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 ADAM29 0 genome.wustl.edu 37 4 175897786 175897786 + Silent SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 175897786 175897786 T C SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known silent c.1110 p.S370 0.286 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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 ADAM29 HGNC ENSG00000168594 tier1 - - 178 0 0.00 76 73 48.99 ADAMTS8 0 genome.wustl.edu 37 11 130286907 130286907 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 130286907 130286907 C T SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.1024 p.D342N 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 tier1 - - 152 0 0.00 52 36 40.45 ADAMTSL3 0 genome.wustl.edu 37 15 84651619 84651619 + Missense_Mutation SNP T T A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 15 84651619 84651619 T A SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.3239 p.F1080Y 0.128 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 tier1 - - 84 0 0.00 39 17 30.36 AGBL1 0 genome.wustl.edu 37 15 86800174 86800174 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 15 86800174 86800174 G A SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.688 p.V230I 0.961 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 53 0 0.00 14 16 53.33 ALDH1B1 0 genome.wustl.edu 37 9 38397201 38397201 + Frame_Shift_Del DEL A A - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 38397201 38397201 A - DEL ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known frame_shift_del c.1456 p.K486fs 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 tier1 48 0 0.00 14 2 12.50 ALOX5 0 genome.wustl.edu 37 10 45878099 45878099 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 10 45878099 45878099 G A SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known missense c.319 p.D107N 0.999 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 tier1 - - 31 0 0.00 13 4 23.53 ANGPT1 0 genome.wustl.edu 37 8 108315466 108315467 + Splice_Site INS - - C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 108315466 108315467 - C INS ANGPT1 ENST00000517746 human ensembl 74_37 -1 known splice_site_ins c.936+1_936+1 e5+1 1.000:1.000 - - - no_errors ANGPT1 HGNC ENSG00000154188 tier1 66 0 0.00 41 18 30.51 ANGPT1 0 genome.wustl.edu 37 8 108315469 108315469 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 108315469 108315469 T G SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.935 p.K312T 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 tier1 - - 71 0 0.00 40 20 32.26 ANO3 0 genome.wustl.edu 37 11 26656592 26656592 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 26656592 26656592 T G SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.2018 p.L673R 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 tier1 - - 111 0 0.00 44 18 29.03 AR 0 genome.wustl.edu 37 X 66941783 66941783 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 66941783 66941783 A C SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.2427 p.K809N 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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 tier1 - - 51 0 0.00 7 20 74.07 ASTN1 0 genome.wustl.edu 37 1 177001858 177001858 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 177001858 177001858 T C SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.599 p.E200G 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 63 0 0.00 25 18 41.86 ASXL1 0 genome.wustl.edu 37 20 31019407 31019407 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 20 31019407 31019407 C T SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.904 p.R302C 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 86 0 0.00 30 17 36.17 ATP13A5 0 genome.wustl.edu 37 3 193042674 193042674 + Silent SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 3 193042674 193042674 T C SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known silent c.1653 p.K551 0.997 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 tier1 - - 354 0 0.00 88 116 56.86 AVPR2 0 genome.wustl.edu 37 X 153170624 153170624 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 153170624 153170624 G A SNP AVPR2 ENST00000337474 human ensembl 74_37 +1 known missense c.25 p.A9T 0.232 prints_Vprsn_rcpt_V2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 tier1 - - 86 0 0.00 3 28 90.32 BAGE2 0 genome.wustl.edu 37 21 11047501 11047501 + RNA SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 21 11047501 11047501 T G SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC ENSG00000187172 tier1 - - 408 0 0.00 208 21 9.17 BAI3 0 genome.wustl.edu 37 6 69759213 69759213 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 69759213 69759213 T G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2308 p.L770V 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 199 0 0.00 77 52 40.31 BCL11A 0 genome.wustl.edu 37 2 60688785 60688785 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 60688785 60688785 T C SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1262 p.K421R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 tier1 - - 120 0 0.00 68 34 33.01 BRD1 0 genome.wustl.edu 37 22 50187718 50187718 + Frame_Shift_Del DEL C C - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 22 50187718 50187718 C - DEL BRD1 ENST00000216267 human ensembl 74_37 -1 known frame_shift_del c.2323 p.D775fs 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 tier1 61 0 0.00 13 2 13.33 C12orf43 0 genome.wustl.edu 37 12 121448813 121448813 + Splice_Site SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 12 121448813 121448813 C T SNP C12orf43 ENST00000539088 human ensembl 74_37 -1 known splice_site c.180+1 e2+1 0.000 - - - no_errors C12orf43 HGNC ENSG00000157895 tier1 - - 79 0 0.00 11 24 68.57 C16orf71 0 genome.wustl.edu 37 16 4790603 4790603 + Silent SNP C C A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 16 4790603 4790603 C A SNP C16orf71 ENST00000299320 human ensembl 74_37 +1 known silent c.726 p.P242 0.001 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 tier1 - - 51 0 0.00 22 11 33.33 C1orf173 0 genome.wustl.edu 37 1 75038277 75038277 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 75038277 75038277 T G SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.3117 p.E1039D 0.003 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 239 0 0.00 74 43 36.75 C1orf94 0 genome.wustl.edu 37 1 34663068 34663068 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 34663068 34663068 A C SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known missense c.563 p.K188T 1.000 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 tier1 - - 83 0 0.00 31 12 27.91 C8A 0 genome.wustl.edu 37 1 57347303 57347303 + Missense_Mutation SNP T T A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 57347303 57347303 T A SNP C8A ENST00000361249 human ensembl 74_37 +1 known missense c.650 p.F217Y 1.000 NULL pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8A HGNC ENSG00000157131 tier1 - - 107 0 0.00 37 18 32.73 CCDC102B 0 genome.wustl.edu 37 18 66721373 66721373 + Frame_Shift_Del DEL A A - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 18 66721373 66721373 A - DEL CCDC102B ENST00000319445 human ensembl 74_37 +1 known frame_shift_del c.1541 p.*514fs 0.967 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 tier1 130 0 0.00 25 30 54.55 CCDC102B 0 genome.wustl.edu 37 18 66721374 66721374 + Nonstop_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 18 66721374 66721374 A C SNP CCDC102B ENST00000319445 human ensembl 74_37 +1 known nonstop c.1542 p.*514Y 0.970 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 tier1 - - 131 0 0.00 50 5 9.09 CCDC135 0 genome.wustl.edu 37 16 57752258 57752258 + Splice_Site SNP G G T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 16 57752258 57752258 G T SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known splice_site c.1078-1 e7-1 1.000 - - - no_errors CCDC135 HGNC ENSG00000159625 tier1 - - 126 0 0.00 57 30 34.48 CCDC148 0 genome.wustl.edu 37 2 159077216 159077217 + Frame_Shift_Ins INS - - T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 159077216 159077217 - T INS CCDC148 ENST00000283233 human ensembl 74_37 -1 known frame_shift_ins c.1261_1260 p.Y420fs 1.000:1.000 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 tier1 61 0 0.00 29 15 34.09 CCNA1 0 genome.wustl.edu 37 13 37007269 37007269 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 37007269 37007269 A C SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known missense c.208 p.T70P 0.617 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 CCNA1 HGNC ENSG00000133101 tier1 - - 45 0 0.00 13 8 38.10 CD1A 0 genome.wustl.edu 37 1 158225038 158225038 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 158225038 158225038 T G SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.223 p.F75V 0.335 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 tier1 - - 82 0 0.00 44 55 55.56 CD1E 0 genome.wustl.edu 37 1 158325192 158325192 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 158325192 158325192 T C SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.458 p.I153T 0.468 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 tier1 - - 158 0 0.00 64 64 50.00 CD99L2 0 genome.wustl.edu 37 X 149945928 149945928 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 149945928 149945928 T C SNP CD99L2 ENST00000370377 human ensembl 74_37 -1 known missense c.524 p.D175G 0.032 pfam_CD99L2 pfam_CD99L2 - no_errors CD99L2 HGNC ENSG00000102181 tier1 - - 58 0 0.00 2 32 94.12 CDC20 0 genome.wustl.edu 37 1 43824929 43824929 + Nonsense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 43824929 43824929 C T SNP CDC20 ENST00000310955 human ensembl 74_37 +1 known nonsense c.43 p.Q15* 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 tier1 - - 116 0 0.00 30 27 47.37 CDH2 0 genome.wustl.edu 37 18 25593870 25593870 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 18 25593870 25593870 T G SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.176 p.K59T 0.869 pfam_Cadherin_pro_dom,superfamily_Cadherin-like 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 tier1 - - 65 0 0.00 10 25 71.43 CDH8 0 genome.wustl.edu 37 16 61851463 61851463 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 16 61851463 61851463 T G SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.1197 p.E399D 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 97 0 0.00 46 42 47.73 CDKN2A 0 genome.wustl.edu 37 9 21974780 21974780 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 21974780 21974780 A C SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.47 p.L16R 0.068 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 42 0 0.00 5 9 64.29 CHD1 0 genome.wustl.edu 37 5 98223914 98223914 + Missense_Mutation SNP G G T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 5 98223914 98223914 G T SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.2374 p.L792I 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 tier1 - - 77 0 0.00 31 12 27.91 CHERP 0 genome.wustl.