 25.3165 VAC14 0 genome.wustl.edu 37 16 70778435 70778435 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 70778435 70778435 G - DEL VAC14 ENST00000261776 human ensembl 74_37 -1 known frame_shift_del c.1419 p.A474fs 0.411 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 65 0 0 56 9 13.8462 MARVELD3 0 genome.wustl.edu 37 16 71668442 71668442 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 71668442 71668442 G - DEL MARVELD3 ENST00000268485 human ensembl 74_37 +1 known frame_shift_del c.942 p.Y317fs 0.000 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 98 0 0 87 22 20.1835 ZC3H18 0 genome.wustl.edu 37 16 88691141 88691141 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 16 88691141 88691141 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2030 p.R680fs 0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 28 0 0 33 3 8.33333 ZC3H18 0 genome.wustl.edu 37 16 88694459 88694459 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 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 115 0 0 131 8 5.7554 MYH4 0 genome.wustl.edu 37 17 10362680 10362680 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 10362680 10362680 A - DEL MYH4 ENST00000255381 human ensembl 74_37 -1 known frame_shift_del c.1475 p.F492fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 289 0 0 218 73 25.0859 DNAH9 0 genome.wustl.edu 37 17 11572475 11572475 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 11572475 11572475 G - DEL DNAH9 ENST00000262442 human ensembl 74_37 +1 known frame_shift_del c.2826 p.G944fs 0.040 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 376 0 0 288 80 21.7391 NCOR1 0 genome.wustl.edu 37 17 15975514 15975514 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 15975514 15975514 C - DEL NCOR1 ENST00000268712 human ensembl 74_37 -1 known frame_shift_del c.3840 p.S1281fs 0.969 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 152 0 0 105 29 21.6418 EFCAB5 0 genome.wustl.edu 37 17 28296060 28296061 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 28296060 28296061 - A INS EFCAB5 ENST00000394835 human ensembl 74_37 +1 known frame_shift_ins c.442_443 p.L151fs 0.000:0.000 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 33 0 0 17 9 34.6154 ASIC2 0 genome.wustl.edu 37 17 31439005 31439005 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 31439005 31439005 C - DEL ASIC2 ENST00000225823 human ensembl 74_37 -1 known frame_shift_del c.789 p.T264fs 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 111 0 0 76 25 24.7525 KRT15 0 genome.wustl.edu 37 17 39674981 39674981 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 39674981 39674981 C - DEL KRT15 ENST00000254043 human ensembl 74_37 -1 known frame_shift_del c.99 p.S34fs 0.623 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT15 HGNC ENSG00000171346 75 0 0 74 21 22.1053 FKBP10 0 genome.wustl.edu 37 17 39975559 39975559 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 39975559 39975559 C - DEL FKBP10 ENST00000321562 human ensembl 74_37 +1 known frame_shift_del c.825 p.G278fs 0.062 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 99 0 0 99 35 26.1194 AOC2 0 genome.wustl.edu 37 17 41001154 41001154 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 41001154 41001154 C - DEL AOC2 ENST00000253799 human ensembl 74_37 +1 known frame_shift_del c.1640 p.W549fs 0.825 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 46 0 0 38 6 13.6364 GPATCH8 0 genome.wustl.edu 37 17 42478310 42478310 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 42478310 42478310 T - DEL GPATCH8 ENST00000591680 human ensembl 74_37 -1 known frame_shift_del c.1135 p.R379fs 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 285 0 0 255 25 8.92857 ADAM11 0 genome.wustl.edu 37 17 42837126 42837126 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 42837126 42837126 G - DEL ADAM11 ENST00000200557 human ensembl 74_37 +1 known frame_shift_del c.98 p.G35fs 0.983 NULL 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,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM11 HGNC ENSG00000073670 112 0 0 103 21 16.9355 CBX1 0 genome.wustl.edu 37 17 46154355 46154355 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 46154355 46154355 T - DEL CBX1 ENST00000225603 human ensembl 74_37 -1 known frame_shift_del c.12 p.K4fs 1.000 NULL 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 CBX1 HGNC ENSG00000108468 290 0 0 244 85 25.8359 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 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 0 144 23 13.7725 UBE2O 0 genome.wustl.edu 37 17 74396261 74396262 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 74396261 74396262 - T INS UBE2O ENST00000319380 human ensembl 74_37 -1 known frame_shift_ins c.1122_1121 p.N374fs 1.000:1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 100 0 0 87 13 13 GAA 0 genome.wustl.edu 37 17 78090814 78090814 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 17 78090814 78090814 G - DEL GAA ENST00000302262 human ensembl 74_37 +1 known frame_shift_del c.2237 p.E748fs 1.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 100 0 0 78 17 17.8947 CEP76 0 genome.wustl.edu 37 18 12699829 12699829 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 12699829 12699829 T - DEL CEP76 ENST00000262127 human ensembl 74_37 -1 known frame_shift_del c.295 p.T99fs 1.000 NULL superfamily_C2_dom - no_errors CEP76 HGNC ENSG00000101624 27 0 0 18 9 33.3333 CDH2 0 genome.wustl.edu 37 18 25570168 25570168 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 25570168 25570168 A - DEL CDH2 ENST00000269141 human ensembl 74_37 -1 known frame_shift_del c.1491 p.F497fs 0.997 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 196 0 0 117 35 23.0263 KLHL14 0 genome.wustl.edu 37 18 30349862 30349862 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 30349862 30349862 G - DEL KLHL14 ENST00000359358 human ensembl 74_37 -1 known frame_shift_del c.693 p.V232fs 0.982 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 72 0 0 42 16 27.5862 ASXL3 0 genome.wustl.edu 37 18 31318770 31318771 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 31318770 31318771 - A INS ASXL3 ENST00000269197 human ensembl 74_37 +1 known frame_shift_ins c.1402_1403 p.N469fs 1.000:1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 110 0 0 79 29 26.8519 WDR7 0 genome.wustl.edu 37 18 54424020 54424020 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 54424020 54424020 T - DEL WDR7 ENST00000254442 human ensembl 74_37 +1 known frame_shift_del c.2196 p.L734fs 1.000 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 156 0 0 115 33 22.2973 ZNF236 0 genome.wustl.edu 37 18 74593430 74593430 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 74593430 74593430 A - DEL ZNF236 ENST00000253159 human ensembl 74_37 +1 known frame_shift_del c.1373 p.M461fs 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 79 0 0 75 20 21.0526 RAB12 0 genome.wustl.edu 37 18 8636350 8636350 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 8636350 8636350 A - DEL RAB12 ENST00000329286 human ensembl 74_37 +1 known frame_shift_del c.616 p.K207fs 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,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 RAB12 HGNC ENSG00000206418 56 0 0 42 7 14.2857 ANKRD12 0 genome.wustl.edu 37 18 9256550 9256551 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 18 9256550 9256551 - A INS ANKRD12 ENST00000262126 human ensembl 74_37 +1 known frame_shift_ins c.3285_3286 p.H1097fs 0.999:1.000 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 207 0 0 179 12 6.28272 ZNF44 0 