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 ABCA8 0 genome.wustl.edu 37 17 66925797 66925797 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 17 66925797 66925797 G T SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known missense c.844 p.L282I 0.005 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 tier1 - - 47 0 0.00 37 4 9.76 ABCC11 0 genome.wustl.edu 37 16 48247407 48247407 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 16 48247407 48247407 G A SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.1303 p.P435S 0.641 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 tier1 - - 51 0 0.00 41 4 8.89 ABHD17B 0 genome.wustl.edu 37 9 74489614 74489614 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 9 74489614 74489614 G T SNP ABHD17B ENST00000377041 human ensembl 74_37 -1 known missense c.383 p.S128Y 1.000 NULL pfam_Peptidase_S9,pfam_Dienelactn_hydro - no_errors ABHD17B HGNC ENSG00000107362 tier1 - - 33 0 0.00 47 4 7.84 AFG3L2 0 genome.wustl.edu 37 18 12351111 12351111 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 18 12351111 12351111 G T SNP AFG3L2 ENST00000269143 human ensembl 74_37 -1 known missense c.1525 p.L509M 1.000 superfamily_P-loop_NTPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 tier1 - - 98 0 0.00 58 4 6.45 AFTPH 0 genome.wustl.edu 37 2 64796270 64796270 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 64796270 64796270 C T SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known missense c.2132 p.A711V 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 tier1 - - 62 0 0.00 42 4 8.70 AGBL5 0 genome.wustl.edu 37 2 27276797 27276797 + Missense_Mutation SNP C C A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 27276797 27276797 C A SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known missense c.421 p.H141N 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 tier1 - - 58 0 0.00 43 21 32.81 ALG10 0 genome.wustl.edu 37 12 34175557 34175558 + Frame_Shift_Ins INS - - T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 12 34175557 34175558 - T INS ALG10 ENST00000266483 human ensembl 74_37 +1 known frame_shift_ins c.23_24 p.S10fs 0.993:0.983 pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 tier1 104 0 0.00 68 19 21.84 ALMS1 0 genome.wustl.edu 37 2 73718079 73718079 + Missense_Mutation SNP A A C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 73718079 73718079 A C SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.8990 p.N2997T 0.719 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 36 0 0.00 25 8 24.24 ALS2CR11 0 genome.wustl.edu 37 2 202469371 202469371 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 202469371 202469371 G T SNP ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known missense c.281 p.T94K 0.000 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 tier1 - - 72 0 0.00 52 4 7.14 ARHGAP12 0 genome.wustl.edu 37 10 32096465 32096466 + RNA INS - - A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 32096465 32096466 - A INS ARHGAP12 ENST00000492028 human ensembl 74_37 -1 known rna NULL NULL 0.992:0.771 - - - no_errors ARHGAP12 HGNC ENSG00000165322 tier1 43 0 0.00 42 3 6.67 ARMC9 0 genome.wustl.edu 37 2 232081450 232081450 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 232081450 232081450 G T SNP ARMC9 ENST00000349938 human ensembl 74_37 +1 known missense c.448 p.A150S 1.000 NULL superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 63 0 0.00 67 4 5.63 ASB17 0 genome.wustl.edu 37 1 76397722 76397722 + Silent SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 76397722 76397722 A G SNP ASB17 ENST00000284142 human ensembl 74_37 -1 known silent c.255 p.F85 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 tier1 - - 55 0 0.00 38 20 34.48 ASB17 0 genome.wustl.edu 37 1 76397637 76397637 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 76397637 76397637 G A SNP ASB17 ENST00000284142 human ensembl 74_37 -1 known missense c.340 p.L114F 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 38 0 0.00 31 2 6.06 ATRNL1 0 genome.wustl.edu 37 10 116975491 116975491 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 116975491 116975491 C T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.1385 p.A462V 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 47 0 0.00 39 4 9.09 BARX2 0 genome.wustl.edu 37 11 129312648 129312648 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 11 129312648 129312648 G T SNP BARX2 ENST00000531946 human ensembl 74_37 +1 putative missense c.41 p.C14F 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors BARX2 HGNC ENSG00000043039 tier1 - - 40 0 0.00 14 18 56.25 BEND2 0 genome.wustl.edu 37 X 18221727 18221727 + Silent SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 X 18221727 18221727 G T SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known silent c.801 p.S267 0.000 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 tier1 - - 67 0 0.00 44 4 8.33 BMP2K 0 genome.wustl.edu 37 4 79792166 79792166 + Missense_Mutation SNP C C G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 4 79792166 79792166 C G SNP BMP2K ENST00000335016 human ensembl 74_37 +1 known missense c.1461 p.H487Q 0.883 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMP2K HGNC ENSG00000138756 tier1 rs200441916 - 61 0 0.00 51 5 8.77 BSG 0 genome.wustl.edu 37 19 581392 581392 + Silent SNP G G C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 581392 581392 G C SNP BSG ENST00000333511 human ensembl 74_37 +1 known silent c.870 p.L290 0.988 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BSG HGNC ENSG00000172270 tier1 - - 75 0 0.00 60 5 7.69 BTAF1 0 genome.wustl.edu 37 10 93719887 93719887 + Missense_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 93719887 93719887 A G SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known missense c.1239 p.I413M 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 tier1 - - 41 0 0.00 23 15 39.47 C10orf76 0 genome.wustl.edu 37 10 103771512 103771512 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 103771512 103771512 G T SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.799 p.Q267K 1.000 superfamily_ARM-type_fold pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 36 0 0.00 28 2 6.67 C11orf82 0 genome.wustl.edu 37 11 82643985 82643985 + Silent SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 11 82643985 82643985 G T SNP C11orf82 ENST00000430323 human ensembl 74_37 +1 known silent c.1605 p.P535 0.001 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold - no_errors C11orf82 HGNC ENSG00000165490 38 0 0.00 34 2 5.56 C20orf26 0 genome.wustl.edu 37 20 20258012 20258012 + Silent SNP C C A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 20 20258012 20258012 C A SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known silent c.2706 p.I902 0.152 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 tier1 - - 38 0 0.00 30 15 33.33 CARF 0 genome.wustl.edu 37 2 203848307 203848308 + Frame_Shift_Ins INS - - A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 203848307 203848308 - A INS CARF ENST00000320443 human ensembl 74_37 +1 known frame_shift_ins c.2138_2139 p.T716fs 0.949:0.979 NULL NULL - no_errors CARF HGNC ENSG00000138380 tier1 72 0 0.00 53 8 13.11 CCDC171 0 genome.wustl.edu 37 9 15578911 15578911 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 9 15578911 15578911 G T SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.242 p.R81L 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 36 0 0.00 56 3 5.08 CDC20 0 genome.wustl.edu 37 1 43825769 43825770 + Splice_Site INS - - T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 43825769 43825770 - T INS CDC20 ENST00000310955 human ensembl 74_37 +1 known splice_site_ins c.556+1_556+1 e4+1 1.000:1.000 - - - no_errors CDC20 HGNC ENSG00000117399 tier1 42 0 0.00 23 7 23.33 CDH16 0 genome.wustl.edu 37 16 66944394 66944394 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 16 66944394 66944394 G T SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known missense c.1936 p.L646M 0.131 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 tier1 - - 66 0 0.00 40 4 9.09 CDK5RAP2 0 genome.wustl.edu 37 9 123173662 123173662 + Missense_Mutation SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 9 123173662 123173662 T C SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.4388 p.N1463S 0.970 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 - - 43 0 0.00 12 28 70.00 CHODL 0 genome.wustl.edu 37 21 19635169 19635169 + Silent SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 21 19635169 19635169 