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 16640581 16640583 TGC - DEL CHERP ENST00000546361 human ensembl 74_37 -1 known in_frame_del c.1007_1005 p.Q339in_frame_del 1.000:1.000:1.000 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 tier1 51 0 0.00 18 2 10.00 CLMP 0 genome.wustl.edu 37 11 122955249 122955249 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 122955249 122955249 A C SNP CLMP ENST00000448775 human ensembl 74_37 -1 known missense c.359 p.V120G 0.998 pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD47_Vset,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD47_Vset,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CLMP HGNC ENSG00000166250 tier1 - - 91 0 0.00 23 21 47.73 CLOCK 0 genome.wustl.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 56304530 56304532 CTG - DEL CLOCK ENST00000309964 human ensembl 74_37 -1 known in_frame_del c.2280_2278 p.Q760in_frame_del 0.944:0.945:1.000 NULL 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,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 tier1 76 0 0.00 38 4 9.52 CNR1 0 genome.wustl.edu 37 6 88854841 88854841 + Silent SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 88854841 88854841 A C SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known silent c.153 p.T51 0.894 pirsf_Canbinoid_rcpt_1,prints_Canbinoid_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 tier1 - - 88 0 0.00 36 20 35.71 CNTLN 0 genome.wustl.edu 37 9 17330742 17330742 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 17330742 17330742 A C SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.1454 p.N485T 0.400 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 187 0 0.00 17 37 68.52 CNTLN 0 genome.wustl.edu 37 9 17466793 17466793 + Silent SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 17466793 17466793 A G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known silent c.3759 p.Q1253 0.636 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 103 0 0.00 9 39 81.25 COL24A1 0 genome.wustl.edu 37 1 86590793 86590793 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 86590793 86590793 T G SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.1226 p.K409T 0.980 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 106 0 0.00 32 38 54.29 COL8A1 0 genome.wustl.edu 37 3 99514931 99514931 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 3 99514931 99514931 G A SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known missense c.2186 p.G729E 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 tier1 - - 69 0 0.00 12 15 55.56 CPXCR1 0 genome.wustl.edu 37 X 88008469 88008469 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 88008469 88008469 T G SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known missense c.54 p.N18K 0.082 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 tier1 - - 17 0 0.00 6 11 64.71 CREBBP 0 genome.wustl.edu 37 16 3900421 3900421 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 16 3900421 3900421 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known silent c.675 p.P225 0.547 NULL 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 tier1 rs140708841 - 79 0 0.00 39 12 23.53 CSMD1 0 genome.wustl.edu 37 8 3253866 3253866 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 3253866 3253866 T C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2446 p.R816G 0.001 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 18 0 0.00 8 4 33.33 CSMD3 0 genome.wustl.edu 37 8 113347666 113347666 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 113347666 113347666 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.7057 p.F2353V 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 76 0 0.00 30 30 50.00 CTNNA3 0 genome.wustl.edu 37 10 67726416 67726416 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 10 67726416 67726416 A C SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.2354 p.V785G 0.995 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 tier1 - - 107 0 0.00 32 27 45.76 CTNND1 0 genome.wustl.edu 37 11 57575764 57575764 + Silent SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 57575764 57575764 G A SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known silent c.2091 p.T697 0.935 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 - - 78 0 0.00 39 8 17.02 CUX2 0 genome.wustl.edu 37 12 111652028 111652028 + Missense_Mutation SNP G G C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 12 111652028 111652028 G C SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.88 p.E30Q 0.994 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 tier1 - - 127 0 0.00 15 42 73.68 DCC 0 genome.wustl.edu 37 18 50866130 50866130 + Missense_Mutation SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 18 50866130 50866130 A G SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.2212 p.T738A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 155 0 0.00 17 48 73.85 DCHS2 0 genome.wustl.edu 37 4 155180831 155180831 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 155180831 155180831 T G SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.5290 p.S1764R 0.560 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 106 0 0.00 49 22 30.56 DCHS2 0 genome.wustl.edu 37 4 155254023 155254023 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 155254023 155254023 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1840 p.P614S 0.009 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 61 0 0.00 23 24 50.00 DCHS2 0 genome.wustl.edu 37 4 155254615 155254615 + Silent SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 155254615 155254615 A G SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.1248 p.S416 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 41 0 0.00 15 11 42.31 DCLK1 0 genome.wustl.edu 37 13 36385071 36385071 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 36385071 36385071 T G SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.1589 p.K530T 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 tier1 - - 179 0 0.00 64 53 45.30 DCLK1 0 genome.wustl.edu 37 13 36521572 36521572 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 36521572 36521572 A C SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.746 p.F249C 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_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 tier1 - - 60 0 0.00 10 23 69.70 DCSTAMP 0 genome.wustl.edu 37 8 105367380 105367380 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 105367380 105367380 A C SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.1305 p.E435D 0.000 superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 tier1 - - 103 0 0.00 55 45 45.00 DDX60L 0 genome.wustl.edu 37 4 169344916 169344916 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 169344916 169344916 G A SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known missense c.1940 p.S647L 0.270 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 - no_errors DDX60L HGNC ENSG00000181381 tier1 - - 28 0 0.00 9 6 40.00 DIDO1 0 genome.wustl.edu 37 20 61537401 61537402 + Frame_Shift_Ins INS - - T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 20 61537401 61537402 - T INS DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_ins c.1426_1425 p.E475fs 1.000:0.986 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 160 0 0.00 68 14 17.07 DNAAF1 0 genome.wustl.edu 37 16 84182639 84182639 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 16 84182639 84182639 T C SNP DNAAF1 ENST00000378553 human ensembl 74_37 +1 known missense c.152 p.V51A 0.000 NULL NULL - no_errors DNAAF1 HGNC ENSG00000154099 tier1 - - 87 0 0.00 40 22 35.48 DNAAF1 0 genome.wustl.edu 37 16 84193342 84193342 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 16 84193342 84193342 C T SNP DNAAF1 ENST00000378553 human ensembl 74_37 +1 known silent c.804 p.V268 0.998 NULL NULL - no_errors DNAAF1 HGNC ENSG00000154099 tier1 - - 61 0 0.00 28 10 26.32 DNAH10 0 genome.wustl.edu 37 12 124403316 124403316 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 12 124403316 124403316 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.10972 p.L3658 1.000 NULL 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 tier1 - - 44 0 0.00 3 15 83.33 DNAH11 0 genome.wustl.edu 37 7 21721205 21721205 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 7 21721205 21721205 A C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.5385 p.E1795D 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 56 0 0.00 45 22 32.84 DNAH8 0 genome.wustl.edu 37 6 38867568 38867568 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 38867568 38867568 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.8429 p.R2810Q 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 85 0 0.00 29 18 38.30 DPAGT1 0 genome.wustl.edu 37 11 118968667 118968667 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 118968667 118968667 C T SNP DPAGT1 ENST00000354202 human ensembl 74_37 -1 known missense c.815 p.S272N 1.000 NULL pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 tier1 - - 121 0 0.00 42 25 37.31 DPP10 0 genome.wustl.edu 37 2 116548879 116548879 + Missense_Mutation SNP G G T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 116548879 116548879 G T SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1659 p.L553F 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 346 0 0.00 126 55 30.39 DST 0 genome.wustl.edu 37 6 56437652 56437652 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 56437652 56437652 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.13354 p.E4452K 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 33 0 0.00 15 13 46.43 DYNC2H1 0 genome.wustl.edu 37 11 103039508 103039508 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 103039508 103039508 T G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.4787 p.L1596R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 93 0 0.00 36 13 26.53 EBF1 0 genome.wustl.edu 37 5 158141188 158141188 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 5 158141188 158141188 T G SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.1128 p.E376D 1.000 superfamily_bHLH_dom pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 tier1 - - 200 0 0.00 83 28 25.23 EML1 0 genome.wustl.edu 37 14 100361038 100361038 + Missense_Mutation SNP C C A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 14 100361038 100361038 C A SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.677 p.S226Y 0.881 pfam_HELP pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 tier1 - - 83 0 0.00 35 21 37.50 ENTPD2 0 genome.wustl.edu 37 9 139944978 139944978 + Frame_Shift_Del DEL G G - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 139944978 139944978 G - DEL ENTPD2 ENST00000355097 human ensembl 74_37 -1 known frame_shift_del c.787 p.H263fs 0.987 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 tier1 50 0 0.00 13 2 13.33 EPB41L3 0 genome.wustl.edu 37 18 5394733 5394733 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 18 5394733 5394733 T G SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.3213 p.K1071N 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 208 0 0.00 27 52 65.82 EPB41L3 0 genome.wustl.edu 37 18 5434011 5434011 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 18 5434011 5434011 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.715 p.D239N 1.000 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 182 0 0.00 16 61 79.22 ERBB4 0 genome.wustl.edu 37 2 212248596 212248596 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 212248596 212248596 T G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3671 p.N1224T 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 215 0 0.00 80 40 33.33 EYS 0 genome.wustl.edu 37 6 66200494 66200494 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 66200494 66200494 T G SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.855 p.Q285H 0.000 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 41 0 0.00 21 7 25.00 FAM63B 0 genome.wustl.edu 37 15 59063682 59063682 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 15 59063682 59063682 C T SNP FAM63B ENST00000559228 human ensembl 74_37 +1 known silent c.88 p.L30 0.001 NULL pfam_DUF544 - no_errors FAM63B HGNC ENSG00000128923 tier1 - - 61 0 0.00 23 5 17.86 FAM65C 0 genome.wustl.edu 37 20 49203764 49203765 + RNA INS - - T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 20 49203764 49203765 - T INS FAM65C ENST00000462842 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.005 - - - no_errors FAM65C HGNC ENSG00000042062 tier1 84 0 0.00 28 21 42.86 FASN 0 genome.wustl.edu 37 17 80041194 80041194 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 17 80041194 80041194 C T SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.5449 p.G1817S 1.000 smart_PKS_ER pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 79 0 0.00 43 4 8.51 FAT3 0 genome.wustl.edu 37 11 92533395 92533395 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 92533395 92533395 T G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7216 p.L2406V 0.882 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 206 0 0.00 61 35 36.46 FAT4 0 genome.wustl.edu 37 4 126372220 126372220 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 126372220 126372220 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10049 p.K3350T 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 187 0 0.00 64 29 31.18 FAT4 0 genome.wustl.edu 37 4 126384743 126384743 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 126384743 126384743 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.11820 p.N3940K 1.000 smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 23 0 0.00 6 6 50.00 FBXO24 0 genome.wustl.edu 37 7 100193300 100193300 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 7 100193300 100193300 G A SNP FBXO24 ENST00000427939 human ensembl 74_37 +1 known missense c.1291 p.D431N 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens 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 tier1 - - 92 0 0.00 42 26 38.24 FMN2 0 genome.wustl.edu 37 1 240492410 240492410 + Missense_Mutation SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 240492410 240492410 A G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4250 p.K1417R 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 110 0 0.00 43 19 30.65 FSD2 0 genome.wustl.edu 37 15 83455922 83455922 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 15 83455922 83455922 A C SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known missense c.221 p.L74R 0.038 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 tier1 - - 200 0 0.00 97 37 27.61 FSHR 0 genome.wustl.edu 37 2 49191063 49191063 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 49191063 49191063 T G SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.897 p.Q299H 1.000 pfam_GnHR_TM,prints_FSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 tier1 - - 296 0 0.00 98 85 46.45 GINS1 0 genome.wustl.edu 37 20 25398808 25398808 + Nonsense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 20 25398808 25398808 C T SNP GINS1 ENST00000262460 human ensembl 74_37 +1 known nonsense c.307 p.R103* 0.774 NULL NULL - no_errors GINS1 HGNC ENSG00000101003 tier1 - - 92 0 0.00 47 21 30.88 GLRB 0 genome.wustl.edu 37 4 158041763 158041763 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 158041763 158041763 T G SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.178 p.L60V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_B,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 tier1 - - 121 0 0.00 38 33 46.48 GOLIM4 0 genome.wustl.edu 37 3 167750505 167750505 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 3 167750505 167750505 G A SNP GOLIM4 ENST00000470487 human ensembl 74_37 -1 known missense c.979 p.R327C 0.000 NULL NULL - no_errors GOLIM4 HGNC ENSG00000173905 tier1 - - 80 0 0.00 33 39 54.17 GPC6 0 genome.wustl.edu 37 13 95055341 95055341 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 95055341 95055341 T C SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.1538 p.V513A 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 72 0 0.00 35 35 50.00 GRM1 0 genome.wustl.edu 37 6 146480720 146480720 + Missense_Mutation SNP T T A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 146480720 146480720 T A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.937 p.S313T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 44 0 0.00 18 15 44.12 GRM3 0 genome.wustl.edu 37 7 86394541 86394541 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 7 86394541 86394541 A C SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.80 p.N27T 1.000 prints_GPCR_3_mtglu_rcpt_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,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 147 0 0.00 79 46 36.80 GRM6 0 genome.wustl.edu 37 5 178410177 178410177 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 5 178410177 178410177 C T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.2170 p.V724M 0.940 pfam_GPCR_3_C,pfscan_GPCR_3_C 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,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 tier1 rs151103990 - 84 0 0.00 18 11 37.93 GTF3C4 0 genome.wustl.edu 37 9 135546200 135546200 + Nonsense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 135546200 135546200 G A SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known nonsense c.215 p.W72* 1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 tier1 - - 16 0 0.00 4 5 55.56 HFM1 0 genome.wustl.edu 37 1 91817108 91817108 + Silent SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 91817108 91817108 G A SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known silent c.2070 p.S690 1.000 pfscan_Helicase_C pfam_Sec63-dom,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,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 tier1 - - 130 0 0.00 45 24 34.78 HIVEP1 0 genome.wustl.edu 37 6 12122176 12122176 + Silent SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 12122176 12122176 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known silent c.2148 p.T716 0.007 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 tier1 - - 63 0 0.00 15 12 44.44 HRNR 0 genome.wustl.edu 37 1 152191994 152191994 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 152191994 152191994 T G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.2111 p.K704T 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 398 0 0.00 256 126 32.98 HYAL2 0 genome.wustl.edu 37 3 50357676 50357676 + Frame_Shift_Del DEL C C - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 3 50357676 50357676 C - DEL HYAL2 ENST00000357750 human ensembl 74_37 -1 known frame_shift_del c.245 p.R82fs 0.996 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 tier1 63 0 0.00 17 2 10.53 IAPP 0 genome.wustl.edu 37 12 21526294 21526294 + Missense_Mutation SNP C C G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 12 21526294 21526294 C G SNP IAPP ENST00000240652 human ensembl 74_37 +1 known missense c.9 p.I3M 0.000 prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep - no_errors IAPP HGNC ENSG00000121351 tier1 - - 108 0 0.00 157 10 5.95 IAPP 0 genome.wustl.edu 37 12 21526343 21526343 + Missense_Mutation SNP C C A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 12 21526343 21526343 C A SNP IAPP ENST00000240652 human ensembl 74_37 +1 known missense c.58 p.L20M 0.459 prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep - no_errors IAPP HGNC ENSG00000121351 tier1 - - 139 0 0.00 186 10 5.10 IAPP 0 genome.wustl.edu 37 12 21526313 21526313 + Frame_Shift_Del DEL C C - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 12 21526313 21526313 C 0 DEL IAPP ENST00000240652 human ensembl 74_37 +1 known frame_shift_del c.28 p.L10fs 0.004 prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep - no_errors IAPP HGNC ENSG00000121351 137 0 0.00 174 10 5.43 IAPP 0 genome.wustl.edu 37 12 21526326 21526326 + Missense_Mutation SNP C C A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 12 21526326 21526326 C A SNP IAPP ENST00000240652 human ensembl 74_37 +1 known missense c.41 p.S14Y 0.568 prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep - no_errors IAPP HGNC ENSG00000121351 138 0 0.00 183 11 5.67 IL12A 0 genome.wustl.edu 37 3 159713299 159713299 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 3 159713299 159713299 C T SNP IL12A ENST00000305579 human ensembl 74_37 +1 known missense c.715 p.R239W 0.533 pfam_IL-12_alpha,superfamily_4_helix_cytokine-like_core pfam_IL-12_alpha,superfamily_4_helix_cytokine-like_core - no_errors IL12A HGNC ENSG00000168811 tier1 - - 181 0 0.00 41 42 50.60 INF2 0 genome.wustl.edu 37 14 105177496 105177496 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 14 105177496 105177496 C T SNP INF2 ENST00000392634 human ensembl 74_37 +1 known silent c.2391 p.R797 0.015 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 16 0 0.00 6 3 33.33 IRX6 0 genome.wustl.edu 37 16 55363131 55363131 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 16 55363131 55363131 A C SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.1241 p.K414T 0.009 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 