genome.wustl.edu 37 19 12384334 12384334 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 12384334 12384334 T - DEL ZNF44 ENST00000393337 human ensembl 74_37 -1 known frame_shift_del c.880 p.I294fs 0.098 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 ZNF44 HGNC ENSG00000197857 386 0 0 209 83 28.4247 RAD23A 0 genome.wustl.edu 37 19 13059096 13059096 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 13059096 13059096 C - DEL RAD23A ENST00000586534 human ensembl 74_37 +1 known frame_shift_del c.340 p.P115fs 0.002 tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC ENSG00000179262 37 0 0 43 8 15.6863 WIZ 0 genome.wustl.edu 37 19 15533942 15533942 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 15533942 15533942 G - DEL WIZ ENST00000389282 human ensembl 74_37 -1 known frame_shift_del c.4901 p.P1634fs 0.683 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 97 0 0 89 10 10.101 CIB3 0 genome.wustl.edu 37 19 16275653 16275654 + In_Frame_Ins INS - - CCC TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 16275653 16275654 - CCC INS CIB3 ENST00000269878 human ensembl 74_37 -1 known in_frame_ins c.418_417 p.139in_frame_insG 1.000:1.000 NULL pfscan_EF_hand_dom - no_errors CIB3 HGNC ENSG00000141977 120 0 0 82 10 10.8696 REXO1 0 genome.wustl.edu 37 19 1827647 1827647 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 1827647 1827647 T - DEL REXO1 ENST00000170168 human ensembl 74_37 -1 known frame_shift_del c.1141 p.T381fs 0.001 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 29 0 0 29 9 23.6842 ZNF506 0 genome.wustl.edu 37 19 19906351 19906351 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 19906351 19906351 T - DEL ZNF506 ENST00000443905 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.861 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 ZNF506 HGNC ENSG00000081665 180 0 0 133 39 22.6744 UBA2 0 genome.wustl.edu 37 19 34943022 34943022 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 34943022 34943022 G - DEL UBA2 ENST00000246548 human ensembl 74_37 +1 known frame_shift_del c.1008 p.D338fs 0.971 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 308 0 0 227 70 23.569 ZNF181 0 genome.wustl.edu 37 19 35231879 35231880 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 35231879 35231880 - A INS ZNF181 ENST00000392232 human ensembl 74_37 +1 known frame_shift_ins c.725_726 p.N244fs 0.002:0.085 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF181 HGNC ENSG00000197841 199 0 0 125 43 25.5952 ARHGAP33 0 genome.wustl.edu 37 19 36278096 36278096 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 36278096 36278096 C - DEL ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known frame_shift_del c.2629 p.P878fs 0.992 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 54 0 0 35 18 33.9623 PIP5K1C 0 genome.wustl.edu 37 19 3644115 3644115 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 3644115 3644115 C - DEL PIP5K1C ENST00000537021 human ensembl 74_37 -1 known frame_shift_del c.1480 p.A494fs 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 64 0 0 53 8 13.1148 ZNF780A 0 genome.wustl.edu 37 19 40581188 40581188 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 40581188 40581188 T - DEL ZNF780A ENST00000455521 human ensembl 74_37 -1 known frame_shift_del c.1164 p.K388fs 0.991 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 ZNF780A HGNC ENSG00000197782 348 0 0 268 96 26.3736 LTBP4 0 genome.wustl.edu 37 19 41132911 41132911 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 41132911 41132911 C - DEL LTBP4 ENST00000308370 human ensembl 74_37 +1 known frame_shift_del c.4215 p.A1408fs 0.764 superfamily_TB_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 21 0 0 22 6 21.4286 CIC 0 genome.wustl.edu 37 19 42794892 42794892 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 42794892 42794892 G - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.1972 p.A659fs 0.195 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 24 0 0 29 2 6.45161 CIC 0 genome.wustl.edu 37 19 42796883 42796883 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 42796883 42796883 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.3341 p.P1116fs 0.993 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 78 0 0 62 19 23.4568 ZNF428 0 genome.wustl.edu 37 19 44112175 44112180 + In_Frame_Del DEL TCCTCT TCCTCT - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 TCCTCT TCCTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 44112175 44112180 TCCTCT - DEL ZNF428 ENST00000300811 human ensembl 74_37 -1 known in_frame_del c.161_156 p.EE53in_frame_del 1.000:1.000:1.000:1.000:0.999:0.966 NULL pfscan_Znf_C2H2 - no_errors ZNF428 HGNC ENSG00000131116 62 0 0 58 13 18.3099 RTN2 0 genome.wustl.edu 37 19 45998164 45998165 + Frame_Shift_Ins INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 45998164 45998165 - G INS RTN2 ENST00000245923 human ensembl 74_37 -1 known frame_shift_ins c.179_178 p.R60fs 1.000:0.885 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 40 0 0 33 8 19.5122 TICAM1 0 genome.wustl.edu 37 19 4816465 4816465 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 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 15 0 0 23 6 20.6897 SIGLEC5 0 genome.wustl.edu 37 19 52131208 52131208 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 52131208 52131208 G - DEL SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known frame_shift_del c.876 p.I293fs 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 158 0 0 105 39 27.0833 EPN1 0 genome.wustl.edu 37 19 56203184 56203184 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 56203184 56203184 G - DEL EPN1 ENST00000411543 human ensembl 74_37 +1 known frame_shift_del c.1085 p.G364fs 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 96 0 0 97 12 11.0092 INSR 0 genome.wustl.edu 37 19 7117191 7117191 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 7117191 7117191 C - DEL INSR ENST00000302850 human ensembl 74_37 -1 known frame_shift_del c.4025 p.G1342fs 0.996 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 121 0 0 98 16 14.0351 FBN3 0 genome.wustl.edu 37 19 8196625 8196625 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 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 23 0 0 30 4 11.7647 MUC16 0 genome.wustl.edu 37 19 9059157 9059157 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 19 9059157 9059157 T - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.28289 p.N9430fs 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 184 0 0 144 49 25.3886 GCC2 0 genome.wustl.edu 37 2 109100689 109100689 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 109100689 109100689 A - DEL GCC2 ENST00000309863 human ensembl 74_37 +1 known frame_shift_del c.3535 p.N1180fs 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 82 0 0 96 7 6.79612 NEB 0 genome.wustl.edu 37 2 152520210 152520210 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 152520210 152520210 G - DEL NEB ENST00000397345 human ensembl 74_37 -1 known frame_shift_del c.5615 p.P1872fs 1.000 smart_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 87 0 0 75 17 18.4783 ERMN 0 genome.wustl.edu 37 2 158178061 158178062 + In_Frame_Ins INS - - ATC TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 158178061 158178062 - ATC INS ERMN ENST00000397283 human ensembl 74_37 -1 known in_frame_ins c.616_615 p.205in_frame_insD 0.261:0.346 NULL superfamily_Moesin_tail - no_errors ERMN HGNC ENSG00000136541 264 0 0 255 67 20.8075 PXDN 0 genome.wustl.edu 37 2 1652960 1652960 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 1652960 1652960 G - DEL PXDN ENST00000252804 human ensembl 74_37 -1 known frame_shift_del c.2592 p.N865fs 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 13 0 0 8 3 27.2727 DYNC1I2 0 genome.wustl.