G A SNP CHODL ENST00000299295 human ensembl 74_37 +1 known silent c.696 p.L232 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CHODL HGNC ENSG00000154645 tier1 - - 67 0 0.00 50 13 20.63 CLVS2 0 genome.wustl.edu 37 6 123376961 123376961 + Missense_Mutation SNP A A C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 6 123376961 123376961 A C SNP CLVS2 ENST00000275162 human ensembl 74_37 +1 known missense c.686 p.H229P 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 tier1 - - 37 0 0.00 19 6 24.00 COL11A2 0 genome.wustl.edu 37 6 33147260 33147260 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 6 33147260 33147260 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.1451 p.A484V 0.998 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 rs143965711 - 74 0 0.00 59 15 20.27 COL22A1 0 genome.wustl.edu 37 8 139768056 139768056 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 8 139768056 139768056 G T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.1919 p.A640E 0.027 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 32 0 0.00 33 2 5.71 COL6A3 0 genome.wustl.edu 37 2 238259828 238259828 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 238259828 238259828 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.6761 p.G2254E 0.935 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 47 0 0.00 25 17 40.48 COL9A1 0 genome.wustl.edu 37 6 70992691 70992691 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 6 70992691 70992691 G A SNP COL9A1 ENST00000320755 human ensembl 74_37 -1 known missense c.65 p.A22V 0.019 NULL pfam_Collagen - no_errors COL9A1 HGNC ENSG00000112280 68 0 0.00 73 5 6.41 CPT1B 0 genome.wustl.edu 37 22 51015018 51015018 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 22 51015018 51015018 G T SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known missense c.508 p.Q170K 1.000 NULL pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 tier1 - - 38 0 0.00 30 4 11.76 CTBS 0 genome.wustl.edu 37 1 85040024 85040024 + Silent SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 85040024 85040024 C T SNP CTBS ENST00000370630 human ensembl 74_37 -1 known silent c.75 p.L25 0.006 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CTBS HGNC ENSG00000117151 14 0 0.00 9 2 18.18 CTNNB1 0 genome.wustl.edu 37 3 41278166 41278166 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 3 41278166 41278166 C T SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.2042 p.S681F 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 tier1 - - 38 0 0.00 23 10 30.30 CWC22 0 genome.wustl.edu 37 2 180843003 180843003 + Silent SNP T T A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 180843003 180843003 T A SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known silent c.495 p.S165 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 tier1 - - 124 0 0.00 96 21 17.95 CYP4F12 0 genome.wustl.edu 37 19 15795665 15795665 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 15795665 15795665 G T SNP CYP4F12 ENST00000324632 human ensembl 74_37 +1 known missense c.958 p.A320S 0.994 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F12 HGNC ENSG00000186204 tier1 - - 52 0 0.00 48 4 7.69 DCAKD 0 genome.wustl.edu 37 17 43101979 43101979 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 17 43101979 43101979 C T SNP DCAKD ENST00000342350 human ensembl 74_37 -1 known missense c.518 p.R173H 0.512 pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors DCAKD HGNC ENSG00000172992 92 0 0.00 68 4 5.56 DDB1 0 genome.wustl.edu 37 11 61091537 61091537 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 11 61091537 61091537 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known missense c.835 p.R279W 0.996 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 tier1 - - 30 0 0.00 29 9 23.68 DDX1 0 genome.wustl.edu 37 2 15768942 15768942 + Silent SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 15768942 15768942 G T SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known silent c.1854 p.L618 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 23 0 0.00 29 4 12.12 DIS3L2 0 genome.wustl.edu 37 2 233198624 233198624 + Silent SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 233198624 233198624 G T SNP DIS3L2 ENST00000325385 human ensembl 74_37 +1 known silent c.2085 p.L695 1.000 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 tier1 - - 74 0 0.00 66 4 5.71 DMXL2 0 genome.wustl.edu 37 15 51773127 51773127 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 15 51773127 51773127 G T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.6176 p.A2059D 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 tier1 - - 43 0 0.00 25 13 34.21 DNAJB1 0 genome.wustl.edu 37 19 14627668 14627668 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 14627668 14627668 G T SNP DNAJB1 ENST00000254322 human ensembl 74_37 -1 known missense c.402 p.F134L 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB1 HGNC ENSG00000132002 tier1 - - 44 0 0.00 52 4 7.14 DNM1P47 0 genome.wustl.edu 37 15 102304638 102304638 + RNA SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 15 102304638 102304638 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors DNM1P47 HGNC ENSG00000259660 12 0 0.00 11 5 31.25 DPY19L3 0 genome.wustl.edu 37 19 32968498 32968498 + Nonsense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 32968498 32968498 G T SNP DPY19L3 ENST00000342179 human ensembl 74_37 +1 known nonsense c.1768 p.G590* 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 tier1 - - 62 0 0.00 52 4 7.14 DST 0 genome.wustl.edu 37 6 56489969 56489969 + Missense_Mutation SNP G G C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 6 56489969 56489969 G C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.4717 p.L1573V 0.441 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 - - 96 0 0.00 73 17 18.89 DUSP10 0 genome.wustl.edu 37 1 221875156 221875157 + RNA INS - - A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 221875156 221875157 - A INS DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.000 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 12 0 0.00 20 4 16.67 ENSG00000221744 0 genome.wustl.edu 37 9 20295035 20295036 + RNA DEL TA TA - TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 9 20295035 20295036 TA 0 DEL ENSG00000221744 ENST00000408817 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.009 - - - no_errors AL512635.1 Clone_based_ensembl_gene ENSG00000221744 11 0 0.00 11 3 21.43 ENSG00000225411 0 genome.wustl.edu 37 9 68400525 68400525 + RNA SNP C C A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 9 68400525 68400525 C A SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.106 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 rs79614538 - 14 0 0.00 15 7 31.82 EPB41L2 0 genome.wustl.edu 37 6 131186736 131186736 + Silent SNP C C G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 6 131186736 131186736 C G SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known silent c.2769 p.L923 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,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 tier1 - - 70 0 0.00 51 28 35.44 EPHA6 0 genome.wustl.edu 37 3 97356914 97356914 + Silent SNP T T G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 3 97356914 97356914 T G SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known silent c.2772 p.A924 0.994 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 45 0 0.00 27 12 30.77 EVC 0 genome.wustl.edu 37 4 5800490 5800490 + Missense_Mutation SNP A A T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 4 5800490 5800490 A T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.2275 p.S759C 0.504 NULL NULL - no_errors EVC HGNC ENSG00000072840 tier1 - - 63 0 0.00 24 15 38.46 EVL 0 genome.wustl.edu 37 14 100594903 100594903 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 14 100594903 100594903 G A SNP EVL ENST00000392920 human ensembl 74_37 +1 known missense c.535 p.V179I 0.586 pirsf_Vasodilator_phosphoprotein pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1 - no_errors EVL HGNC ENSG00000196405 tier1 - - 104 0 0.00 53 5 8.62 F2RL1 0 genome.wustl.edu 37 5 76129237 76129237 + Missense_Mutation SNP C C G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 5 76129237 76129237 C G SNP F2RL1 ENST00000296677 human ensembl 74_37 +1 known missense c.805 p.L269V 0.950 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Pro_rcpt_2,prints_Protea_act_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors F2RL1 HGNC ENSG00000164251 tier1 - - 61 0 0.00 27 3 10.00 FAM135B 0 genome.wustl.edu 37 8 139144986 139144986 + Missense_Mutation SNP C C A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 8 139144986 139144986 C A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.4071 p.K1357N 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 32 0 0.00 28 3 9.68 FAM135B 0 genome.wustl.edu 37 8 139165152 139165152 + Missense_Mutation SNP T T A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 8 139165152 139165152 T A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.1566 p.Q522H 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 43 0 0.00 37 2 5.13 FAM135B 0 genome.wustl.edu 37 8 139380163 139380163 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 8 139380163 139380163 G T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.64 p.L22I 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 24 0 0.00 30 4 11.76 FAM194A 0 genome.wustl.edu 37 3 150421519 150421519 + Missense_Mutation SNP A A T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 3 150421519 150421519 A T SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known missense c.167 p.V56E 0.