tier1 - - 100 0 0.00 24 19 44.19 ITIH5 0 genome.wustl.edu 37 10 7611540 7611540 + RNA SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 10 7611540 7611540 T G SNP ITIH5 ENST00000492668 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ITIH5 HGNC ENSG00000123243 tier1 - - 17 0 0.00 4 7 63.64 ITPRIP 0 genome.wustl.edu 37 10 106074373 106074373 + Silent SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 10 106074373 106074373 G A SNP ITPRIP ENST00000278071 human ensembl 74_37 -1 known silent c.1437 p.I479 0.463 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 tier1 - - 162 0 0.00 67 7 9.46 KCNT1 0 genome.wustl.edu 37 9 138651550 138651550 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 138651550 138651550 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.880 p.R294W 1.000 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 tier1 - - 83 0 0.00 24 16 40.00 KHDRBS2 0 genome.wustl.edu 37 6 62442600 62442600 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 62442600 62442600 T C SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.880 p.T294A 0.744 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 tier1 rs146475584 - 111 0 0.00 36 35 49.30 KIAA0226L 0 genome.wustl.edu 37 13 46917551 46917551 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 46917551 46917551 A C SNP KIAA0226L ENST00000389908 human ensembl 74_37 -1 known missense c.1958 p.L653R 0.147 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 tier1 - - 65 0 0.00 29 13 30.95 KIF18B 0 genome.wustl.edu 37 17 43011663 43011663 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 17 43011663 43011663 C T SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known missense c.823 p.A275T 0.998 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 tier1 - - 32 0 0.00 15 4 21.05 KIF2B 0 genome.wustl.edu 37 17 51901630 51901630 + Silent SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 17 51901630 51901630 T G SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known silent c.1236 p.T412 0.998 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 91 0 0.00 39 23 37.10 KLHL4 0 genome.wustl.edu 37 X 86887246 86887246 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 86887246 86887246 A C SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.1361 p.N454T 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 tier1 - - 53 0 0.00 8 20 71.43 KLHL4 0 genome.wustl.edu 37 X 86919925 86919925 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 86919925 86919925 A C SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.2087 p.E696A 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 tier1 - - 45 0 0.00 2 23 92.00 KRCC1 0 genome.wustl.edu 37 2 88327832 88327832 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 88327832 88327832 C T SNP KRCC1 ENST00000347055 human ensembl 74_37 -1 known missense c.251 p.R84Q 0.000 NULL NULL - no_errors KRCC1 HGNC ENSG00000172086 tier1 - - 109 0 0.00 43 25 36.76 LAMA1 0 genome.wustl.edu 37 18 7034564 7034564 + Silent SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 18 7034564 7034564 A G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.1965 p.D655 0.991 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 148 0 0.00 15 51 77.27 LEKR1 0 genome.wustl.edu 37 3 156763476 156763476 + Silent SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 3 156763476 156763476 T G SNP LEKR1 ENST00000356539 human ensembl 74_37 +1 known silent c.2016 p.S672 0.954 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000197980 tier1 - - 122 0 0.00 35 37 51.39 LOC101927079 0 genome.wustl.edu 37 15 22332405 22332405 + RNA SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 15 22332405 22332405 G A SNP LOC101927079 ENST00000558896 human ensembl 74_37 +1 known rna NULL NULL 0.170 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 tier1 - - 218 0 0.00 107 27 20.15 LOC101927267 0 genome.wustl.edu 37 12 49690876 49690876 + RNA SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 12 49690876 49690876 G A SNP LOC101927267 ENST00000553259 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-161H23.9 Clone_based_vega_gene ENSG00000258334 tier1 - - 127 0 0.00 11 43 79.63 LOC101929232 0 genome.wustl.edu 37 15 29060599 29060599 + RNA SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 15 29060599 29060599 A C SNP LOC101929232 ENST00000563202 human ensembl 74_37 +1 putative rna NULL NULL 0.995 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 tier1 - - 134 0 0.00 85 31 26.72 LRFN5 0 genome.wustl.edu 37 14 42356534 42356534 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 14 42356534 42356534 A C SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.706 p.S236R 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 209 0 0.00 84 55 39.57 LRP1B 0 genome.wustl.edu 37 2 141298623 141298623 + Silent SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 141298623 141298623 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.7432 p.L2478 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 123 0 0.00 42 36 46.15 LRRC18 0 genome.wustl.edu 37 10 50121999 50121999 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 10 50121999 50121999 A C SNP LRRC18 ENST00000374160 human ensembl 74_37 -1 known missense c.202 p.S68A 0.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 tier1 - - 118 0 0.00 37 31 44.93 LRRC4C 0 genome.wustl.edu 37 11 40136013 40136013 + Silent SNP T T A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 40136013 40136013 T A SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known silent c.1830 p.T610 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 tier1 - - 166 0 0.00 43 37 46.25 MAGEB1 0 genome.wustl.edu 37 X 30269103 30269103 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 30269103 30269103 T G SNP MAGEB1 ENST00000378981 human ensembl 74_37 +1 known missense c.493 p.L165V 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 tier1 - - 27 0 0.00 2 17 89.47 MAGEB2 0 genome.wustl.edu 37 X 30237207 30237207 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 30237207 30237207 A C SNP MAGEB2 ENST00000378988 human ensembl 74_37 +1 known missense c.510 p.K170N 0.011 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 tier1 - - 38 0 0.00 3 21 87.50 MAGEB3 0 genome.wustl.edu 37 X 30254478 30254478 + Missense_Mutation SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 30254478 30254478 A G SNP MAGEB3 ENST00000361644 human ensembl 74_37 +1 known missense c.437 p.K146R 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 tier1 - - 75 0 0.00 8 43 84.31 MAP1B 0 genome.wustl.edu 37 5 71495359 71495359 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 5 71495359 71495359 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.6177 p.Y2059 0.806 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 143 0 0.00 39 10 20.41 MBP 0 genome.wustl.edu 37 18 74700336 74700336 + Missense_Mutation SNP G G C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 18 74700336 74700336 G C SNP MBP ENST00000397869 human ensembl 74_37 -1 novel missense c.466 p.R156G 0.000 pfam_Myelin_BP pfam_Myelin_BP,prints_Myelin_BP - no_errors MBP HGNC ENSG00000197971 tier1 - - 28 0 0.00 4 7 63.64 MED8 0 genome.wustl.edu 37 1 43852281 43852281 + Frame_Shift_Del DEL C C - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 43852281 43852281 C - DEL MED8 ENST00000290663 human ensembl 74_37 -1 known frame_shift_del c.472 p.E158fs 1.000 pfam_Mediatior_Med8_fun/met pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 tier1 29 0 0.00 9 2 18.18 MTHFD1 0 genome.wustl.edu 37 14 64894060 64894060 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 14 64894060 64894060 C T SNP MTHFD1 ENST00000216605 human ensembl 74_37 +1 known missense c.1133 p.T378I 1.000 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase 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 tier1 - - 94 0 0.00 27 19 41.30 MTMR4 0 genome.wustl.edu 37 17 56573630 56573630 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 17 56573630 56573630 T C SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.1873 p.T625A 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 tier1 - - 69 0 0.00 40 26 39.39 MUC5B 0 genome.wustl.edu 37 11 1262688 1262688 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 1262688 1262688 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.4587 p.D1529 0.646 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 tier1 - - 56 0 0.00 16 6 27.27 MUC5B 0 genome.wustl.edu 37 11 1265684 1265684 + Missense_Mutation SNP T T A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 1265684 1265684 T A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.7583 p.L2528Q 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 tier1 - - 88 0 0.00 20 19 48.72 MYCN 0 genome.wustl.edu 37 2 16082272 16082272 + Frame_Shift_Del DEL A A - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 16082272 16082272 A - DEL MYCN ENST00000281043 human ensembl 74_37 +1 known frame_shift_del c.86 p.Y29fs 1.000 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 tier1 63 0 0.00 15 2 11.76 MYCT1 0 genome.wustl.edu 37 6 153019200 153019200 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 153019200 153019200 A C SNP MYCT1 ENST00000367245 human ensembl 74_37 +1 known missense c.163 p.S55R 0.998 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 tier1 - - 134 0 0.00 58 30 34.09 MYO3A 0 genome.wustl.edu 37 10 26462802 26462802 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 10 26462802 26462802 A C SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.3609 p.E1203D 0.001 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 tier1 - - 104 0 0.00 50 19 27.54 NALCN 0 genome.wustl.edu 37 13 101833582 101833582 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 101833582 101833582 A C SNP NALCN ENST00000376196 human ensembl 74_37 -1 known missense c.1871 p.L624R 0.