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 172549339 172549339 A - DEL DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known frame_shift_del c.161 p.R57fs 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 24 0 0 22 7 24.1379 TTN 0 genome.wustl.edu 37 2 179505993 179505993 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 179505993 179505993 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.32904 p.K10968fs 1.000 superfamily_Calpain_domain_III,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 18 0 0 8 4 33.3333 TTN 0 genome.wustl.edu 37 2 179616558 179616558 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 179616558 179616558 A - DEL TTN ENST00000360870 human ensembl 74_37 -1 known frame_shift_del c.10569 p.F3523fs 0.127 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 315 0 0 182 74 28.9062 DNAH7 0 genome.wustl.edu 37 2 196866535 196866535 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 196866535 196866535 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.1037 p.K346fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 135 0 0 123 29 19.0789 SLC11A1 0 genome.wustl.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 219252307 219252307 T - DEL SLC11A1 ENST00000233202 human ensembl 74_37 +1 known frame_shift_del c.591 p.F199fs 0.624 pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 768 0 0 547 169 23.6034 SPEG 0 genome.wustl.edu 37 2 220352920 220352920 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 220352920 220352920 C - DEL SPEG ENST00000312358 human ensembl 74_37 +1 novel frame_shift_del c.7746 p.P2584fs 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 SPEG HGNC ENSG00000072195 134 0 0 106 22 17.1875 TRIP12 0 genome.wustl.edu 37 2 230655860 230655860 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 230655860 230655860 T - DEL TRIP12 ENST00000283943 human ensembl 74_37 -1 known frame_shift_del c.4298 p.K1433fs 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 350 0 0 214 62 22.4638 HJURP 0 genome.wustl.edu 37 2 234750577 234750579 + In_Frame_Del DEL GAT GAT - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 234750577 234750579 GAT - DEL HJURP ENST00000411486 human ensembl 74_37 -1 known in_frame_del c.849_847 p.I283in_frame_del 1.000:0.998:0.974 pfam_HJURP pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 224 0 0 144 51 26.1538 NCOA1 0 genome.wustl.edu 37 2 24975018 24975020 + In_Frame_Del DEL AAC AAC - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 24975018 24975020 AAC - DEL NCOA1 ENST00000348332 human ensembl 74_37 +1 known in_frame_del c.3874_3876 p.N1294in_frame_del 0.999:0.999:1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 71 0 0 54 11 16.9231 KIF3C 0 genome.wustl.edu 37 2 26203791 26203791 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 26203791 26203791 C - DEL KIF3C ENST00000264712 human ensembl 74_37 -1 known frame_shift_del c.996 p.N333fs 0.009 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_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 KIF3C HGNC ENSG00000084731 89 0 0 94 6 6 TRAPPC12 0 genome.wustl.edu 37 2 3483008 3483009 + Frame_Shift_Del DEL GT GT - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 3483008 3483009 GT - DEL TRAPPC12 ENST00000324266 human ensembl 74_37 +1 known frame_shift_del c.1984_1985 p.C663fs 1.000:1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 123 0 0 114 32 21.9178 ATP6V1B1 0 genome.wustl.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 71191573 71191573 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 94 0 0 55 25 31.25 ANKRD20A8P 0 genome.wustl.edu 37 2 95483038 95483039 + RNA INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 95483038 95483039 - T INS ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.185:0.232 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 83 0 0 56 5 8.19672 FAHD2CP 0 genome.wustl.edu 37 2 96687157 96687157 + RNA DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 96687157 96687157 C - DEL FAHD2CP ENST00000443258 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAHD2CP HGNC ENSG00000231584 23 0 0 22 6 21.4286 MGAT4A 0 genome.wustl.edu 37 2 99261956 99261956 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 99261956 99261956 T - DEL MGAT4A ENST00000264968 human ensembl 74_37 -1 known frame_shift_del c.824 p.N275fs 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors MGAT4A HGNC ENSG00000071073 159 0 0 102 36 26.087 TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 38 0 0 24 9 27.2727 ISM1 0 genome.wustl.edu 37 20 13260475 13260475 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 13260475 13260475 C - DEL ISM1 ENST00000262487 human ensembl 74_37 +1 known frame_shift_del c.573 p.R194fs 1.000 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 90 0 0 76 14 15.5556 CSRP2BP 0 genome.wustl.edu 37 20 18163930 18163930 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 18163930 18163930 T - DEL CSRP2BP ENST00000435364 human ensembl 74_37 +1 known frame_shift_del c.1972 p.W660fs 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 179 0 0 148 36 19.5652 RALGAPB 0 genome.wustl.edu 37 20 37146233 37146233 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 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 177 0 0 128 40 23.8095 SLC35C2 0 genome.wustl.edu 37 20 44979495 44979501 + Frame_Shift_Del DEL AGCAGAT AGCAGAT - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AGCAGAT AGCAGAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 44979495 44979501 AGCAGAT - DEL SLC35C2 ENST00000543605 human ensembl 74_37 -1 known frame_shift_del c.959_953 p.H318fs 1.000:1.000:0.994:0.996:0.802:0.694:0.898 pfam_Tpt_PEP_trans_dom,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_UAA - no_errors SLC35C2 HGNC ENSG00000080189 111 0 0 85 12 12.3711 ZNF831 0 genome.wustl.edu 37 20 57769451 57769451 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 57769451 57769451 C - DEL ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_del c.3377 p.L1128fs 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 88 0 0 76 12 13.6364 PLCB1 0 genome.wustl.edu 37 20 8782772 8782772 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 20 8782772 8782772 C - DEL PLCB1 ENST00000378637 human ensembl 74_37 +1 known frame_shift_del c.3493 p.N1167fs 1.000 NULL pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 93 0 0 64 20 23.8095 NRIP1 0 genome.wustl.edu 37 21 16338330 16338330 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 16338330 16338330 T - DEL NRIP1 ENST00000318948 human ensembl 74_37 -1 known frame_shift_del c.2184 p.E729fs 0.998 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 171 0 0 139 37 21.0227 SIM2 0 genome.wustl.edu 37 21 38117346 38117346 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 21 38117346 38117346 C - DEL SIM2 ENST00000290399 human ensembl 74_37 +1 known frame_shift_del c.1485 p.L497fs 0.984 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM2 HGNC ENSG00000159263 72 0 0 59 9 13.2353 ZDHHC8P1 0 genome.wustl.edu 37 22 23742494 23742495 + RNA INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 23742494 23742495 - G INS ZDHHC8P1 ENST00000255890 human ensembl 74_37 -1 known rna NULL NULL 0.993:0.993 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 18 0 0 19 12 38.7097 LIF 0 genome.wustl.edu 37 22 30639806 30639808 + In_Frame_Del DEL AGG AGG - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 