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 tier1 - - 26 0 0.00 37 5 11.63 FAM214B 0 genome.wustl.edu 37 9 35106621 35106621 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 9 35106621 35106621 G A SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known missense c.973 p.R325W 1.000 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 tier1 - - 82 0 0.00 37 30 44.78 FAM220A 0 genome.wustl.edu 37 7 6370735 6370735 + Missense_Mutation SNP C C A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 6370735 6370735 C A SNP FAM220A ENST00000313324 human ensembl 74_37 -1 known missense c.51 p.Q17H 0.000 NULL NULL - no_errors FAM220A HGNC ENSG00000178397 tier1 - - 54 0 0.00 25 7 21.88 FANCA 0 genome.wustl.edu 37 16 89877149 89877149 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 16 89877149 89877149 C T SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.488 p.R163H 0.946 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 48 0 0.00 39 3 7.14 FBXL13 0 genome.wustl.edu 37 7 102462523 102462523 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 102462523 102462523 C T SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known missense c.1982 p.R661Q 1.000 smart_Leu-rich_rpt_Cys-con_subtyp smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 69 0 0.00 84 5 5.62 FETUB 0 genome.wustl.edu 37 3 186364101 186364101 + Missense_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 3 186364101 186364101 A G SNP FETUB ENST00000265029 human ensembl 74_37 +1 known missense c.659 p.Q220R 0.005 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 55 0 0.00 75 4 5.06 FLNC 0 genome.wustl.edu 37 7 128486412 128486412 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 128486412 128486412 G T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.4022 p.R1341L 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 23 0 0.00 19 2 9.52 FMN1 0 genome.wustl.edu 37 15 33261259 33261259 + Silent SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 15 33261259 33261259 G A SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known silent c.1974 p.L658 0.000 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 27 0 0.00 45 4 8.16 FOLH1 0 genome.wustl.edu 37 11 49175427 49175427 + Silent SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 11 49175427 49175427 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.1941 p.S647 0.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 42 0 0.00 26 3 10.34 FREM1 0 genome.wustl.edu 37 9 14806713 14806713 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 9 14806713 14806713 C T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.3223 p.E1075K 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 49 0 0.00 44 4 8.33 FXR1 0 genome.wustl.edu 37 3 180652996 180652996 + Missense_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 3 180652996 180652996 A G SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known missense c.175 p.I59V 1.000 pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 tier1 - - 94 0 0.00 69 48 41.03 GEMIN4 0 genome.wustl.edu 37 17 650493 650493 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 17 650493 650493 C T SNP GEMIN4 ENST00000319004 human ensembl 74_37 -1 known missense c.790 p.V264M 0.000 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 38 0 0.00 34 2 5.56 GPAM 0 genome.wustl.edu 37 10 113913356 113913356 + Silent SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 113913356 113913356 G A SNP GPAM ENST00000348367 human ensembl 74_37 -1 known silent c.2439 p.C813 0.999 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 tier1 - - 21 0 0.00 13 3 18.75 GPR124 0 genome.wustl.edu 37 8 37688970 37688970 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 8 37688970 37688970 G T SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.962 p.W321L 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 61 0 0.00 28 3 9.68 GPR125 0 genome.wustl.edu 37 4 22390753 22390753 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 4 22390753 22390753 G T SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known missense c.2681 p.A894E 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 tier1 - - 30 0 0.00 17 3 15.00 GPR156 0 genome.wustl.edu 37 3 119886565 119886565 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 3 119886565 119886565 G A SNP GPR156 ENST00000315843 human ensembl 74_37 -1 known missense c.1759 p.P587S 0.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 tier1 - - 78 0 0.00 90 5 5.26 GPR158 0 genome.wustl.edu 37 10 25889362 25889363 + RNA INS - - A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 25889362 25889363 - A INS GPR158 ENST00000490549 human ensembl 74_37 +1 known rna NULL NULL 0.627:0.417 - - - no_errors GPR158 HGNC ENSG00000151025 tier1 9 0 0.00 3 2 40.00 GPR161 0 genome.wustl.edu 37 1 168066118 168066118 + Missense_Mutation SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 168066118 168066118 T C SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known missense c.787 p.S263G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 tier1 - - 26 0 0.00 24 4 14.29 GRM3 0 genome.wustl.edu 37 7 86394858 86394858 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 86394858 86394858 G T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.397 p.A133S 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,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 - - 39 0 0.00 30 4 11.76 HEMGN 0 genome.wustl.edu 37 9 100692787 100692787 + Missense_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 9 100692787 100692787 A G SNP HEMGN ENST00000259456 human ensembl 74_37 -1 known missense c.890 p.L297P 0.004 NULL NULL - no_errors HEMGN HGNC ENSG00000136929 36 0 0.00 55 3 5.17 HNRNPA1L2 0 genome.wustl.edu 37 13 53217214 53217214 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 13 53217214 53217214 G A SNP HNRNPA1L2 ENST00000342657 human ensembl 74_37 +1 known missense c.587 p.R196Q 0.124 NULL pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1L2 HGNC ENSG00000139675 tier1 - - 58 0 0.00 33 4 10.81 HP 0 genome.wustl.edu 37 16 72094632 72094632 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 16 72094632 72094632 C T SNP HP ENST00000355906 human ensembl 74_37 +1 known missense c.1064 p.A355V 0.998 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HP HGNC ENSG00000257017 tier1 - - 80 0 0.00 62 19 23.46 HP1BP3 0 genome.wustl.edu 37 1 21076484 21076484 + RNA SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 21076484 21076484 T C SNP HP1BP3 ENST00000491748 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HP1BP3 HGNC ENSG00000127483 tier1 - - 13 0 0.00 6 4 40.00 HRH2 0 genome.wustl.edu 37 5 175110302 175110302 + Silent SNP C C A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 5 175110302 175110302 C A SNP HRH2 ENST00000377291 human ensembl 74_37 +1 known silent c.66 p.T22 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 83 0 0.00 57 3 5.00 IKZF3 0 genome.wustl.edu 37 17 37922218 37922218 + Missense_Mutation SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 17 37922218 37922218 T C SNP IKZF3 ENST00000346872 human ensembl 74_37 -1 known missense c.1355 p.Y452C 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF3 HGNC ENSG00000161405 tier1 - - 36 0 0.00 32 20 38.46 IL21R 0 genome.wustl.edu 37 16 27460100 27460100 + Silent SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 16 27460100 27460100 C T SNP IL21R ENST00000337929 human ensembl 