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 113 0 0.00 39 22 36.07 NDST4 0 genome.wustl.edu 37 4 115856423 115856423 + Missense_Mutation SNP G G T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 115856423 115856423 G T SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.1475 p.P492H 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 - - 96 0 0.00 49 28 36.36 NF2 0 genome.wustl.edu 37 22 30067882 30067882 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 22 30067882 30067882 T G SNP NF2 ENST00000338641 human ensembl 74_37 +1 known missense c.1067 p.L356W 1.000 pirsf_ERM,pfam_ERM_C_dom,prints_Tropomyosin pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin - no_errors NF2 HGNC ENSG00000186575 tier1 - - 89 0 0.00 5 23 82.14 NLGN4X 0 genome.wustl.edu 37 X 6069222 6069222 + Missense_Mutation SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 6069222 6069222 A G SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.286 p.S96P 0.996 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 tier1 - - 97 0 0.00 6 41 87.23 NOD2 0 genome.wustl.edu 37 16 50733399 50733399 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 16 50733399 50733399 G A SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.74 p.G25D 0.992 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 tier1 - - 252 0 0.00 73 46 38.66 NPY1R 0 genome.wustl.edu 37 4 164246855 164246855 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 164246855 164246855 T G SNP NPY1R ENST00000296533 human ensembl 74_37 -1 known missense c.755 p.K252T 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY1R HGNC ENSG00000164128 tier1 - - 116 0 0.00 42 29 40.85 NR3C1 0 genome.wustl.edu 37 5 142779275 142779275 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 5 142779275 142779275 G A SNP NR3C1 ENST00000231509 human ensembl 74_37 -1 known missense c.1130 p.S377F 1.000 pfam_Glcrtcd_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 tier1 - - 171 0 0.00 85 5 5.56 NRK 0 genome.wustl.edu 37 X 105168815 105168815 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 105168815 105168815 A C SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.3107 p.E1036A 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 tier1 - - 21 0 0.00 2 17 89.47 NUMB 0 genome.wustl.edu 37 14 73746075 73746075 + Missense_Mutation SNP G G T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 14 73746075 73746075 G T SNP NUMB ENST00000355058 human ensembl 74_37 -1 known missense c.1154 p.A385E 1.000 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMB HGNC ENSG00000133961 tier1 - - 91 0 0.00 26 24 48.00 NXF2B 0 genome.wustl.edu 37 X 101623723 101623723 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 101623723 101623723 T G SNP NXF2B ENST00000372749 human ensembl 74_37 -1 known missense c.639 p.Q213H 0.119 NULL pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2B HGNC ENSG00000185945 tier1 - - 153 0 0.00 56 19 25.33 NXPE1 0 genome.wustl.edu 37 11 114393749 114393749 + Silent SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 114393749 114393749 A C SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known silent c.960 p.T320 0.018 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 tier1 - - 99 0 0.00 42 17 28.81 OGDHL 0 genome.wustl.edu 37 10 50960708 50960708 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 10 50960708 50960708 A C SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.454 p.L152V 0.998 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 tier1 - - 73 0 0.00 21 24 53.33 OLFML2B 0 genome.wustl.edu 37 1 161968002 161968002 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 161968002 161968002 C T SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1087 p.D363N 0.000 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 tier1 - - 194 0 0.00 55 49 47.12 OPRK1 0 genome.wustl.edu 37 8 54147657 54147657 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 54147657 54147657 T G SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.272 p.K91T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Opioid_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 tier1 - - 112 0 0.00 53 26 32.91 OR10J3 0 genome.wustl.edu 37 1 159284282 159284282 + Silent SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 159284282 159284282 A C SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known silent c.168 p.L56 0.858 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 tier1 - - 164 0 0.00 59 59 50.00 OR14C36 0 genome.wustl.edu 37 1 248512182 248512182 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 248512182 248512182 A C SNP OR14C36 ENST00000317861 human ensembl 74_37 +1 known missense c.106 p.T36P 0.008 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14C36 HGNC ENSG00000177174 tier1 - - 171 0 0.00 68 29 29.90 OR2L3 0 genome.wustl.edu 37 1 248224688 248224688 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 248224688 248224688 A C SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known missense c.705 p.K235N 0.891 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 tier1 - - 204 0 0.00 82 41 33.33 OR2T10 0 genome.wustl.edu 37 1 248756506 248756506 + Silent SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 248756506 248756506 A G SNP OR2T10 ENST00000330500 human ensembl 74_37 -1 known silent c.564 p.S188 0.995 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 OR2T10 HGNC ENSG00000184022 tier1 - - 110 0 0.00 41 30 42.25 OR2T4 0 genome.wustl.edu 37 1 248525579 248525579 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 248525579 248525579 T G SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.697 p.L233V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 tier1 - - 205 0 0.00 81 42 34.15 OR3A1 0 genome.wustl.edu 37 17 3195398 3195398 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 17 3195398 3195398 A C SNP OR3A1 ENST00000323404 human ensembl 74_37 -1 known missense c.479 p.L160R 0.004 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A1 HGNC ENSG00000180090 tier1 - - 169 0 0.00 18 34 65.38 OR4K2 0 genome.wustl.edu 37 14 20345002 20345002 + Silent SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 14 20345002 20345002 T C SNP OR4K2 ENST00000298642 human ensembl 74_37 +1 known silent c.576 p.T192 0.986 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K2 HGNC ENSG00000165762 tier1 - - 750 0 0.00 390 89 18.58 OR4N2 0 genome.wustl.edu 37 14 20296136 20296136 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 14 20296136 20296136 T G SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.529 p.F177V 0.997 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 OR4N2 HGNC ENSG00000176294 tier1 - - 398 0 0.00 215 49 18.56 OR4N2 0 genome.wustl.edu 37 14 20296349 20296349 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 14 20296349 20296349 T G SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.742 p.F248V 0.667 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 tier1 - - 341 0 0.00 176 50 21.93 OR4P4 0 genome.wustl.edu 37 11 55405969 55405969 + Missense_Mutation SNP T T A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 55405969 55405969 T A SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known missense c.136 p.S46T 0.626 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 OR4P4 HGNC ENSG00000181927 tier1 - - 155 0 0.00 64 34 34.69 OR51A7 0 genome.wustl.edu 37 11 4929411 4929411 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 4929411 4929411 T G SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.812 p.V271G 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 tier1 - - 207 0 0.00 68 50 42.37 OR51M1 0 genome.wustl.edu 37 11 5410825 5410825 + Missense_Mutation SNP G G C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 5410825 5410825 G C SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known missense c.197 p.R66P 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 tier1 - - 129 0 0.00 28 45 60.81 OR51S1 0 genome.wustl.edu 37 11 4870378 4870378 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 4870378 4870378 A C SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known missense c.61 p.L21V 0.171 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 tier1 - - 128 0 0.00 32 28 46.67 OR52J3 0 genome.wustl.edu 37 11 5068434 5068434 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 5068434 5068434 T G SNP OR52J3 ENST00000380370 human ensembl 74_37 +1 known missense c.679 p.F227V 0.168 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 OR52J3 HGNC ENSG00000205495 tier1 - - 195 0 0.00 45 44 49.44 OR56A3 0 genome.wustl.edu 37 11 5969504 5969504 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 5969504 5969504 T G SNP OR56A3 ENST00000329564 human ensembl 74_37 +1 known missense c.928 p.L310V 0.004 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A3 HGNC ENSG00000184478 tier1 - - 94 0 0.00 43 14 24.56 OR5D13 0 genome.wustl.edu 37 11 55541046 55541046 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 55541046 55541046 T G SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.133 p.L45V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 tier1 - - 192 0 0.00 59 41 41.00 OR6N2 0 genome.wustl.edu 37 1 158747082 158747082 + Missense_Mutation SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 158747082 158747082 A G SNP OR6N2 ENST00000339258 human ensembl 74_37 -1 known missense c.344 p.L115P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC ENSG00000188340 tier1 - - 106 0 0.00 64 28 30.43 ORC2 0 genome.wustl.edu 37 2 201796105 201796105 + Nonsense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 201796105 201796105 G A SNP ORC2 ENST00000234296 human ensembl 74_37 -1 known nonsense c.874 p.Q292* 0.999 pfam_ORC2 pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 tier1 - - 120 0 0.00 39 18 31.58 PAG1 0 genome.wustl.edu 37 8 81905433 81905433 + Silent SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 81905433 81905433 G A SNP PAG1 ENST00000220597 human ensembl 74_37 -1 known silent c.30 p.S10 0.000 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 tier1 - - 48 0 0.00 22 12 35.29 PAPD5 0 genome.wustl.edu 37 16 50257227 50257227 + Missense_Mutation SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 16 50257227 50257227 A G SNP PAPD5 ENST00000436909 human ensembl 74_37 +1 known missense c.1265 p.D422G 1.000 pfam_PAP_assoc pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 tier1 - - 51 0 0.00 22 5 18.52 PAPPA 0 genome.wustl.edu 37 9 118950133 118950133 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 118950133 118950133 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.1116 p.R372 0.657 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,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 PAPPA HGNC ENSG00000182752 tier1 rs201148082 - 45 0 0.00 16 9 36.00 PARD3B 0 genome.wustl.edu 37 2 206166297 206166297 + Silent SNP C C G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 206166297 206166297 C G SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known silent c.2502 p.V834 0.617 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 tier1 - - 76 0 0.00 6 21 77.78 PARVG 0 genome.wustl.edu 37 22 44581750 44581750 + Frame_Shift_Del DEL A A - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 22 44581750 44581750 A - DEL PARVG ENST00000415224 human ensembl 74_37 +1 known frame_shift_del c.142 p.K48fs 0.952 pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVG HGNC ENSG00000138964 tier1 40 0 0.00 7 2 22.22 PCDH20 0 genome.wustl.edu 37 13 61986022 61986022 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 