30639806 30639808 AGG - DEL LIF ENST00000249075 human ensembl 74_37 -1 known in_frame_del c.443_441 p.L148in_frame_del 1.000:1.000:1.000 pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF - no_errors LIF HGNC ENSG00000128342 92 0 0 104 25 19.3798 RTCB 0 genome.wustl.edu 37 22 32794005 32794006 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 32794005 32794006 - T INS RTCB ENST00000216038 human ensembl 74_37 -1 known frame_shift_ins c.737_736 p.M246fs 1.000:1.000 pfam_RtcB,superfamily_RtcB pfam_RtcB,superfamily_RtcB - no_errors RTCB HGNC ENSG00000100220 213 0 0 172 41 19.2488 PICK1 0 genome.wustl.edu 37 22 38471033 38471034 + In_Frame_Ins INS - - GGA TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 38471033 38471034 - GGA INS PICK1 ENST00000356976 human ensembl 74_37 +1 known in_frame_ins c.1142_1143 p.385in_frame_insE 0.976:0.071 NULL pfam_AH_dom,pfam_PDZ,pfam_BAR_dom,superfamily_PDZ,smart_PDZ,pfscan_AH_dom,pfscan_PDZ - no_errors PICK1 HGNC ENSG00000100151 35 0 0 50 4 7.40741 DDX17 0 genome.wustl.edu 37 22 38895455 38895455 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 38895455 38895455 C - DEL DDX17 ENST00000396821 human ensembl 74_37 -1 known frame_shift_del c.488 p.G163fs 0.996 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 157 0 0 144 15 9.43396 FAM83F 0 genome.wustl.edu 37 22 40417800 40417800 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 40417800 40417800 G - DEL FAM83F ENST00000333407 human ensembl 74_37 +1 known frame_shift_del c.1286 p.E431fs 0.181 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 41 0 0 36 10 21.7391 MKL1 0 genome.wustl.edu 37 22 40816542 40816542 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 40816542 40816542 G - DEL MKL1 ENST00000355630 human ensembl 74_37 -1 known frame_shift_del c.920 p.P307fs 0.025 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 99 0 0 92 22 19.2982 RRP7B 0 genome.wustl.edu 37 22 42973108 42973109 + RNA INS - - AG TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 42973108 42973109 - AG INS RRP7B ENST00000421116 human ensembl 74_37 -1 known rna NULL NULL 0.026:0.005 - - - no_errors RRP7B HGNC ENSG00000182841 66 0 0 78 5 6.0241 CELSR1 0 genome.wustl.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 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 40 0 0 32 7 17.9487 IL17REL 0 genome.wustl.edu 37 22 50437729 50437730 + Frame_Shift_Ins INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 22 50437729 50437730 - G INS IL17REL ENST00000341280 human ensembl 74_37 -1 known frame_shift_ins c.592_591 p.F197fs 0.996:0.996 NULL NULL - no_errors IL17REL HGNC ENSG00000188263 133 0 0 107 29 21.3235 MIR567 0 genome.wustl.edu 37 3 111831724 111831725 + RNA DEL AA AA - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 111831724 111831725 AA - DEL MIR567 ENST00000385205 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR567 HGNC ENSG00000207940 29 0 0 10 11 52.381 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 125 0 0 80 35 30.4348 PARP14 0 genome.wustl.edu 37 3 122433232 122433232 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 122433232 122433232 A - DEL PARP14 ENST00000474629 human ensembl 74_37 +1 known frame_shift_del c.3956 p.N1322fs 0.974 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 97 0 0 56 21 27.2727 SEMA5B 0 genome.wustl.edu 37 3 122631702 122631702 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 122631702 122631702 G - DEL SEMA5B ENST00000451055 human ensembl 74_37 -1 known frame_shift_del c.2875 p.Q959fs 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 121 0 0 88 26 22.807 CCDC37 0 genome.wustl.edu 37 3 126138594 126138595 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 126138594 126138595 - A INS CCDC37 ENST00000393425 human ensembl 74_37 +1 known frame_shift_ins c.849_850 p.A285fs 0.003:0.002 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 101 0 0 91 23 20.1754 ZXDC 0 genome.wustl.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 126178522 126178522 T - DEL ZXDC ENST00000389709 human ensembl 74_37 -1 known frame_shift_del c.2186 p.K729fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDC HGNC ENSG00000070476 765 0 0 545 141 20.5539 COL6A6 0 genome.wustl.edu 37 3 130380699 130380699 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 130380699 130380699 C - DEL COL6A6 ENST00000358511 human ensembl 74_37 +1 known frame_shift_del c.6049 p.D2019fs 0.819 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 65 0 0 65 7 9.72222 MRAS 0 genome.wustl.edu 37 3 138121034 138121035 + In_Frame_Ins INS - - AGA TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 138121034 138121035 - AGA INS MRAS ENST00000289104 human ensembl 74_37 +1 known in_frame_ins c.550_551 p.188in_frame_insK 1.000:1.000 superfamily_P-loop_NTPase,smart_Ran_GTPase 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 104 0 0 70 18 20.4545 ZBTB38 0 genome.wustl.edu 37 3 141164024 141164024 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 141164024 141164024 A - DEL ZBTB38 ENST00000321464 human ensembl 74_37 +1 known frame_shift_del c.2797 p.M935fs 0.570 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 41 0 0 39 9 18.75 GPR171 0 genome.wustl.edu 37 3 150917110 150917110 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 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 144 0 0 109 39 26.3514 MECOM 0 genome.wustl.edu 37 3 168861605 168861605 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 168861605 168861605 A - DEL MECOM ENST00000494292 human ensembl 74_37 -1 known frame_shift_del c.391 p.Y131fs 1.000 smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 300 0 0 221 85 27.7778 TNIK 0 genome.wustl.edu 37 3 170885050 170885050 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 170885050 170885050 T - DEL TNIK ENST00000436636 human ensembl 74_37 -1 known frame_shift_del c.783 p.K261fs 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 81 0 0 75 12 13.7931 KLHL6 0 genome.wustl.edu 37 3 183273148 183273148 + Splice_Site DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 183273148 183273148 C - DEL KLHL6 ENST00000341319 human ensembl 74_37 -1 known splice_site_del c.293+1 e1+1 1.000 - - - no_errors KLHL6 HGNC ENSG00000172578 140 0 0 93 26 21.8487 SATB1 0 genome.wustl.edu 37 3 18390730 18390730 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 18390730 18390730 A - DEL SATB1 ENST00000417717 human ensembl 74_37 -1 known frame_shift_del c.2320 p.S774fs 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 354 0 0 280 83 22.865 SGOL1 0 genome.wustl.edu 37 3 20212215 20212216 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 20212215 20212216 - T INS SGOL1 ENST00000263753 human ensembl 74_37 -1 known frame_shift_ins c.1565_1564 p.R522fs 0.001:0.037 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 78 0 0 61 18 22.7848 CDC25A 0 genome.wustl.edu 37 3 48200921 48200922 + Frame_Shift_Ins INS - - TC TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 48200921 48200922 - TC INS CDC25A ENST00000302506 human ensembl 74_37 -1 known frame_shift_ins c.1347_1346 p.D449fs 1.000:1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC ENSG00000164045 180 0 0 144 38 20.8791 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 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 51 0 0 46 11 19.2982 PBRM1 0 genome.wustl.edu 37 3 52613112 52613113 + Frame_Shift_Del DEL AC AC - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 52613112 52613113 AC - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.3491_3490 p.V1164fs 