74_37 +1 known silent c.1113 p.Y371 0.010 NULL superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 26 0 0.00 26 2 7.14 IL4R 0 genome.wustl.edu 37 16 27373610 27373610 + Missense_Mutation SNP T T G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 16 27373610 27373610 T G SNP IL4R ENST00000170630 human ensembl 74_37 +1 known missense c.937 p.F313V 0.934 NULL pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 tier1 - - 56 0 0.00 47 25 34.72 IRF2BPL 0 genome.wustl.edu 37 14 77492226 77492226 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 14 77492226 77492226 G A SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known missense c.1910 p.A637V 0.996 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 tier1 - - 44 0 0.00 35 4 10.26 ITGA5 0 genome.wustl.edu 37 12 54795803 54795803 + Silent SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 12 54795803 54795803 G A SNP ITGA5 ENST00000293379 human ensembl 74_37 -1 known silent c.2208 p.P736 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 tier1 - - 37 0 0.00 37 9 19.57 ITGB1 0 genome.wustl.edu 37 10 33209186 33209186 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 33209186 33209186 G A SNP ITGB1 ENST00000374956 human ensembl 74_37 -1 known missense c.1256 p.S419F 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 tier1 - - 35 0 0.00 17 4 19.05 KCNA7 0 genome.wustl.edu 37 19 49573965 49573965 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 49573965 49573965 C T SNP KCNA7 ENST00000221444 human ensembl 74_37 -1 known missense c.726 p.M242I 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 tier1 - - 54 0 0.00 48 17 26.15 KCNJ8 0 genome.wustl.edu 37 12 21918742 21918742 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 12 21918742 21918742 G T SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known missense c.1190 p.S397Y 1.000 pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 45 0 0.00 31 3 8.82 KCTD9 0 genome.wustl.edu 37 8 25297211 25297211 + RNA SNP C C A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 8 25297211 25297211 C A SNP KCTD9 ENST00000518067 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KCTD9 HGNC ENSG00000104756 tier1 - - 45 0 0.00 19 13 40.62 KIAA1715 0 genome.wustl.edu 37 2 176804367 176804367 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 176804367 176804367 G T SNP KIAA1715 ENST00000544803 human ensembl 74_37 -1 known missense c.818 p.P273Q 1.000 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 tier1 - - 35 0 0.00 22 3 12.00 KIAA1875 0 genome.wustl.edu 37 8 145169799 145169799 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 8 145169799 145169799 G T SNP KIAA1875 ENST00000323662 human ensembl 74_37 +1 putative missense c.4062 p.M1354I 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1875 HGNC ENSG00000179698 tier1 - - 74 0 0.00 70 4 5.41 KIF26A 0 genome.wustl.edu 37 14 104639512 104639512 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 14 104639512 104639512 G A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.1619 p.G540D 1.000 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,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 42 0 0.00 36 4 10.00 KIF6 0 genome.wustl.edu 37 6 39693181 39693181 + RNA SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 6 39693181 39693181 C T SNP KIF6 ENST00000482238 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KIF6 HGNC ENSG00000164627 tier1 - - 29 0 0.00 18 4 18.18 KLF17 0 genome.wustl.edu 37 1 44596234 44596234 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 44596234 44596234 C T SNP KLF17 ENST00000372299 human ensembl 74_37 +1 known missense c.976 p.R326C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF17 HGNC ENSG00000171872 tier1 - - 57 0 0.00 41 12 22.64 KLK11 0 genome.wustl.edu 37 19 51525866 51525866 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 51525866 51525866 G A SNP KLK11 ENST00000594768 human ensembl 74_37 -1 known missense c.784 p.P262S 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK11 HGNC ENSG00000167757 tier1 - - 27 0 0.00 42 4 8.70 LCA5L 0 genome.wustl.edu 37 21 40783654 40783654 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 21 40783654 40783654 G T SNP LCA5L ENST00000288350 human ensembl 74_37 -1 known missense c.1050 p.D350E 0.521 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 tier1 - - 81 0 0.00 64 4 5.88 LGALS9 0 genome.wustl.edu 37 17 25974143 25974143 + Missense_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 17 25974143 25974143 A G SNP LGALS9 ENST00000395473 human ensembl 74_37 +1 known missense c.757 p.R253G 0.014 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9 HGNC ENSG00000168961 tier1 - - 56 0 0.00 54 4 6.78 LOC101927723 0 genome.wustl.edu 37 2 68592603 68592603 + RNA SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 68592603 68592603 G A SNP LOC101927723 ENST00000366218 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015969.3 Clone_based_vega_gene ENSG00000203395 tier1 - - 60 0 0.00 37 5 11.90 LOC730441 0 genome.wustl.edu 37 7 141969660 141969660 + RNA SNP T T A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 141969660 141969660 T A SNP LOC730441 ENST00000334288 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors U66059.29 Clone_based_vega_gene ENSG00000186163 tier1 - - 74 0 0.00 60 4 6.25 LRRC41 0 genome.wustl.edu 37 1 46746081 46746081 + Silent SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 46746081 46746081 C T SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known silent c.1908 p.L636 0.946 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 tier1 - - 86 0 0.00 60 4 6.25 LRRN3 0 genome.wustl.edu 37 7 110763811 110763811 + Missense_Mutation SNP A A T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 110763811 110763811 A T SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.983 p.N328I 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 63 0 0.00 39 3 7.14 LSMEM1 0 genome.wustl.edu 37 7 112126359 112126359 + RNA SNP C C G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 112126359 112126359 C G SNP LSMEM1 ENST00000486022 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors LSMEM1 HGNC ENSG00000181016 tier1 - - 27 0 0.00 50 4 7.41 LSMEM1 0 genome.wustl.edu 37 7 112126404 112126404 + RNA SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 112126404 112126404 C T SNP LSMEM1 ENST00000486022 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors LSMEM1 HGNC ENSG00000181016 tier1 - - 52 0 0.00 57 10 14.93 LSMEM1 0 genome.wustl.edu 37 7 112126913 112126913 + RNA SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 112126913 112126913 C T SNP LSMEM1 ENST00000471030 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors LSMEM1 HGNC ENSG00000181016 tier1 - - 78 0 0.00 61 10 13.89 MAGEE1 0 genome.wustl.edu 37 X 75648924 75648924 + Silent SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 X 75648924 75648924 C T SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known silent c.601 p.L201 0.020 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 tier1 - - 36 0 0.00 18 3 14.29 MBD2 0 genome.wustl.edu 37 18 51750584 51750585 + In_Frame_Ins INS - - GCC TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 18 51750584 51750585 - GCC INS MBD2 ENST00000256429 human ensembl 74_37 -1 known in_frame_ins c.346_345 p.115in_frame_insG 0.957:0.926 NULL pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD2 HGNC ENSG00000134046 tier1 11 0 0.00 2 2 50.00 MIR663A 0 genome.wustl.edu 37 20 26188852 26188852 + RNA SNP C C A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 20 26188852 26188852 C A SNP MIR663A ENST00000385250 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors MIR663A HGNC ENSG00000227195 tier1 - - 11 0 0.00 11 6 35.29 MKL1 0 genome.wustl.edu 37 22 40816962 40816962 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 22 40816962 40816962 G A SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known missense c.770 p.S257L 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 tier1 - - 58 0 0.00 75 7 8.54 MT-CO1 0 genome.wustl.edu 37 MT 7003 7003 + Missense_Mutation SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 MT 7003 7003 T C SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.1100 p.L367P NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 44 0 0.00 10 2 16.67 MT-ND5 0 genome.wustl.edu 37 MT 13062 13062 + Silent SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 MT 13062 13062 A G SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known silent c.726 p.P242 NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 