61986022 61986022 T C SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.2210 p.D737G 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 - - 160 0 0.00 68 44 39.29 PCDHA9 0 genome.wustl.edu 37 5 140228896 140228896 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 5 140228896 140228896 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.816 p.G272 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 - - 20 0 0.00 6 3 33.33 PCDHB7 0 genome.wustl.edu 37 5 140553262 140553262 + Silent SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 5 140553262 140553262 T C SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.846 p.S282 0.011 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 PCDHB7 HGNC ENSG00000113212 tier1 - - 136 0 0.00 41 28 40.58 PDHA2 0 genome.wustl.edu 37 4 96761606 96761606 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 96761606 96761606 T G SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.305 p.L102R 0.043 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 tier1 - - 209 0 0.00 55 70 55.56 PDIA5 0 genome.wustl.edu 37 3 122843139 122843139 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 3 122843139 122843139 A C SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known missense c.722 p.Q241P 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 tier1 - - 239 0 0.00 42 56 57.14 PDZRN3 0 genome.wustl.edu 37 3 73440209 73440209 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 3 73440209 73440209 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.1313 p.R438Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 332 0 0.00 28 91 75.83 PDZRN3 0 genome.wustl.edu 37 3 73440210 73440210 + Silent SNP G G T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 3 73440210 73440210 G T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known silent c.1312 p.R438 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 333 0 0.00 29 92 76.03 PEG3 0 genome.wustl.edu 37 19 57325616 57325616 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 57325616 57325616 T G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.4194 p.E1398D 0.010 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 105 0 0.00 40 30 42.86 PGBD2 0 genome.wustl.edu 37 1 249211740 249211740 + Silent SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 249211740 249211740 G A SNP PGBD2 ENST00000329291 human ensembl 74_37 +1 known silent c.957 p.K319 0.028 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 tier1 rs150759335 - 196 0 0.00 68 63 48.09 PHF2 0 genome.wustl.edu 37 9 96408055 96408055 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 96408055 96408055 C T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known silent c.444 p.D148 0.514 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 tier1 - - 69 0 0.00 28 10 26.32 PKHD1 0 genome.wustl.edu 37 6 51512849 51512849 + Missense_Mutation SNP G G T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 51512849 51512849 G T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.11378 p.A3793E 0.003 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 98 0 0.00 37 29 43.94 POSTN 0 genome.wustl.edu 37 13 38153490 38153490 + Missense_Mutation SNP T T A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 38153490 38153490 T A SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.1667 p.K556I 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 153 0 0.00 43 37 45.68 POSTN 0 genome.wustl.edu 37 13 38154749 38154749 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 38154749 38154749 T C SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.1478 p.K493R 0.990 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 214 0 0.00 94 60 38.96 POTEM 0 genome.wustl.edu 37 14 19990584 19990584 + Silent SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 14 19990584 19990584 T C SNP POTEM ENST00000551509 human ensembl 74_37 -1 novel silent c.1491 p.E497 0.008 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 tier1 - - 38 0 0.00 20 3 13.04 PPP1R3A 0 genome.wustl.edu 37 7 113518542 113518542 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 7 113518542 113518542 A C SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.2605 p.L869V 0.003 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 145 0 0.00 42 50 54.35 PPP1R3A 0 genome.wustl.edu 37 7 113558642 113558642 + Missense_Mutation SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 7 113558642 113558642 A G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.410 p.L137P 1.000 pfam_CBM_21,pfscan_CBM_21 pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 134 0 0.00 61 55 47.41 PRAMEF2 0 genome.wustl.edu 37 1 12921521 12921521 + Missense_Mutation SNP A A T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 12921521 12921521 A T SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.1312 p.M438L 0.011 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 tier1 - - 237 0 0.00 70 56 44.09 PRAMEF4 0 genome.wustl.edu 37 1 12939842 12939842 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 12939842 12939842 C T SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known silent c.960 p.P320 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 tier1 - - 432 0 0.00 139 104 42.80 PRAMEF7 0 genome.wustl.edu 37 1 12979843 12979843 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 12979843 12979843 A C SNP PRAMEF7 ENST00000330881 human ensembl 74_37 +1 known missense c.1035 p.Q345H 0.000 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 tier1 - - 170 0 0.00 61 27 30.68 PREX2 0 genome.wustl.edu 37 8 69031715 69031715 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 69031715 69031715 A C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3470 p.K1157T 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 216 0 0.00 118 59 33.33 PREX2 0 genome.wustl.edu 37 8 69046509 69046509 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 69046509 69046509 T G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3982 p.L1328V 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 40 0 0.00 28 16 36.36 PRUNE2 0 genome.wustl.edu 37 9 79325757 79325757 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 79325757 79325757 G A SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.356 p.A119V 0.144 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 tier1 - - 52 0 0.00 20 16 44.44 PTGER3 0 genome.wustl.edu 37 1 71418602 71418602 + Silent SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 71418602 71418602 T C SNP PTGER3 ENST00000356595 human ensembl 74_37 -1 known silent c.1245 p.V415 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 tier1 - - 176 0 0.00 48 46 48.94 PTPN13 0 genome.wustl.edu 37 4 87622674 87622674 + Missense_Mutation SNP G G T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 87622674 87622674 G T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.915 p.L305F 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 78 0 0.00 22 18 45.00 PTPRK 0 genome.wustl.edu 37 6 128505687 128505687 + Nonsense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 128505687 128505687 C T SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known nonsense c.1052 p.W351* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 240 0 0.00 90 59 39.60 PTPRS 0 genome.wustl.edu 37 19 5208390 5208390 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 5208390 5208390 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.5503 p.R1835W 0.996 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 79 0 0.00 6 13 68.42 PYHIN1 0 genome.wustl.edu 37 1 158913740 158913740 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 158913740 158913740 T C SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.1163 p.L388P 0.011 pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 tier1 - - 78 0 0.00 38 27 41.54 QSOX2 0 genome.wustl.edu 37 9 139108532 139108532 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 139108532 139108532 C T SNP QSOX2 ENST00000358701 human ensembl 74_37 -1 known missense c.1123 p.E375K 1.000 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 tier1 - - 118 0 0.00 32 25 43.86 RANBP17 0 genome.wustl.edu 37 5 170395365 170395365 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 5 170395365 170395365 T G SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.1694 p.L565R 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 tier1 - - 140 0 0.00 41 33 44.59 RFPL4B 0 genome.wustl.edu 37 6 112671050 112671050 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 112671050 112671050 C T SNP RFPL4B ENST00000441065 human ensembl 74_37 +1 known missense c.140 p.A47V 0.000 smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC ENSG00000251258 tier1 - - 50 0 0.00 16 7 30.43 RGPD3 0 genome.wustl.edu 37 2 107041249 107041249 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 107041249 107041249 T G SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.3174 p.K1058N 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 634 0 0.00 258 167 39.02 RGS7 0 genome.wustl.edu 37 1 241031960 241031960 + Missense_Mutation SNP T T A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 241031960 241031960 T A SNP RGS7 ENST00000407727 human ensembl 74_37 -1 known missense c.536 p.K179M 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS7 HGNC ENSG00000182901 tier1 - - 59 0 0.00 25 21 45.65 RIMS2 0 genome.wustl.edu 37 8 104898091 104898091 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 104898091 104898091 A C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1264 p.S422R 1.000 NULL 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 tier1 - - 57 0 0.00 22 25 53.19 ROR2 0 genome.wustl.edu 37 9 94487215 94487215 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 94487215 94487215 A C SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.1561 p.F521V 1.000 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,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 tier1 - - 107 0 0.00 63 33 34.02 RPL6P27 0 genome.wustl.edu 37 18 6462496 6462496 + RNA SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 18 6462496 6462496 A C SNP RPL6P27 ENST00000583065 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors RPL6P27 HGNC ENSG00000235552 tier1 - - 44 0 0.00 5 14 70.00 RYR3 0 genome.wustl.edu 37 15 34130587 34130587 + Missense_Mutation SNP C C G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 15 34130587 34130587 C G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.12406 p.L4136V 0.001 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 tier1 - - 177 0 0.00 75 34 31.19 SACS 0 genome.wustl.edu 37 13 23909805 23909805 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 23909805 23909805 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.8210 p.L2737R 