1.000:1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 180 0 0 121 39 24.375 IL17RB 0 genome.wustl.edu 37 3 53889347 53889347 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 53889347 53889347 A - DEL IL17RB ENST00000288167 human ensembl 74_37 +1 known frame_shift_del c.508 p.K172fs 0.036 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 69 0 0 69 13 15.8537 FLNB 0 genome.wustl.edu 37 3 58118574 58118575 + Frame_Shift_Ins INS - - CA TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 58118574 58118575 - CA INS FLNB ENST00000295956 human ensembl 74_37 +1 known frame_shift_ins c.4430_4431 p.T1481fs 1.000:1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 71 0 0 49 12 19.6721 ADAMTS9 0 genome.wustl.edu 37 3 64619547 64619547 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 64619547 64619547 T - DEL ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known frame_shift_del c.1865 p.N622fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 122 0 0 97 33 25.3846 ROBO2 0 genome.wustl.edu 37 3 77657037 77657038 + Frame_Shift_Ins INS - - C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 3 77657037 77657038 - C INS ROBO2 ENST00000461745 human ensembl 74_37 +1 known frame_shift_ins c.3225_3226 p.V1078fs 1.000:1.000 NULL 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 99 0 0 55 9 14.0625 SLC39A8 0 genome.wustl.edu 37 4 103189225 103189225 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 103189225 103189225 T - DEL SLC39A8 ENST00000356736 human ensembl 74_37 -1 known frame_shift_del c.852 p.E285fs 0.000 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 148 0 0 171 10 5.52486 ARSJ 0 genome.wustl.edu 37 4 114823494 114823494 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 114823494 114823494 T - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.1736 p.K579fs 0.628 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 85 0 0 77 31 28.7037 KIAA1109 0 genome.wustl.edu 37 4 123165029 123165029 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 123165029 123165029 A - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_del c.4763 p.K1590fs 0.999 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 137 0 0 95 30 24 HHIP 0 genome.wustl.edu 37 4 145567902 145567903 + Frame_Shift_Ins INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 145567902 145567903 - G INS HHIP ENST00000296575 human ensembl 74_37 +1 known frame_shift_ins c.75_76 p.E26fs 1.000:1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 116 0 0 78 17 17.8947 PRMT10 0 genome.wustl.edu 37 4 148589798 148589799 + Splice_Site INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 148589798 148589799 - A INS PRMT10 ENST00000322396 human ensembl 74_37 -1 known splice_site_ins c.847-3_847-2 e6-2 0.998:0.913 - - - no_errors PRMT10 HGNC ENSG00000164169 89 0 0 67 18 21.1765 RAPGEF2 0 genome.wustl.edu 37 4 160271311 160271311 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 160271311 160271311 A - DEL RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known frame_shift_del c.3252 p.I1087fs 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 95 0 0 73 10 12.0482 FAM92A1P2 0 genome.wustl.edu 37 4 183959379 183959379 + RNA DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 183959379 183959379 A - DEL FAM92A1P2 ENST00000502308 human ensembl 74_37 +1 known rna NULL NULL 0.413 - - - no_errors FAM92A1P2 HGNC ENSG00000230219 16 0 0 3 10 76.9231 SNX25 0 genome.wustl.edu 37 4 186267704 186267705 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 186267704 186267705 - A INS SNX25 ENST00000264694 human ensembl 74_37 +1 known frame_shift_ins c.1709_1710 p.V573fs 1.000:1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 160 0 0 105 36 25.5319 KLF3 0 genome.wustl.edu 37 4 38691476 38691476 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 38691476 38691476 C - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.671 p.P226fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 280 0 0 213 82 27.7966 NSUN7 0 genome.wustl.edu 37 4 40800843 40800843 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 40800843 40800843 T - DEL NSUN7 ENST00000381782 human ensembl 74_37 +1 known frame_shift_del c.1322 p.P443fs 1.000 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC ENSG00000179299 142 0 0 121 28 18.7919 IGFBP7 0 genome.wustl.edu 37 4 57907077 57907077 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 57907077 57907077 G - DEL IGFBP7 ENST00000295666 human ensembl 74_37 -1 known frame_shift_del c.498 p.K167fs 1.000 pfam_Ig_I-set,smart_Ig_sub,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_IGFBP-like,smart_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom - no_errors IGFBP7 HGNC ENSG00000163453 47 0 0 42 16 27.5862 SDAD1 0 genome.wustl.edu 37 4 76891521 76891521 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 4 76891521 76891521 T - DEL SDAD1 ENST00000356260 human ensembl 74_37 -1 known frame_shift_del c.824 p.K275fs 1.000 superfamily_ARM-type_fold pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 154 0 0 87 29 25 CEP120 0 genome.wustl.edu 37 5 122713213 122713213 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 122713213 122713213 T - DEL CEP120 ENST00000306467 human ensembl 74_37 -1 known frame_shift_del c.2213 p.K738fs 0.963 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 330 0 0 245 78 24.1486 ZCCHC10 0 genome.wustl.edu 37 5 132334371 132334372 + In_Frame_Ins INS - - GAG TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 132334371 132334372 - GAG INS ZCCHC10 ENST00000324170 human ensembl 74_37 -1 known in_frame_ins c.417_416 p.140in_frame_insS 0.178:0.983 NULL superfamily_Znf_CCHC - no_errors ZCCHC10 HGNC ENSG00000155329 83 0 0 89 13 12.7451 FSTL4 0 genome.wustl.edu 37 5 132534817 132534817 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 132534817 132534817 C - DEL FSTL4 ENST00000265342 human ensembl 74_37 -1 known frame_shift_del c.2499 p.T834fs 0.953 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 93 0 0 86 26 23.2143 TRIO 0 genome.wustl.edu 37 5 14477004 14477004 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 14477004 14477004 T - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.6085 p.L2031fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 80 0 0 57 19 25 GPR151 0 genome.wustl.edu 37 5 145894693 145894693 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 145894693 145894693 T - DEL GPR151 ENST00000311104 human ensembl 74_37 -1 known frame_shift_del c.984 p.K328fs 0.287 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 59 0 0 55 13 19.1176 SPDL1 0 genome.wustl.edu 37 5 169021159 169021161 + In_Frame_Del DEL AAG AAG - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 169021159 169021161 AAG - DEL SPDL1 ENST00000265295 human ensembl 74_37 +1 known in_frame_del c.542_544 p.E183in_frame_del 0.584:0.633:0.982 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 109 0 0 50 26 34.2105 STK10 0 genome.wustl.edu 37 5 171517345 171517345 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 171517345 171517345 T - DEL STK10 ENST00000176763 human ensembl 74_37 -1 known frame_shift_del c.1576 p.T526fs 1.000 NULL pfam_PKK,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 STK10 HGNC ENSG00000072786 378 0 0 347 22 5.96206 NSD1 0 genome.wustl.edu 37 5 176675269 176675269 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 176675269 176675269 A - DEL NSD1 ENST00000439151 human ensembl 74_37 +1 known frame_shift_del c.4585 p.M1531fs 1.000 superfamily_Znf_FYVE_PHD pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 39 0 0 23 11 32.3529 SPEF2 0 genome.wustl.edu 37 5 35705894 35705894 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 35705894 35705894 A - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.2649 p.K886fs 0.129 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 88 0 0 61 11 15.2778 IL7R 0 genome.wustl.edu 37 5 35874637 35874637 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 35874637 35874637 A - DEL IL7R ENST00000303115 human ensembl 74_37 +1 known frame_shift_del c.793 p.R267fs 0.967 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 273 0 0 183 58 24.0664 NIPBL 0 genome.wustl.edu 37 5 36985083 36985083 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 36985083 36985083 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.1801 p.K603fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 170 0 0 100 27 21.2598 PAPD7 0 genome.wustl.