rs28670513 - 34 0 0.00 5 2 28.57 MT-RNR2 0 genome.wustl.edu 37 MT 1987 1987 + RNA SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 MT 1987 1987 G T SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 67 0 0.00 15 2 11.76 MT-TQ 0 genome.wustl.edu 37 MT 4357 4357 + RNA SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 MT 4357 4357 T C SNP MT-TQ ENST00000387372 human ensembl 74_37 -1 known rna NULL NULL NULL - - - no_errors MT-TQ HGNC ENSG00000210107 tier1 - - 28 0 0.00 5 2 28.57 MUC12 0 genome.wustl.edu 37 7 100645478 100645478 + Silent SNP T T G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 100645478 100645478 T G SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known silent c.11634 p.G3878 0.006 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 9 0 0.00 12 9 40.91 MUC16 0 genome.wustl.edu 37 19 9018487 9018487 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 9018487 9018487 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.37687 p.R12563C 0.000 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 130 0 0.00 84 7 7.69 MUC16 0 genome.wustl.edu 37 19 9018524 9018524 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 9018524 9018524 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.37650 p.F12550L 1.000 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 116 0 0.00 85 6 6.59 MYH7 0 genome.wustl.edu 37 14 23900828 23900828 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 14 23900828 23900828 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.698 p.A233V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 76 0 0.00 56 4 6.67 MYOM2 0 genome.wustl.edu 37 8 2021562 2021562 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 8 2021562 2021562 G T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.1102 p.A368S 1.000 pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub 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 MYOM2 HGNC ENSG00000036448 39 0 0.00 35 2 5.41 NBEA 0 genome.wustl.edu 37 13 36241657 36241657 + Missense_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 13 36241657 36241657 A G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.8548 p.S2850G 1.000 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 73 0 0.00 63 4 5.97 NOD1 0 genome.wustl.edu 37 7 30477261 30477261 + Missense_Mutation SNP T T A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 30477261 30477261 T A SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known missense c.2465 p.N822I 0.980 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 NOD1 HGNC ENSG00000106100 tier1 - - 62 0 0.00 29 14 32.56 NPAT 0 genome.wustl.edu 37 11 108044483 108044483 + Nonsense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 11 108044483 108044483 G A SNP NPAT ENST00000278612 human ensembl 74_37 -1 known nonsense c.1228 p.Q410* 0.015 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 63 0 0.00 50 3 5.66 NPR2 0 genome.wustl.edu 37 9 35792937 35792937 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 9 35792937 35792937 C T SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.532 p.R178W 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 tier1 - - 27 0 0.00 28 4 12.50 NRXN1 0 genome.wustl.edu 37 2 50148604 50148604 + RNA SNP G G C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 50148604 50148604 G C SNP NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.773 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 60 0 0.00 41 14 25.00 OBSCN 0 genome.wustl.edu 37 1 228527712 228527712 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 228527712 228527712 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.17325 p.Q5775H 0.944 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 17 0 0.00 20 7 25.93 OR2G6 0 genome.wustl.edu 37 1 248685672 248685672 + Nonsense_Mutation SNP C C A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 248685672 248685672 C A SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known nonsense c.725 p.S242* 0.000 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 OR2G6 HGNC ENSG00000188558 tier1 - - 60 0 0.00 54 4 6.90 OR51E2 0 genome.wustl.edu 37 11 4703783 4703783 + Silent SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 11 4703783 4703783 G A SNP OR51E2 ENST00000396950 human ensembl 74_37 -1 known silent c.159 p.S53 0.974 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 OR51E2 HGNC ENSG00000167332 tier1 - - 65 0 0.00 41 4 8.89 OR5AP2 0 genome.wustl.edu 37 11 56409727 56409727 + Silent SNP G G C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 11 56409727 56409727 G C SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known silent c.192 p.T64 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AP2 HGNC ENSG00000172464 tier1 - - 21 0 0.00 25 5 16.67 OR5I1 0 genome.wustl.edu 37 11 55703513 55703513 + Missense_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 11 55703513 55703513 A G SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known missense c.364 p.Y122H 0.638 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 OR5I1 HGNC ENSG00000167825 29 0 0.00 25 2 7.41 OSBPL1A 0 genome.wustl.edu 37 18 21746587 21746587 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 18 21746587 21746587 C T SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.2615 p.C872Y 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 75 0 0.00 28 2 6.67 OVCH1 0 genome.wustl.edu 37 12 29627998 29627998 + Silent SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 12 29627998 29627998 G T SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known silent c.1596 p.P532 0.001 superfamily_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 tier1 - - 54 0 0.00 56 4 6.67 PAN3 0 genome.wustl.edu 37 13 28750681 28750681 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 13 28750681 28750681 C T SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.604 p.P202S 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 tier1 - - 65 0 0.00 59 4 6.35 PANK3 0 genome.wustl.edu 37 5 167988397 167988397 + Splice_Site SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 5 167988397 167988397 C T SNP PANK3 ENST00000239231 human ensembl 74_37 -1 known splice_site c.936+1 e5+1 1.000 - - - no_errors PANK3 HGNC ENSG00000120137 38 0 0.00 56 3 5.00 PCDH11X 0 genome.wustl.edu 37 X 91873845 91873845 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 X 91873845 91873845 C T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3950 p.S1317L 0.998 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 87 0 0.00 53 25 32.05 PCLO 0 genome.wustl.edu 37 7 82583352 82583352 + Missense_Mutation SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 82583352 82583352 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.6917 p.K2306R 0.229 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 66 0 0.00 49 12 19.67 PCSK7 0 genome.wustl.edu 37 11 117089269 117089269 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 11 117089269 117089269 G T SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known missense c.1447 p.P483T 1.000 superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 tier1 - - 38 0 0.00 19 3 13.64 PDE8A 0 genome.wustl.edu 37 15 85619146 85619146 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 15 85619146 85619146 G A SNP PDE8A ENST00000310298 human ensembl 74_37 +1 known missense c.488 p.R163H 1.000 pfam_Sig_transdc_resp-reg_receiver,superfamily_CheY-like_superfamily pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 tier1 - - 66 0 0.00 60 4 6.25 PDGFRA 0 genome.wustl.edu 37 4 55146650 55146650 + Splice_Site SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 4 55146650 55146650 G A SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known splice_site c.2323+1 e15+1 1.000 - - - no_errors PDGFRA HGNC ENSG00000134853 tier1 - - 63 0 0.00 30 4 11.76 PLEKHA3 0 genome.wustl.edu 37 2 179355543 179355543 + Splice_Site SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 179355543 179355543 T C SNP PLEKHA3 ENST00000234453 human ensembl 74_37 +1 known splice_site c.313+2 e3+2 1.000 - - - no_errors PLEKHA3 HGNC ENSG00000116095 tier1 - - 32 0 0.00 27 10 27.03 PLXNA2 0 genome.wustl.edu 37 1 208252790 208252790 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 208252790 208252790 G T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.2401 p.L801I 1.000 superfamily_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 19 0 0.00 31 5 13.89 PMEPA1 0 genome.wustl.edu 37 20 56284579 56284579 + Silent SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 20 56284579 