1.000 superfamily_HATPase_ATP-bd pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 148 0 0.00 54 39 41.94 SACS 0 genome.wustl.edu 37 13 23912736 23912736 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 23912736 23912736 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.5279 p.L1760R 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 218 0 0.00 87 57 39.58 SBF2 0 genome.wustl.edu 37 11 9878255 9878255 + Missense_Mutation SNP C C A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 9878255 9878255 C A SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.2113 p.D705Y 0.995 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 tier1 - - 304 0 0.00 117 50 29.94 SCN7A 0 genome.wustl.edu 37 2 167334203 167334203 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 167334203 167334203 A C SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.4 p.L2V 0.620 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 25 0 0.00 5 7 58.33 SELRC1 0 genome.wustl.edu 37 1 53153823 53153823 + Silent SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 53153823 53153823 G A SNP SELRC1 ENST00000371538 human ensembl 74_37 -1 known silent c.265 p.L89 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SELRC1 HGNC ENSG00000162377 tier1 - - 32 0 0.00 18 7 28.00 SEMA3D 0 genome.wustl.edu 37 7 84636209 84636209 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 7 84636209 84636209 A C SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.1817 p.F606C 1.000 smart_Ig_sub pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 tier1 - - 166 0 0.00 63 69 52.27 SEMA5A 0 genome.wustl.edu 37 5 9044617 9044617 + Silent SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 5 9044617 9044617 A C SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.2973 p.T991 0.979 NULL 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 SEMA5A HGNC ENSG00000112902 tier1 - - 175 0 0.00 61 39 39.00 SEMA6D 0 genome.wustl.edu 37 15 48063126 48063126 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 15 48063126 48063126 A C SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.2366 p.K789T 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 tier1 - - 90 0 0.00 30 19 38.00 SFRP1 0 genome.wustl.edu 37 8 41122690 41122690 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 41122690 41122690 T G SNP SFRP1 ENST00000220772 human ensembl 74_37 -1 known missense c.941 p.K314T 1.000 NULL 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 tier1 - - 16 0 0.00 8 5 38.46 SHCBP1 0 genome.wustl.edu 37 16 46649918 46649918 + Nonsense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 16 46649918 46649918 C T SNP SHCBP1 ENST00000303383 human ensembl 74_37 -1 known nonsense c.536 p.W179* 1.000 NULL superfamily_Pectin_lyase_fold/virulence,smart_PbH1 - no_errors SHCBP1 HGNC ENSG00000171241 tier1 - - 275 0 0.00 153 20 11.49 SLC12A1 0 genome.wustl.edu 37 15 48499982 48499982 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 15 48499982 48499982 A C SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.66 p.Q22H 1.000 NULL pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 tier1 - - 53 0 0.00 17 5 22.73 SLC44A5 0 genome.wustl.edu 37 1 75681467 75681467 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 75681467 75681467 T G SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known missense c.1700 p.K567T 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 tier1 - - 74 0 0.00 41 14 25.45 SLCO1B1 0 genome.wustl.edu 37 12 21331643 21331643 + Silent SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 12 21331643 21331643 T G SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known silent c.615 p.S205 0.942 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 tier1 - - 138 0 0.00 12 193 94.15 SLITRK3 0 genome.wustl.edu 37 3 164908242 164908242 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 3 164908242 164908242 A C SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.377 p.I126S 0.993 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 tier1 - - 86 0 0.00 38 11 22.00 SNORA76 0 genome.wustl.edu 37 17 62223681 62223682 + RNA DEL GT GT - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 17 62223681 62223682 GT - DEL SNORA76 ENST00000582965 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SNORA76 HGNC ENSG00000266402 tier1 169 0 0.00 53 29 35.37 SORCS1 0 genome.wustl.edu 37 10 108459040 108459040 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 10 108459040 108459040 T C SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.1345 p.T449A 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 126 0 0.00 34 26 43.33 SOX17 0 genome.wustl.edu 37 8 55371645 55371645 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 55371645 55371645 C T SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known missense c.335 p.A112V 0.977 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 tier1 - - 29 0 0.00 8 6 42.86 SPOCK1 0 genome.wustl.edu 37 5 136324248 136324248 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 5 136324248 136324248 A C SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known missense c.791 p.L264R 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 tier1 - - 100 0 0.00 15 17 53.12 SPRR3 0 genome.wustl.edu 37 1 152975804 152975804 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 152975804 152975804 A C SNP SPRR3 ENST00000295367 human ensembl 74_37 +1 known missense c.308 p.E103A 0.658 pfam_Cornifin pfam_Cornifin - no_errors SPRR3 HGNC ENSG00000163209 tier1 - - 99 0 0.00 56 31 35.63 SRSF6 0 genome.wustl.edu 37 20 42086678 42086678 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 20 42086678 42086678 C T SNP SRSF6 ENST00000244020 human ensembl 74_37 +1 known missense c.5 p.P2L 1.000 pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF6 HGNC ENSG00000124193 tier1 - - 43 0 0.00 16 10 38.46 STAG3 0 genome.wustl.edu 37 7 99796147 99796147 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 7 99796147 99796147 G A SNP STAG3 ENST00000317296 human ensembl 74_37 +1 known missense c.1294 p.V432I 0.519 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 tier1 - - 130 0 0.00 80 13 13.98 STK11 0 genome.wustl.edu 37 19 1207114 1207116 + In_Frame_Del DEL GAC GAC - TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 GAC GAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 1207114 1207116 GAC - DEL STK11 ENST00000326873 human ensembl 74_37 +1 known in_frame_del c.202_204 p.D68in_frame_del 1.000:1.000:1.000 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 STK11 HGNC ENSG00000118046 tier1 41 0 0.00 2 3 60.00 STK40 0 genome.wustl.edu 37 1 36823906 36823906 + Silent SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 36823906 36823906 G A SNP STK40 ENST00000373130 human ensembl 74_37 -1 known silent c.291 p.T97 0.924 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 STK40 HGNC ENSG00000196182 tier1 - - 62 0 0.00 10 19 65.52 STL 0 genome.wustl.edu 37 6 125232069 125232069 + RNA SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 125232069 125232069 T G SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 tier1 - - 69 0 0.00 25 21 45.65 STRC 0 genome.wustl.edu 37 15 43900402 43900402 + Splice_Site SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 15 43900402 43900402 C T SNP STRC ENST00000450892 human ensembl 74_37 -1 known splice_site c.3558-1 e17-1 1.000 - - - no_errors STRC HGNC ENSG00000242866 tier1 - - 28 0 0.00 20 9 31.03 STRN3 0 genome.wustl.edu 37 14 31416392 31416392 + Missense_Mutation SNP G G C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 14 31416392 31416392 G C SNP STRN3 ENST00000357479 human ensembl 74_37 -1 known missense c.620 p.S207C 1.000 NULL pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRN3 HGNC ENSG00000196792 tier1 - - 166 0 0.00 73 51 41.13 TAL1 0 genome.wustl.edu 37 1 47685497 47685497 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 47685497 47685497 C T SNP TAL1 ENST00000371883 human ensembl 74_37 -1 known silent c.897 p.G299 0.971 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TAL1 HGNC ENSG00000162367 tier1 - - 100 0 0.00 43 7 14.00 TBL2 0 genome.wustl.edu 37 7 72985558 72985558 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 7 72985558 72985558 G A SNP TBL2 ENST00000305632 human ensembl 74_37 -1 known missense c.839 p.A280V 0.994 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 tier1 - - 49 0 0.00 22 24 52.17 TG 0 genome.wustl.edu 37 8 133898746 133898746 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 133898746 133898746 T G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.1129 p.F377V 1.000 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 tier1 - - 219 0 0.00 111 69 38.33 TGIF2LX 0 genome.wustl.edu 37 X 89177253 89177253 + Missense_Mutation SNP T T A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f X 89177253 89177253 T A SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known missense c.169 p.L57M 0.714 pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 tier1 - - 47 0 0.00 9 28 75.68 TLL1 0 genome.wustl.edu 37 4 166915634 166915634 + Missense_Mutation SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 166915634 166915634 A G SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.463 p.R155G 1.000 smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 91 0 0.00 39 20 33.90 TMEM41B 0 genome.wustl.edu 37 11 9305016 9305016 + Silent SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 9305016 9305016 A G SNP TMEM41B ENST00000299596 human ensembl 74_37 -1 known silent c.831 p.I277 0.980 NULL pfam_SNARE_assoc - no_errors TMEM41B HGNC ENSG00000166471 tier1 - - 60 0 0.00 36 4 10.00 TNN 0 genome.wustl.edu 37 1 175046658 175046658 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 1 175046658 175046658 A C SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.104 p.N35T 0.697 NULL 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 TNN HGNC ENSG00000120332 tier1 - - 84 0 0.00 34 19 35.85 TNS1 0 genome.wustl.edu 37 2 218712303 218712303 + Silent SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 218712303 218712303 A C SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.2562 p.T854 0.033 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_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 tier1 - - 125 0 0.00 43 24 35.82 TONSL 0 genome.wustl.edu 37 8 145660506 145660506 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 145660506 145660506 C T SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.2900 p.R967H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 16 0 0.00 8 2 20.00 TP53 0 genome.wustl.edu 37 17 7578530 7578530 + Missense_Mutation SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 17 7578530 7578530 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.400 