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 6755013 6755014 AC - DEL PAPD7 ENST00000230859 human ensembl 74_37 +1 known frame_shift_del c.1584_1585 p.T532fs 1.000:1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 47 0 0 27 7 20.5882 ZFYVE16 0 genome.wustl.edu 37 5 79733691 79733692 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 5 79733691 79733692 - T INS ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known frame_shift_ins c.1187_1188 p.L398fs 0.161:0.151 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 163 0 0 151 41 21.3542 GRIK2 0 genome.wustl.edu 37 6 102503432 102503432 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 102503432 102503432 A - DEL GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_del c.2539 p.N849fs 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 208 0 0 135 54 28.5714 REV3L 0 genome.wustl.edu 37 6 111695488 111695488 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 111695488 111695488 T - DEL REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_del c.4070 p.N1357fs 0.407 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 283 0 0 182 72 28.3465 COL10A1 0 genome.wustl.edu 37 6 116442752 116442752 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 116442752 116442752 T - DEL COL10A1 ENST00000243222 human ensembl 74_37 -1 known frame_shift_del c.527 p.K176fs 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 91 0 0 86 18 17.3077 L3MBTL3 0 genome.wustl.edu 37 6 130407306 130407306 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 130407306 130407306 A - DEL L3MBTL3 ENST00000361794 human ensembl 74_37 +1 known frame_shift_del c.1429 p.M479fs 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 291 0 0 235 64 21.4047 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 158508009 158508009 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.3331 p.P1113fs 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 55 0 0 39 12 23.5294 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 120 0 0 111 32 22.3776 NHLRC1 0 genome.wustl.edu 37 6 18122226 18122226 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 18122226 18122226 A - DEL NHLRC1 ENST00000340650 human ensembl 74_37 -1 known frame_shift_del c.612 p.F204fs 0.001 pfscan_NHL_repeat_subgr smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 81 0 0 49 17 25.7576 ZNF184 0 genome.wustl.edu 37 6 27420090 27420090 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 27420090 27420090 T - DEL ZNF184 ENST00000211936 human ensembl 74_37 -1 known frame_shift_del c.1248 p.K416fs 0.999 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 ZNF184 HGNC ENSG00000096654 252 0 0 153 51 25 ABCF1 0 genome.wustl.edu 37 6 30552301 30552302 + Frame_Shift_Del DEL AG AG - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 30552301 30552302 AG - DEL ABCF1 ENST00000326195 human ensembl 74_37 +1 known frame_shift_del c.1349_1350 p.K451fs 1.000:1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 113 0 0 93 16 14.6789 PPP1R10 0 genome.wustl.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 30570264 30570266 GGA - DEL PPP1R10 ENST00000376511 human ensembl 74_37 -1 known in_frame_del c.2162_2160 p.P721in_frame_del 0.990:0.999:0.997 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 74 0 0 74 12 13.9535 FANCE 0 genome.wustl.edu 37 6 35425714 35425715 + Frame_Shift_Ins INS - - C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 35425714 35425715 - C INS FANCE ENST00000229769 human ensembl 74_37 +1 known frame_shift_ins c.922_923 p.V311fs 0.000:0.000 pfam_Fanconi_anaemia_gr_E_prot_C pfam_Fanconi_anaemia_gr_E_prot_C - no_errors FANCE HGNC ENSG00000112039 117 0 0 73 10 12.0482 PRPF4B 0 genome.wustl.edu 37 6 4031881 4031881 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 4031881 4031881 A - DEL PRPF4B ENST00000337659 human ensembl 74_37 +1 known frame_shift_del c.130 p.K46fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 101 0 0 82 22 21.1538 PTK7 0 genome.wustl.edu 37 6 43114416 43114416 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 43114416 43114416 C - DEL PTK7 ENST00000230419 human ensembl 74_37 +1 known frame_shift_del c.2701 p.L902fs 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_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK7 HGNC ENSG00000112655 99 0 0 72 16 18.1818 DEFB113 0 genome.wustl.edu 37 6 49936566 49936566 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 49936566 49936566 T - DEL DEFB113 ENST00000398718 human ensembl 74_37 -1 known frame_shift_del c.73 p.T25fs 0.001 NULL NULL - no_errors DEFB113 HGNC ENSG00000214642 69 0 0 63 22 25.8824 PKHD1 0 genome.wustl.edu 37 6 51930836 51930836 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 51930836 51930836 C - DEL PKHD1 ENST00000371117 human ensembl 74_37 -1 known frame_shift_del c.818 p.G273fs 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 107 0 0 110 19 14.7287 RIMS1 0 genome.wustl.edu 37 6 72809676 72809678 + Splice_Site DEL AGG AGG - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 72809676 72809678 AGG - DEL RIMS1 ENST00000521978 human ensembl 74_37 +1 known splice_site_del c.460-2_460-1 e4-1 1.000:1.000:1.000 - - - no_errors RIMS1 HGNC ENSG00000079841 107 0 0 63 12 16 CD109 0 genome.wustl.edu 37 6 74492412 74492413 + Frame_Shift_Ins INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 74492412 74492413 - G INS CD109 ENST00000287097 human ensembl 74_37 +1 known frame_shift_ins c.2039_2040 p.S682fs 0.000:0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 281 0 0 190 65 25.4902 IBTK 0 genome.wustl.edu 37 6 82924026 82924027 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 82924026 82924027 - T INS IBTK ENST00000306270 human ensembl 74_37 -1 known frame_shift_ins c.2122_2121 p.G707fs 0.983:0.988 smart_BTB/POZ-like pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 233 0 0 151 49 24.5 DOPEY1 0 genome.wustl.edu 37 6 83877831 83877831 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 83877831 83877831 A - DEL DOPEY1 ENST00000349129 human ensembl 74_37 +1 known frame_shift_del c.7343 p.I2450fs 1.000 NULL pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 100 0 0 49 20 28.9855 HTR1E 0 genome.wustl.edu 37 6 87725557 87725557 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 6 87725557 87725557 C - DEL HTR1E ENST00000305344 human ensembl 74_37 +1 known frame_shift_del c.505 p.P170fs 0.948 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_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 141 0 0 114 19 14.2857 ZC3HAV1 0 genome.wustl.edu 37 7 138774379 138774379 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 138774379 138774379 A - DEL ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known frame_shift_del c.435 p.F145fs 0.053 