56284579 G A SNP PMEPA1 ENST00000341744 human ensembl 74_37 -1 known silent c.60 p.V20 1.000 NULL NULL - no_errors PMEPA1 HGNC ENSG00000124225 tier1 - - 71 0 0.00 48 17 26.15 PPP1R13B 0 genome.wustl.edu 37 14 104206296 104206296 + Missense_Mutation SNP G G C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 14 104206296 104206296 G C SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known missense c.2457 p.D819E 0.127 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 36 0 0.00 35 2 5.41 PPP1R2 0 genome.wustl.edu 37 3 195251628 195251628 + Missense_Mutation SNP G G C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 3 195251628 195251628 G C SNP PPP1R2 ENST00000328432 human ensembl 74_37 -1 known missense c.297 p.I99M 0.132 pfam_PPI-2 pfam_PPI-2 - no_errors PPP1R2 HGNC ENSG00000184203 tier1 - - 52 0 0.00 34 32 48.48 PRDM10 0 genome.wustl.edu 37 11 129827734 129827734 + Missense_Mutation SNP C C A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 11 129827734 129827734 C A SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.141 p.Q47H 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 35 0 0.00 39 4 9.30 PRPF4 0 genome.wustl.edu 37 9 116038865 116038865 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 9 116038865 116038865 C T SNP PRPF4 ENST00000374198 human ensembl 74_37 +1 known missense c.68 p.P23L 0.995 NULL pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 tier1 - - 47 0 0.00 52 4 7.14 PRR16 0 genome.wustl.edu 37 5 120022157 120022157 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 5 120022157 120022157 G T SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known missense c.668 p.R223L 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 29 0 0.00 28 2 6.45 PRRT1 0 genome.wustl.edu 37 6 32118208 32118208 + Silent SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 6 32118208 32118208 C T SNP PRRT1 ENST00000211413 human ensembl 74_37 -1 known silent c.495 p.A165 0.806 NULL pfam_CD225/Dispanin_fam - no_errors PRRT1 HGNC ENSG00000204314 17 0 0.00 13 12 48.00 PSMD1 0 genome.wustl.edu 37 2 231927025 231927025 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 231927025 231927025 G T SNP PSMD1 ENST00000308696 human ensembl 74_37 +1 known missense c.124 p.V42L 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 39 0 0.00 25 2 7.41 PTGR2 0 genome.wustl.edu 37 14 74325551 74325551 + RNA SNP T T A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 14 74325551 74325551 T A SNP PTGR2 ENST00000553326 human ensembl 74_37 +1 known rna NULL NULL 0.057 - - - no_errors PTGR2 HGNC ENSG00000140043 tier1 - - 89 0 0.00 68 4 5.56 PTPN6 0 genome.wustl.edu 37 12 7064025 7064025 + Silent SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 12 7064025 7064025 C T SNP PTPN6 ENST00000456013 human ensembl 74_37 +1 known silent c.384 p.G128 0.027 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN6 HGNC ENSG00000111679 tier1 - - 56 0 0.00 42 4 8.70 PTPRM 0 genome.wustl.edu 37 18 7955355 7955355 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 18 7955355 7955355 G T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.1075 p.G359W 0.997 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_Immunoglobulin,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 PTPRM HGNC ENSG00000173482 tier1 - - 49 0 0.00 49 4 7.55 PTPRM 0 genome.wustl.edu 37 18 8314802 8314802 + Nonsense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 18 8314802 8314802 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known nonsense c.2869 p.Q957* 1.000 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_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,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 PTPRM HGNC ENSG00000173482 tier1 - - 53 0 0.00 54 4 6.90 PTX4 0 genome.wustl.edu 37 16 1537581 1537581 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 16 1537581 1537581 C T SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known missense c.532 p.A178T 0.001 NULL pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 83 0 0.00 57 4 6.56 R3HCC1L 0 genome.wustl.edu 37 10 100003861 100003861 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 100003861 100003861 G T SNP R3HCC1L ENST00000370584 human ensembl 74_37 +1 known missense c.2283 p.L761F 0.997 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 55 0 0.00 49 4 7.55 RBM46 0 genome.wustl.edu 37 4 155718963 155718963 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 4 155718963 155718963 G T SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known missense c.152 p.G51V 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 tier1 - - 40 0 0.00 17 3 15.00 RELB 0 genome.wustl.edu 37 19 45528625 45528625 + Missense_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 45528625 45528625 A G SNP RELB ENST00000221452 human ensembl 74_37 +1 known missense c.701 p.E234G 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 tier1 - - 55 0 0.00 39 4 9.30 RIN2 0 genome.wustl.edu 37 20 19956307 19956307 + Silent SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 20 19956307 19956307 C T SNP RIN2 ENST00000255006 human ensembl 74_37 +1 known silent c.1785 p.C595 1.000 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 64 0 0.00 45 3 6.25 ROCK1 0 genome.wustl.edu 37 18 18547850 18547850 + Missense_Mutation SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 18 18547850 18547850 T C SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known missense c.3055 p.R1019G 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 tier1 - - 50 0 0.00 41 18 30.51 RP1 0 genome.wustl.edu 37 8 55542624 55542624 + Missense_Mutation SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 8 55542624 55542624 T C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.6182 p.I2061T 0.104 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 43 0 0.00 29 12 29.27 RPL37A 0 genome.wustl.edu 37 2 217364062 217364062 + Missense_Mutation SNP A A T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 217364062 217364062 A T SNP RPL37A ENST00000491306 human ensembl 74_37 +1 known missense c.73 p.M25L 1.000 pfam_Ribosomal_L37ae,superfamily_Ribosomal_zn-bd,tigrfam_Ribosomal_L37ae pfam_Ribosomal_L37ae,superfamily_Ribosomal_zn-bd,tigrfam_Ribosomal_L37ae - no_errors RPL37A HGNC ENSG00000197756 tier1 - - 30 0 0.00 26 6 18.75 RYR2 0 genome.wustl.edu 37 1 237608790 237608790 + Silent SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 237608790 237608790 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.1254 p.R418 0.993 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 68 0 0.00 72 4 5.26 SBNO2 0 genome.wustl.edu 37 19 1127692 1127692 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 1127692 1127692 C T SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known missense c.352 p.V118M 0.043 NULL superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 tier1 - - 67 0 0.00 47 4 7.84 SCN10A 0 genome.wustl.edu 37 3 38738994 38738994 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 3 38738994 38738994 G T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.5717 p.P1906Q 0.898 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 53 0 0.00 38 4 9.52 SDHD 0 genome.wustl.edu 37 11 111965683 111965683 + Missense_Mutation SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 11 111965683 111965683 T C SNP SDHD ENST00000375549 human ensembl 74_37 +1 known missense c.469 p.W157R 1.000 pfam_CybS pfam_CybS - no_errors SDHD HGNC ENSG00000204370 tier1 - - 192 0 0.00 136 12 8.11 SEC14L2 0 genome.wustl.edu 37 22 30811777 30811777 + Missense_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 22 30811777 30811777 A G SNP SEC14L2 ENST00000312932 human ensembl 74_37 +1 known missense c.694 p.I232V 0.470 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L2 HGNC ENSG00000100003 tier1 - - 29 0 0.00 6 5 45.45 SEC1P 0 genome.wustl.edu 37 19 49176486 49176486 + RNA SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 49176486 49176486 G T SNP SEC1P ENST00000430145 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SEC1P HGNC ENSG00000232871 tier1 - - 36 0 0.00 37 4 9.76 SEH1L 0 genome.wustl.edu 37 18 12955479 12955479 + Silent SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 18 12955479 12955479 A G SNP SEH1L ENST00000399892 human ensembl 74_37 +1 known silent c.180 p.V60 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SEH1L HGNC ENSG00000085415 tier1 rs140218685 - 74 0 0.00 60 18 23.08 SERINC3 0 genome.wustl.edu 37 20 43133460 43133460 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 20 43133460 43133460 C T SNP SERINC3 