p.F134L 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 68 0 0.00 3 22 88.00 TRHDE 0 genome.wustl.edu 37 12 73046873 73046873 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 12 73046873 73046873 A C SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2786 p.N929T 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 95 0 0.00 14 30 68.18 TRIM49C 0 genome.wustl.edu 37 11 89774338 89774338 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 89774338 89774338 A C SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.979 p.S327R 0.001 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 tier1 - - 71 0 0.00 33 5 13.16 TRIM49C 0 genome.wustl.edu 37 11 89806425 89806425 + Missense_Mutation SNP T T A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 89806425 89806425 T A SNP TRIM49C ENST00000432771 human ensembl 74_37 +1 known missense c.1208 p.V403D 0.009 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,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 TRIM49C HGNC ENSG00000204449 tier1 - - 67 0 0.00 14 33 70.21 TRIM51 0 genome.wustl.edu 37 11 55653074 55653074 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 11 55653074 55653074 A C SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known missense c.170 p.K57T 0.027 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 tier1 - - 37 0 0.00 15 6 28.57 TRIM60 0 genome.wustl.edu 37 4 165961327 165961327 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 4 165961327 165961327 T G SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known missense c.103 p.F35V 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,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 TRIM60 HGNC ENSG00000176979 tier1 - - 104 0 0.00 45 21 31.82 TTN 0 genome.wustl.edu 37 2 179495996 179495996 + Silent SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 179495996 179495996 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.36075 p.Q12025 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,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 tier1 - - 43 0 0.00 9 8 47.06 TTN 0 genome.wustl.edu 37 2 179586855 179586855 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 179586855 179586855 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.18803 p.K6268T 1.000 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 tier1 - - 255 0 0.00 79 56 41.48 TTN 0 genome.wustl.edu 37 2 179604702 179604702 + Silent SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 179604702 179604702 T G SNP TTN ENST00000342175 human ensembl 74_37 -1 known silent c.12745 p.R4249 0.990 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 tier1 - - 130 0 0.00 38 32 45.71 TUBA3C 0 genome.wustl.edu 37 13 19751191 19751191 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 19751191 19751191 T G SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.932 p.K311T 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom 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 TUBA3C HGNC ENSG00000198033 tier1 - - 186 0 0.00 69 54 43.20 UBXN2B 0 genome.wustl.edu 37 8 59346987 59346987 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 59346987 59346987 T G SNP UBXN2B ENST00000399598 human ensembl 74_37 +1 known missense c.457 p.F153V 1.000 pfam_SEP_domain,superfamily_SEP_domain,smart_SEP_domain pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors UBXN2B HGNC ENSG00000215114 tier1 - - 39 0 0.00 22 21 48.84 UTRN 0 genome.wustl.edu 37 6 144758745 144758745 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 144758745 144758745 C T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known silent c.1104 p.S368 0.001 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 tier1 - - 64 0 0.00 31 12 27.91 UTRN 0 genome.wustl.edu 37 6 144783820 144783820 + Missense_Mutation SNP C C A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 144783820 144783820 C A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.2884 p.P962T 0.815 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 tier1 - - 98 0 0.00 24 22 47.83 VN1R2 0 genome.wustl.edu 37 19 53762234 53762234 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 53762234 53762234 A C SNP VN1R2 ENST00000341702 human ensembl 74_37 +1 known missense c.606 p.K202N 0.003 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC ENSG00000196131 tier1 - - 66 0 0.00 27 19 41.30 VWA8 0 genome.wustl.edu 37 13 42306245 42306245 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 13 42306245 42306245 C T SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.2473 p.G825R 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 tier1 - - 85 0 0.00 28 15 34.88 VWC2 0 genome.wustl.edu 37 7 49951712 49951712 + Silent SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 7 49951712 49951712 T G SNP VWC2 ENST00000340652 human ensembl 74_37 +1 known silent c.909 p.T303 0.149 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors VWC2 HGNC ENSG00000188730 tier1 - - 71 0 0.00 13 13 50.00 WNT2 0 genome.wustl.edu 37 7 116918397 116918397 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 7 116918397 116918397 G A SNP WNT2 ENST00000265441 human ensembl 74_37 -1 known missense c.895 p.R299W 0.999 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 34 0 0.00 33 4 10.81 XDH 0 genome.wustl.edu 37 2 31598295 31598295 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 31598295 31598295 T G SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.1553 p.K518T 1.000 pfam_CO_DH_flav_C,superfamily_CO_DH_flav_C,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 tier1 - - 134 0 0.00 11 35 76.09 XPA 0 genome.wustl.edu 37 9 100437664 100437664 + RNA SNP C C G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 9 100437664 100437664 C G SNP XPA ENST00000485042 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors XPA HGNC ENSG00000136936 tier1 - - 56 0 0.00 16 14 46.67 ZBBX 0 genome.wustl.edu 37 3 167023579 167023579 + Missense_Mutation SNP A A C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 3 167023579 167023579 A C SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.1577 p.L526R 0.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 tier1 - - 105 0 0.00 46 23 33.33 ZFPM2 0 genome.wustl.edu 37 8 106813886 106813886 + Missense_Mutation SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 8 106813886 106813886 C T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1576 p.R526W 0.983 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 157 0 0.00 70 55 44.00 ZNF154 0 genome.wustl.edu 37 19 58213438 58213438 + Silent SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 58213438 58213438 T C SNP ZNF154 ENST00000426889 human ensembl 74_37 -1 known silent c.879 p.K293 0.934 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 ZNF154 HGNC ENSG00000179909 tier1 - - 106 0 0.00 49 33 40.24 ZNF280A 0 genome.wustl.edu 37 22 22869567 22869567 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 22 22869567 22869567 G A SNP ZNF280A ENST00000302097 human ensembl 74_37 -1 known missense c.388 p.P130S 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 tier1 - - 99 0 0.00 11 38 77.55 ZNF311 0 genome.wustl.edu 37 6 28963560 28963560 + Silent SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 6 28963560 28963560 T G SNP ZNF311 ENST00000377179 human ensembl 74_37 -1 known silent c.1219 p.R407 0.650 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 ZNF311 HGNC ENSG00000197935 tier1 - - 94 0 0.00 46 28 37.84 ZNF347 0 genome.wustl.edu 37 19 53643591 53643591 + Silent SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 53643591 53643591 G A SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known silent c.2493 p.F831 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 tier1 - - 273 0 0.00 118 64 35.16 ZNF471 0 genome.wustl.edu 37 19 57035783 57035783 + Missense_Mutation SNP T T A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 57035783 57035783 T A SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.347 p.L116H 0.001 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 ZNF471 HGNC ENSG00000196263 tier1 - - 112 0 0.00 51 35 40.70 ZNF536 0 genome.wustl.edu 37 19 31039381 31039381 + Missense_Mutation SNP T T C TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 31039381 31039381 T C SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.2855 p.V952A 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 342 0 0.00 23 73 76.04 ZNF554 0 genome.wustl.edu 37 19 2832480 2832480 + Missense_Mutation SNP G G A TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 2832480 2832480 G A SNP ZNF554 ENST00000317243 human ensembl 74_37 +1 known missense c.433 p.A145T 0.002 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 ZNF554 HGNC ENSG00000172006 tier1 - - 111 0 0.00 13 25 65.79 ZNF568 0 genome.wustl.edu 37 19 37488342 37488342 + Silent SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 37488342 37488342 A G SNP ZNF568 ENST00000455427 human ensembl 74_37 +1 known silent c.1557 p.K519 0.395 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 tier1 - - 17 0 0.00 7 8 53.33 ZNF729 0 genome.wustl.edu 37 19 22499083 22499083 + Missense_Mutation SNP A A T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 22499083 22499083 A T SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.2864 p.K955M 0.880 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 ZNF729 HGNC ENSG00000196350 tier1 - - 83 0 0.00 15 19 55.88 ZNF793 0 genome.wustl.edu 37 19 38027931 38027931 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 38027931 38027931 T G SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known missense c.371 p.L124R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ENSG00000188227 tier1 - - 33 0 0.00 12 9 42.86 ZNF804A 0 genome.wustl.edu 37 2 185801789 185801789 + Missense_Mutation SNP A A G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 2 185801789 185801789 A G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1666 p.R556G 0.149 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 84 0 0.00 31 21 40.38 ZNF813 0 genome.wustl.edu 37 19 53995165 53995165 + Missense_Mutation SNP T T G TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 19 53995165 53995165 T G SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known missense c.1679 p.F560C 0.427 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 ZNF813 HGNC ENSG00000198346 tier1 - - 104 0 0.00 28 19 40.43 ZSCAN1 0 genome.wustl.edu 37 19 58565272 58565272 + Silent SNP C C T TCGA-VQ-A91V-01A-11D-A410-08 TCGA-VQ-A91V-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 129bd509-0f0a-48e8-91e6-e676d87e47d4 0814f8b7-c702-4acd-9d6b-c846eb21428f 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 tier1 rs144381428 - 31 0 0.00 7 5 41.67