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 113 0 0 114 36 24 CNTNAP2 0 genome.wustl.edu 37 7 146997372 146997373 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 146997372 146997373 - T INS CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known frame_shift_ins c.1488_1489 p.G498fs 1.000:1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 167 0 0 153 37 19.4737 TMEM184A 0 genome.wustl.edu 37 7 1594983 1594983 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 1594983 1594983 G - DEL TMEM184A ENST00000297477 human ensembl 74_37 -1 known frame_shift_del c.138 p.W47fs 0.083 NULL pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 38 0 0 38 7 15.5556 DNAH11 0 genome.wustl.edu 37 7 21939668 21939669 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 21939668 21939669 - A INS DNAH11 ENST00000328843 human ensembl 74_37 +1 known frame_shift_ins c.13254_13255 p.T4420fs 1.000:1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 48 0 0 51 39 43.3333 RAPGEF5 0 genome.wustl.edu 37 7 22197474 22197474 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 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 105 0 0 122 23 15.8621 ABCA13 0 genome.wustl.edu 37 7 48318519 48318519 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 48318519 48318519 A - DEL ABCA13 ENST00000435803 human ensembl 74_37 +1 known frame_shift_del c.7728 p.I2579fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 219 0 0 181 112 38.2253 NSUN5P1 0 genome.wustl.edu 37 7 75044876 75044877 + RNA INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 75044876 75044877 - T INS NSUN5P1 ENST00000393633 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors NSUN5P1 HGNC ENSG00000223705 41 0 0 52 14 21.2121 ABCB1 0 genome.wustl.edu 37 7 87178807 87178808 + Frame_Shift_Del DEL CT CT - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 87178807 87178808 CT - DEL ABCB1 ENST00000265724 human ensembl 74_37 -1 known frame_shift_del c.1582_1581 p.A529fs 1.000:1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 153 0 0 155 27 14.8352 DBF4 0 genome.wustl.edu 37 7 87507389 87507389 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 87507389 87507389 A - DEL DBF4 ENST00000265728 human ensembl 74_37 +1 known frame_shift_del c.68 p.N25fs 1.000 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 212 0 0 147 91 38.2353 AKAP9 0 genome.wustl.edu 37 7 91726097 91726097 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 91726097 91726097 A - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.9836 p.I3281fs 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 203 0 0 208 44 17.4603 GET4 0 genome.wustl.edu 37 7 927116 927116 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 927116 927116 C - DEL GET4 ENST00000265857 human ensembl 74_37 +1 known frame_shift_del c.426 p.R144fs 0.996 pfam_UPF0363 pfam_UPF0363 - no_errors GET4 HGNC ENSG00000239857 67 0 0 76 15 16.4835 CASD1 0 genome.wustl.edu 37 7 94185017 94185017 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 94185017 94185017 T - DEL CASD1 ENST00000297273 human ensembl 74_37 +1 known frame_shift_del c.2341 p.C783fs 0.986 NULL pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 203 0 0 206 50 19.5312 DYNC1I1 0 genome.wustl.edu 37 7 95614280 95614280 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 7 95614280 95614280 A - DEL DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known frame_shift_del c.785 p.D264fs 1.000 superfamily_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 174 0 0 177 83 31.9231 MSRA 0 genome.wustl.edu 37 8 10102690 10102692 + In_Frame_Del DEL AGG AGG - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 10102690 10102692 AGG - DEL MSRA ENST00000317173 human ensembl 74_37 +1 known in_frame_del c.288_290 p.G98in_frame_del 0.164:1.000:1.000 pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA - no_errors MSRA HGNC ENSG00000175806 201 0 0 189 34 15.2466 RGS22 0 genome.wustl.edu 37 8 101092489 101092490 + Frame_Shift_Ins INS - - T TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 101092489 101092490 - T INS RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_ins c.212_211 p.I71fs 1.000:0.999 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 168 0 0 148 39 20.8556 GRHL2 0 genome.wustl.edu 37 8 102589666 102589666 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 102589666 102589666 A - DEL GRHL2 ENST00000251808 human ensembl 74_37 +1 known frame_shift_del c.922 p.N309fs 1.000 pfam_CP2 pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 44 0 0 60 15 20 RIMS2 0 genome.wustl.edu 37 8 105235897 105235897 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 105235897 105235897 G - DEL RIMS2 ENST00000339750 human ensembl 74_37 +1 known frame_shift_del c.18 p.G8fs 0.013 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS2 HGNC ENSG00000176406 14 0 0 31 6 16.2162 CSMD3 0 genome.wustl.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 113241029 113241029 A - DEL CSMD3 ENST00000297405 human ensembl 74_37 -1 known frame_shift_del c.10920 p.F3640fs 1.000 NULL 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 145 0 0 138 29 17.3653 PARP10 0 genome.wustl.edu 37 8 145059434 145059434 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 145059434 145059434 G - DEL PARP10 ENST00000313028 human ensembl 74_37 -1 known frame_shift_del c.736 p.H246fs 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 40 0 0 39 11 22 DLGAP2 0 genome.wustl.edu 37 8 1497007 1497007 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 1497007 1497007 G - DEL DLGAP2 ENST00000421627 human ensembl 74_37 +1 known frame_shift_del c.148 p.R52fs 0.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 8 0 0 4 4 50 ASAH1 0 genome.wustl.edu 37 8 17921978 17921980 + In_Frame_Del DEL CTG CTG - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 17921978 17921980 CTG - DEL ASAH1 ENST00000381733 human ensembl 74_37 -1 known in_frame_del c.493_491 p.A164in_frame_del 1.000:0.998:1.000 pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors ASAH1 HGNC ENSG00000104763 58 0 0 53 8 13.1148 BMP1 0 genome.wustl.edu 37 8 22058651 22058651 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 22058651 22058651 C - DEL BMP1 ENST00000306349 human ensembl 74_37 +1 known frame_shift_del c.2128 p.P711fs 1.000 pirsf_BMP_1/tolloid-like pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 141 0 0 164 43 20.7729 CCAR2 0 genome.wustl.edu 37 8 22472975 22472975 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 22472975 22472975 C - DEL CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_del c.1243 p.R417fs 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 225 0 0 250 52 17.2185 BIN3 0 genome.wustl.edu 37 8 22487477 22487477 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 22487477 22487477 T - DEL BIN3 ENST00000276416 human ensembl 74_37 -1 known frame_shift_del c.338 p.K113fs 1.000 pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom - no_errors BIN3 HGNC ENSG00000147439 16 0 0 19 10 34.4828 DOCK5 0 genome.wustl.edu 37 8 25257429 25257429 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 25257429 25257429 T - DEL DOCK5 ENST00000276440 human ensembl 74_37 +1 known frame_shift_del c.4707 p.F1571fs 0.166 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 31 0 0 32 10 23.8095 KCTD9 0 genome.wustl.edu 37 8 25290078 25290078 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 25290078 25290078 T - DEL KCTD9 ENST00000221200 human ensembl 74_37 -1 known frame_shift_del c.995 p.N332fs 1.000 pfam_5peptide_repeat