ENST00000255175 human ensembl 74_37 -1 known missense c.856 p.A286T 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 53 0 0.00 45 4 8.16 SERTAD3 0 genome.wustl.edu 37 19 40947446 40947446 + Missense_Mutation SNP C C G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 40947446 40947446 C G SNP SERTAD3 ENST00000322354 human ensembl 74_37 -1 known missense c.542 p.W181S 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD3 HGNC ENSG00000167565 tier1 - - 39 0 0.00 24 7 22.58 SHCBP1 0 genome.wustl.edu 37 16 46650016 46650016 + Silent SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 16 46650016 46650016 T C SNP SHCBP1 ENST00000303383 human ensembl 74_37 -1 known silent c.438 p.E146 0.036 NULL superfamily_Pectin_lyase_fold/virulence,smart_PbH1 - no_errors SHCBP1 HGNC ENSG00000171241 tier1 - - 39 0 0.00 39 9 18.75 SHMT2 0 genome.wustl.edu 37 12 57626051 57626051 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 12 57626051 57626051 C T SNP SHMT2 ENST00000393827 human ensembl 74_37 +1 known missense c.254 p.S85L 0.973 pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 58 0 0.00 37 3 7.50 SHROOM4 0 genome.wustl.edu 37 X 50381301 50381301 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 X 50381301 50381301 C T SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.277 p.A93T 0.884 superfamily_PDZ pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 tier1 rs145605338 - 65 0 0.00 37 5 11.90 SKI 0 genome.wustl.edu 37 1 2237626 2237626 + Silent SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 2237626 2237626 G A SNP SKI ENST00000378536 human ensembl 74_37 +1 known silent c.1935 p.R645 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 49 0 0.00 40 4 9.09 SLC30A8 0 genome.wustl.edu 37 8 118175721 118175721 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 8 118175721 118175721 G T SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known missense c.781 p.A261S 0.998 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 57 0 0.00 38 3 7.32 SLC41A2 0 genome.wustl.edu 37 12 105199022 105199022 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 12 105199022 105199022 C T SNP SLC41A2 ENST00000258538 human ensembl 74_37 -1 known missense c.1630 p.A544T 1.000 pfam_SLC41_membr_dom pfam_SLC41_membr_dom - no_errors SLC41A2 HGNC ENSG00000136052 47 0 0.00 38 2 5.00 SLC5A10 0 genome.wustl.edu 37 17 18862953 18862953 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 17 18862953 18862953 G T SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known missense c.325 p.V109L 0.996 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 tier1 - - 37 0 0.00 18 4 18.18 SLC8A2 0 genome.wustl.edu 37 19 47969220 47969220 + Silent SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 47969220 47969220 G T SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known silent c.441 p.V147 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 tier1 - - 37 0 0.00 30 4 11.76 SLC9A4 0 genome.wustl.edu 37 2 103095550 103095550 + Frame_Shift_Del DEL C C - TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 103095550 103095550 C - DEL SLC9A4 ENST00000295269 human ensembl 74_37 +1 known frame_shift_del c.509 p.L171fs 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 tier1 50 0 0.00 27 5 15.62 SMC3 0 genome.wustl.edu 37 10 112362581 112362581 + Splice_Site SNP A A T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 112362581 112362581 A T SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known splice_site c.3298-2 e27-2 0.998 - - - no_errors SMC3 HGNC ENSG00000108055 37 0 0.00 33 3 8.33 SORCS1 0 genome.wustl.edu 37 10 108412176 108412176 + Missense_Mutation SNP T T A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 108412176 108412176 T A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.2439 p.Q813H 0.997 pfam_PKD_dom,superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 68 0 0.00 57 3 5.00 SPATA31D1 0 genome.wustl.edu 37 9 84608684 84608684 + Missense_Mutation SNP T T C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 9 84608684 84608684 T C SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.3299 p.V1100A 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 74 0 0.00 57 4 6.56 SPOCD1 0 genome.wustl.edu 37 1 32267288 32267288 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 32267288 32267288 G T SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.1402 p.H468N 0.050 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 40 0 0.00 36 2 5.26 SPTA1 0 genome.wustl.edu 37 1 158651381 158651381 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 158651381 158651381 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.467 p.R156Q 0.995 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 63 0 0.00 46 15 24.59 SREK1 0 genome.wustl.edu 37 5 65476614 65476614 + RNA SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 5 65476614 65476614 A G SNP SREK1 ENST00000284041 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SREK1 HGNC ENSG00000153914 tier1 - - 24 0 0.00 10 14 58.33 STIL 0 genome.wustl.edu 37 1 47748120 47748120 + Missense_Mutation SNP T T A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 47748120 47748120 T A SNP STIL ENST00000371877 human ensembl 74_37 -1 known missense c.1145 p.K382M 0.144 NULL NULL - no_errors STIL HGNC ENSG00000123473 67 0 0.00 69 4 5.48 STK38 0 genome.wustl.edu 37 6 36483136 36483136 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 6 36483136 36483136 G T SNP STK38 ENST00000229812 human ensembl 74_37 -1 known missense c.648 p.D216E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors STK38 HGNC ENSG00000112079 53 0 0.00 42 3 6.67 SUMF1 0 genome.wustl.edu 37 3 4458863 4458863 + Silent SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 3 4458863 4458863 G T SNP SUMF1 ENST00000448413 human ensembl 74_37 -1 known silent c.789 p.G263 0.994 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF1 HGNC ENSG00000144455 tier1 - - 49 0 0.00 28 6 17.65 SUPT6H 0 genome.wustl.edu 37 17 27020751 27020751 + Missense_Mutation SNP A A T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 17 27020751 27020751 A T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.3671 p.Q1224L 1.000 smart_RNA-binding_domain_S1,pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 tier1 - - 57 0 0.00 41 7 14.58 TFPI 0 genome.wustl.edu 37 2 188343494 188343494 + Missense_Mutation SNP G G C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 188343494 188343494 G C SNP TFPI ENST00000339091 human ensembl 74_37 -1 known missense c.665 p.A222G 1.000 pirsf_Prot_inhib_I2_TFPI pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI HGNC ENSG00000003436 54 0 0.00 56 3 5.08 TGFBR2 0 genome.wustl.edu 37 3 30691784 30691784 + Missense_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 3 30691784 30691784 A G SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.361 p.T121A 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 - - 41 0 0.00 14 10 41.67 TLL2 0 genome.wustl.edu 37 10 98136519 98136519 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 98136519 98136519 G T SNP TLL2 ENST00000357947 human ensembl 74_37 -1 known missense c.2378 p.P793H 1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors TLL2 HGNC ENSG00000095587 82 0 0.00 76 4 5.00 TMC5 0 genome.wustl.edu 37 16 19451843 19451843 + Silent SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 16 19451843 19451843 G A SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known silent c.483 p.P161 0.992 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 tier1 - - 33 0 0.00 16 6 27.27 TMEM5 0 genome.wustl.edu 37 12 64173952 64173952 + RNA SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 12 64173952 64173952 G A SNP TMEM5 ENST00000537982 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM5 HGNC ENSG00000118600 tier1 - - 40 0 0.00 27 4 12.90 TOP3B 0 genome.wustl.edu 37 22 22326273 22326273 + Missense_Mutation SNP C C A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 22 22326273 22326273 C A SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.360 p.K120N 0.998 pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,prints_Topo_IA pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 65 0 0.00 47 4 7.84 TOPORS 0 genome.wustl.edu 37 9 32543771 32543771 + Missense_Mutation SNP T T A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 9 32543771 32543771 T A SNP TOPORS ENST00000360538 human ensembl 74_37 -1 known missense c.752 p.Q251L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 tier1 - - 34 0 0.00 9 12 57.14 TP53 0 genome.wustl.edu 37 17 