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 ABCC3 8714 genome.wustl.edu 37 17 48750921 48750921 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 17 48750921 48750921 C T SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known missense c.2501 p.P834L 1.000 pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC AHCYL1 10768 genome.wustl.edu 37 1 110561084 110561084 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 110561084 110561084 G A SNP AHCYL1 ENST00000369799 human ensembl 70_37 +1 known missense c.1213 p.D405N 1.000 pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ANXA9 8416 genome.wustl.edu 37 1 150958852 150958852 + Silent SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 150958852 150958852 C A SNP ANXA9 ENST00000368947 human ensembl 70_37 +1 known silent c.513 p.T171 0.079 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXXXI - no_errors ANXA9 HGNC ASNA1 439 genome.wustl.edu 37 19 12858250 12858250 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 19 12858250 12858250 G A SNP ASNA1 ENST00000357332 human ensembl 70_37 +1 known silent c.759 p.L253 1.000 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,tigrfam_ATPase_ArsA/Get3 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,tigrfam_ATPase_ArsA/Get3 - no_errors ASNA1 HGNC ATP6V0D1 9114 genome.wustl.edu 37 16 67514899 67514899 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 16 67514899 67514899 C T SNP ATP6V0D1 ENST00000290949 human ensembl 70_37 -1 known missense c.91 p.A31T 1.000 pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D1 HGNC AWAT1 158833 genome.wustl.edu 37 X 69460048 69460048 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 X 69460048 69460048 C T SNP AWAT1 ENST00000374521 human ensembl 70_37 +1 known missense c.895 p.H299Y 1.000 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC C14orf39 317761 genome.wustl.edu 37 14 60933701 60933701 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 14 60933701 60933701 G A SNP C14orf39 ENST00000321731 human ensembl 70_37 -1 known missense c.829 p.L277F 1.000 NULL NULL - no_errors C14orf39 HGNC CBX4 8535 genome.wustl.edu 37 17 77808441 77808441 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 17 77808441 77808441 C T SNP CBX4 ENST00000269397 human ensembl 70_37 -1 known missense c.1000 p.G334R 0.004 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC CCDC148 130940 genome.wustl.edu 37 2 159170296 159170296 + Missense_Mutation SNP T T C TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 2 159170296 159170296 T C SNP CCDC148 ENST00000283233 human ensembl 70_37 -1 known missense c.875 p.Y292C 1.000 NULL NULL - no_errors CCDC148 HGNC CD3EAP 10849 genome.wustl.edu 37 19 45912703 45912703 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 19 45912703 45912703 G A SNP CD3EAP ENST00000589804 human ensembl 70_37 +1 known missense c.1483 p.E495K 0.000 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC CDH11 1009 genome.wustl.edu 37 16 65022100 65022100 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 16 65022100 65022100 G A SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known missense c.959 p.T320M 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC CHRNG 1146 genome.wustl.edu 37 2 233406222 233406222 + Missense_Mutation SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 2 233406222 233406222 C A SNP CHRNG ENST00000389494 human ensembl 70_37 +1 known missense c.489 p.N163K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC CLCN6 1185 genome.wustl.edu 37 1 11897157 11897157 + Silent SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 11897157 11897157 C T SNP CLCN6 ENST00000346436 human ensembl 70_37 +1 known silent c.2082 p.I694 0.002 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC CREB3L4 148327 genome.wustl.edu 37 1 153941905 153941905 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 153941905 153941905 G A SNP CREB3L4 ENST00000271889 human ensembl 70_37 +1 known missense c.517 p.V173I 0.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L4 HGNC CSF2RB 1439 genome.wustl.edu 37 22 37334311 37334311 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 22 37334311 37334311 G A SNP CSF2RB ENST00000262825 human ensembl 70_37 +1 known missense c.2479 p.D827N 0.888 pirsf_IL3_rcpt_beta pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC CUL4B 8450 genome.wustl.edu 37 X 119694468 119694468 + Missense_Mutation SNP G G T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 X 119694468 119694468 G T SNP CUL4B ENST00000404115 human ensembl 70_37 -1 known missense c.80 p.P27H 1.000 NULL pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC DCP1B 196513 genome.wustl.edu 37 12 2062323 2062324 + In_Frame_Ins INS - - TGC TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 12 2062323 2062324 - TGC INS DCP1B ENST00000280665 human ensembl 70_37 -1 known in_frame_ins c.783_782 p.262in_frame_insQ 0.742:0.836 NULL pfam_DCP1 - no_errors DCP1B HGNC DENND2C 163259 genome.wustl.edu 37 1 115168296 115168296 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 115168296 115168296 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known missense c.310 p.D104N 0.