pfam_5peptide_repeat,pfam_T1-type_BTB,pfam_K_channel_plant,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD9 HGNC ENSG00000104756 272 0 0 312 47 13.0919 TRIM35 0 genome.wustl.edu 37 8 27145457 27145457 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 27145457 27145457 C - DEL TRIM35 ENST00000305364 human ensembl 74_37 -1 known frame_shift_del c.1092 p.L365fs 0.038 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 57 0 0 70 15 17.6471 IKBKB 0 genome.wustl.edu 37 8 42178341 42178342 + Frame_Shift_Ins INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 42178341 42178342 - G INS IKBKB ENST00000520810 human ensembl 74_37 +1 known frame_shift_ins c.1667_1668 p.T559fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 111 0 0 125 12 8.75912 POTEA 0 genome.wustl.edu 37 8 43216290 43216290 + RNA DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 43216290 43216290 A - DEL POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.061 - - - no_errors POTEA HGNC ENSG00000188877 20 0 0 7 4 36.3636 PRKDC 0 genome.wustl.edu 37 8 48701555 48701555 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 8 48701555 48701555 T - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.10811 p.N3604fs 0.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 96 0 0 98 32 24.6154 FKBP15 0 genome.wustl.edu 37 9 115941002 115941002 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 115941002 115941002 T - DEL FKBP15 ENST00000238256 human ensembl 74_37 -1 known frame_shift_del c.1994 p.K665fs 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 22 0 0 21 8 27.5862 RABGAP1 0 genome.wustl.edu 37 9 125861042 125861042 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 125861042 125861042 A - DEL RABGAP1 ENST00000373647 human ensembl 74_37 +1 known frame_shift_del c.2782 p.N930fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,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 RABGAP1 HGNC ENSG00000011454 113 0 0 103 30 22.5564 STXBP1 0 genome.wustl.edu 37 9 130453135 130453135 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 130453135 130453135 A - DEL STXBP1 ENST00000373299 human ensembl 74_37 +1 known frame_shift_del c.1784 p.*595fs 1.000 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 113 0 0 98 32 24.6154 GRIN1 0 genome.wustl.edu 37 9 140058231 140058231 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 140058231 140058231 G - DEL GRIN1 ENST00000371561 human ensembl 74_37 +1 known frame_shift_del c.2464 p.G823fs 0.998 pfam_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 74 0 0 72 28 28 C9orf173 0 genome.wustl.edu 37 9 140146299 140146300 + Frame_Shift_Ins INS - - C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 140146299 140146300 - C INS C9orf173 ENST00000388931 human ensembl 74_37 +1 known frame_shift_ins c.220_221 p.Q76fs 0.000:0.016 NULL NULL - no_errors C9orf173 HGNC ENSG00000197768 15 0 0 5 4 44.4444 NOL6 0 genome.wustl.edu 37 9 33466943 33466944 + Frame_Shift_Ins INS - - C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 33466943 33466944 - C INS NOL6 ENST00000297990 human ensembl 74_37 -1 known frame_shift_ins c.1917_1916 p.L641fs 0.869:0.991 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 510 0 0 410 117 22.2011 PTENP1 0 genome.wustl.edu 37 9 33675365 33675366 + RNA DEL AA AA - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 33675365 33675366 AA - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.998:0.998 - - - no_errors PTENP1 HGNC ENSG00000237984 57 0 0 45 13 22.4138 PIGO 0 genome.wustl.edu 37 9 35091522 35091523 + Frame_Shift_Ins INS - - G TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 35091522 35091523 - G INS PIGO ENST00000341666 human ensembl 74_37 -1 known frame_shift_ins c.2362_2361 p.T787fs 0.637:0.393 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 120 0 0 98 25 20.3252 GDA 0 genome.wustl.edu 37 9 74817634 74817636 + In_Frame_Del DEL AGA AGA - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 74817634 74817636 AGA - DEL GDA ENST00000238018 human ensembl 74_37 +1 known in_frame_del c.360_362 p.E122in_frame_del 0.943:0.997:1.000 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 384 0 0 323 75 18.8442 TMC1 0 genome.wustl.edu 37 9 75263574 75263574 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 75263574 75263574 A - DEL TMC1 ENST00000297784 human ensembl 74_37 +1 known frame_shift_del c.10 p.V6fs 1.000 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 228 0 0 184 39 17.4888 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 14 0 0 25 5 16.6667 FBP1 0 genome.wustl.edu 37 9 97380085 97380086 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 9 97380085 97380086 - A INS FBP1 ENST00000375326 human ensembl 74_37 -1 known frame_shift_ins c.391_390 p.V130fs 0.984:0.953 pfam_FBPase_class-1/SBPase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP1 HGNC ENSG00000165140 85 0 0 62 22 26.1905 TAF7L 0 genome.wustl.edu 37 X 100536709 100536709 + Frame_Shift_Del DEL T T - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 100536709 100536709 T - DEL TAF7L ENST00000372907 human ensembl 74_37 -1 known frame_shift_del c.719 p.K240fs 1.000 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 340 0 0 164 73 30.8017 RHOXF2 0 genome.wustl.edu 37 X 119293217 119293217 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 119293217 119293217 G - DEL RHOXF2 ENST00000371388 human ensembl 74_37 +1 known frame_shift_del c.376 p.L128fs 0.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors RHOXF2 HGNC ENSG00000131721 51 0 0 35 7 16.6667 FRMD7 0 genome.wustl.edu 37 X 131212732 131212733 + Frame_Shift_Ins INS - - A TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 131212732 131212733 - A INS FRMD7 ENST00000298542 human ensembl 74_37 -1 known frame_shift_ins c.1313_1312 p.S438fs 0.308:0.399 NULL pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD7 HGNC ENSG00000165694 602 0 0 240 148 38.1443 MXRA5 0 genome.wustl.edu 37 X 3241263 3241263 + Frame_Shift_Del DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 3241263 3241263 A - DEL MXRA5 ENST00000217939 human ensembl 74_37 -1 known frame_shift_del c.2463 p.P822fs 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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 MXRA5 HGNC ENSG00000101825 242 0 0 133 59 30.7292 TMEM47 0 genome.wustl.edu 37 X 34648479 34648479 + Frame_Shift_Del DEL C C - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 34648479 34648479 C - DEL TMEM47 ENST00000275954 human ensembl 74_37 -1 known frame_shift_del c.497 p.G166fs 1.000 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM47 HGNC ENSG00000147027 183 0 0 68 37 35.2381 FOXO4 0 genome.wustl.edu 37 X 70321277 70321277 + Frame_Shift_Del DEL G G - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 70321277 70321277 G - DEL FOXO4 ENST00000374259 human ensembl 74_37 +1 known frame_shift_del c.1197 p.L402fs 0.794 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 64 0 0 42 19 31.1475 XIST 0 genome.wustl.edu 37 X 73071846 73071846 + RNA DEL A A - TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 73071846 73071846 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 55 0 0 21 8 27.5862 FAM46D 0 genome.wustl.edu 37 X 79699145 79699146 + Frame_Shift_Ins INS - - C TCGA-CG-5733-01A-11D-1600-08 TCGA-CG-5733-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76014e30-76ae-45ca-8755-e51d80d6dc83 616936ac-232f-471b-ba28-d7efdde4ce51 X 79699145 79699146 - C INS FAM46D ENST00000308293 human ensembl 74_37 +1 known frame_shift_ins c.1107_1108 p.V371fs 0.339:0.734 NULL pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 79 0 0 55 8 12.6984