7578469 7578469 + Frame_Shift_Del DEL C C - TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 17 7578469 7578469 C - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.461 p.G154fs 0.872 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 34 0 0.00 14 7 33.33 TP53 0 genome.wustl.edu 37 17 7579406 7579406 + Nonsense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 17 7579406 7579406 G T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.281 p.S94* 1.000 NULL 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 - - 95 0 0.00 73 16 17.98 TPMT 0 genome.wustl.edu 37 6 18130964 18130964 + Missense_Mutation SNP C C G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 6 18130964 18130964 C G SNP TPMT ENST00000309983 human ensembl 74_37 -1 known missense c.673 p.E225Q 1.000 pfam_TPMT,pirsf_Thiopurine_S-MeTrfase pfam_TPMT,pirsf_Thiopurine_S-MeTrfase - no_errors TPMT HGNC ENSG00000137364 tier1 - - 68 0 0.00 40 7 14.89 TPPP3 0 genome.wustl.edu 37 16 67425008 67425008 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 16 67425008 67425008 C T SNP TPPP3 ENST00000290942 human ensembl 74_37 -1 known missense c.7 p.A3T 0.102 NULL pfam_P25-alpha - no_errors TPPP3 HGNC ENSG00000159713 tier1 - - 67 0 0.00 41 4 8.89 TRIM42 0 genome.wustl.edu 37 3 140397293 140397293 + Silent SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 3 140397293 140397293 C T SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known silent c.222 p.P74 1.000 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 32 0 0.00 36 7 16.28 TRIM77 0 genome.wustl.edu 37 11 89444610 89444611 + Frame_Shift_Ins INS - - A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 11 89444610 89444611 - A INS TRIM77 ENST00000398290 human ensembl 74_37 +1 known frame_shift_ins c.444_445 p.Q151fs 0.059:0.039 NULL pfam_SPRY_rcpt,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 TRIM77 HGNC ENSG00000214414 tier1 55 0 0.00 63 7 10.00 TRPM2 0 genome.wustl.edu 37 21 45842268 45842268 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 21 45842268 45842268 G A SNP TRPM2 ENST00000397932 human ensembl 74_37 +1 novel missense c.3577 p.A1193T 0.001 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 tier1 - - 52 0 0.00 50 4 7.41 TSPYL2 0 genome.wustl.edu 37 X 53114892 53114892 + Missense_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 X 53114892 53114892 A G SNP TSPYL2 ENST00000375442 human ensembl 74_37 +1 known missense c.1318 p.I440V 0.967 NULL pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 tier1 - - 34 0 0.00 28 15 34.88 UBC 0 genome.wustl.edu 37 12 125396398 125396398 + Silent SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 12 125396398 125396398 A G SNP UBC ENST00000339647 human ensembl 74_37 -1 known silent c.1920 p.D640 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBC HGNC ENSG00000150991 tier1 rs8023 - 107 0 0.00 84 22 20.75 USP44 0 genome.wustl.edu 37 12 95927822 95927822 + Missense_Mutation SNP C C G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 12 95927822 95927822 C G SNP USP44 ENST00000258499 human ensembl 74_37 -1 known missense c.211 p.E71Q 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP44 HGNC ENSG00000136014 46 0 0.00 33 2 5.71 USP50 0 genome.wustl.edu 37 15 50792968 50792968 + Nonstop_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 15 50792968 50792968 A G SNP USP50 ENST00000532404 human ensembl 74_37 -1 known nonstop c.1003 p.*335R 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP50 HGNC ENSG00000170236 tier1 - - 48 0 0.00 40 4 9.09 VDAC2 0 genome.wustl.edu 37 10 76978897 76978897 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 76978897 76978897 G T SNP VDAC2 ENST00000313132 human ensembl 74_37 +1 known missense c.272 p.C91F 1.000 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC2 HGNC ENSG00000165637 tier1 - - 57 0 0.00 55 4 6.78 VPS13C 0 genome.wustl.edu 37 15 62305246 62305246 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 15 62305246 62305246 G T SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.817 p.Q273K 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 28 0 0.00 32 4 11.11 VPS16 0 genome.wustl.edu 37 20 2844831 2844831 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 20 2844831 2844831 G A SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known missense c.1618 p.E540K 1.000 pfam_Vps16_C,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 tier1 - - 96 0 0.00 62 24 27.91 XYLT1 0 genome.wustl.edu 37 16 17353097 17353097 + Frame_Shift_Del DEL C C - TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 16 17353097 17353097 C - DEL XYLT1 ENST00000261381 human ensembl 74_37 -1 known frame_shift_del c.661 p.D221fs 0.000 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 tier1 36 0 0.00 26 2 7.14 ZCCHC2 0 genome.wustl.edu 37 18 60242142 60242142 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 18 60242142 60242142 C T SNP ZCCHC2 ENST00000269499 human ensembl 74_37 +1 known missense c.2828 p.P943L 0.979 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 tier1 - - 41 0 0.00 13 4 23.53 ZFYVE27 0 genome.wustl.edu 37 10 99511159 99511159 + Silent SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 99511159 99511159 G T SNP ZFYVE27 ENST00000356257 human ensembl 74_37 +1 known silent c.831 p.P277 0.709 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE27 HGNC ENSG00000155256 51 0 0.00 53 4 7.02 ZIC2 0 genome.wustl.edu 37 13 100634697 100634697 + Frame_Shift_Del DEL G G - TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 13 100634697 100634697 G - DEL ZIC2 ENST00000376335 human ensembl 74_37 +1 known frame_shift_del c.379 p.D128fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 tier1 16 0 0.00 8 2 20.00 ZNF107 0 genome.wustl.edu 37 7 64168548 64168548 + Missense_Mutation SNP C C A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 7 64168548 64168548 C A SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.1866 p.N622K 0.085 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 tier1 - - 67 0 0.00 42 14 25.00 ZNF142 0 genome.wustl.edu 37 2 219513948 219513948 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 2 219513948 219513948 G A SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.683 p.A228V 0.998 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 21 0 0.00 20 2 9.09 ZNF225 0 genome.wustl.edu 37 19 44636226 44636226 + Nonsense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 44636226 44636226 G T SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known nonsense c.1459 p.E487* 0.006 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 ZNF225 HGNC ENSG00000256294 tier1 - - 70 0 0.00 53 4 7.02 ZNF365 0 genome.wustl.edu 37 10 64219517 64219517 + Silent SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 10 64219517 64219517 C T SNP ZNF365 ENST00000410046 human ensembl 74_37 +1 known silent c.942 p.G314 0.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 tier1 - - 48 0 0.00 22 4 15.38 ZNF536 0 genome.wustl.edu 37 19 31039530 31039530 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 31039530 31039530 G T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.3004 p.G1002C 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 32 0 0.00 25 2 7.41 ZNF584 0 genome.wustl.edu 37 19 58927227 58927227 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 58927227 58927227 G T SNP ZNF584 ENST00000322834 human ensembl 74_37 +1 putative missense c.310 p.A104S 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF584 HGNC ENSG00000171574 tier1 - - 81 0 0.00 54 5 8.47 ZNF611 0 genome.wustl.edu 37 19 53209056 53209056 + Silent SNP T T G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 19 53209056 53209056 T G SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known silent c.1252 p.R418 0.678 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 ZNF611 HGNC ENSG00000213020 67 0 0.00 67 4 5.63 ZNF644 0 genome.wustl.edu 37 1 91406699 91406699 + Missense_Mutation SNP G G T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 1 91406699 91406699 G T SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.212 p.T71K 0.964 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 36 0 0.00 38 2 5.00 ZNF747 0 genome.wustl.edu 37 16 30545838 30545838 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 105a18c9-df7e-4573-b1a2-6a987e57d553 d231404d-ece5-43c0-a8a3-e9f294ceb777 16 30545838 30545838 G A SNP ZNF747 ENST00000535210 human ensembl 74_37 -1 known missense c.163 p.R55W 0.579 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF747 HGNC ENSG00000169955 tier1 - - 62 0 0.00 73 5 6.41