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC DNAH8 1769 genome.wustl.edu 37 6 38702259 38702259 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 6 38702259 38702259 G A SNP DNAH8 ENST00000449981 human ensembl 70_37 +1 known missense c.620 p.R207Q 0.998 NULL pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC FA2H 79152 genome.wustl.edu 37 16 74752969 74752969 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 16 74752969 74752969 G A SNP FA2H ENST00000219368 human ensembl 70_37 -1 known missense c.703 p.R235C 1.000 pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors FA2H HGNC FAM107B 83641 genome.wustl.edu 37 10 14816480 14816480 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 10 14816480 14816480 G A SNP FAM107B ENST00000181796 human ensembl 70_37 -1 known silent c.183 p.G61 0.000 NULL pfam_DUF1151 - no_errors FAM107B HGNC FAM214A 56204 genome.wustl.edu 37 15 52877015 52877015 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 15 52877015 52877015 C T SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known missense c.3004 p.V1002M 0.979 NULL NULL - no_errors FAM214A HGNC GNAI2 2771 genome.wustl.edu 37 3 50293634 50293634 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 3 50293634 50293634 G A SNP GNAI2 ENST00000313601 human ensembl 70_37 +1 known missense c.475 p.D159N 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA - no_errors GNAI2 HGNC GPR111 222611 genome.wustl.edu 37 6 47646846 47646846 + Silent SNP T T C TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 6 47646846 47646846 T C SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known silent c.447 p.T149 0.195 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC HLA-E 3133 genome.wustl.edu 37 6 30459060 30459060 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 6 30459060 30459060 G A SNP HLA-E ENST00000376630 human ensembl 70_37 +1 known missense c.757 p.E253K 0.999 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-E HGNC INTS1 26173 genome.wustl.edu 37 7 1517492 1517492 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 7 1517492 1517492 C T SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known missense c.5308 p.A1770T 0.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC IQCF2 389123 genome.wustl.edu 37 3 51897275 51897275 + Silent SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 3 51897275 51897275 C T SNP IQCF2 ENST00000333127 human ensembl 70_37 +1 known silent c.384 p.I128 0.677 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF2 HGNC IRX6 79190 genome.wustl.edu 37 16 55362886 55362886 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 16 55362886 55362886 G A SNP IRX6 ENST00000290552 human ensembl 70_37 +1 known silent c.996 p.A332 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX6 HGNC KIAA1109 84162 genome.wustl.edu 37 4 123227038 123227038 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 4 123227038 123227038 G A SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.9679 p.E3227K 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC KIF12 113220 genome.wustl.edu 37 9 116854239 116854239 + Frame_Shift_Del DEL G G - TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 9 116854239 116854239 G - DEL KIF12 ENST00000259410 human ensembl 70_37 -1 known frame_shift_del c.1843 p.L615fs 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC KRT31 3881 genome.wustl.edu 37 17 39553231 39553231 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 17 39553231 39553231 G A SNP KRT31 ENST00000251645 human ensembl 70_37 -1 known missense c.365 p.S122F 0.005 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC LGR6 59352 genome.wustl.edu 37 1 202279443 202279443 + Missense_Mutation SNP A A G TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 202279443 202279443 A G SNP LGR6 ENST00000367278 human ensembl 70_37 +1 known missense c.1525 p.K509E 0.993 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC LOC440518 440518 genome.wustl.edu 37 19 22785608 22785608 + RNA SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 19 22785608 22785608 C A SNP LOC440518 ENST00000600260 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-457E21.3 Clone_based_vega_gene LOC641367 641367 genome.wustl.edu 37 19 21934426 21934426 + RNA SNP C C G TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 19 21934426 21934426 C G SNP LOC641367 ENST00000596710 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-420K14.6 Clone_based_vega_gene MAP3K4 4216 genome.wustl.edu 37 6 161519351 161519353 + In_Frame_Del DEL CTG CTG - TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 6 161519351 161519353 CTG - DEL MAP3K4 ENST00000392142 human ensembl 70_37 +1 known in_frame_del c.3566_3568 p.A1193in_frame_del 0.857:0.937:0.950 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors MAP3K4 HGNC MBD5 55777 genome.wustl.edu 37 2 149247488 149247488 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 2 149247488 149247488 G A SNP MBD5 ENST00000407073 human ensembl 70_37 +1 known silent c.3588 p.Q1196 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC MGAM 8972 genome.wustl.edu 37 7 141802440 141802440 + Silent SNP G G C TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 7 141802440 141802440 G C SNP MGAM ENST00000549489 human ensembl 70_37 +1 known silent c.5286 p.G1762 0.012 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC MGEA5 10724 genome.wustl.edu 37 10 103557892 103557892 + Missense_Mutation SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 10 103557892 103557892 C A SNP MGEA5 ENST00000361464 human ensembl 70_37 -1 known missense c.1829 p.R610L 1.000 NULL pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC MIS18BP1 55320 genome.wustl.edu 37 14 45706865 45706865 + Frame_Shift_Del DEL T T - TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 14 45706865 45706865 T - DEL MIS18BP1 ENST00000310806 human ensembl 70_37 -1 known frame_shift_del c.1203 p.E402fs 0.999 pfam_SANTA pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC MUC5B 727897 genome.wustl.edu 37 11 1264717 1264717 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 11 1264717 1264717 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.6616 p.P2206S 0.005 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC NCAM2 4685 genome.wustl.edu 37 21 22710836 22710836 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 21 22710836 22710836 G A SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known silent c.1026 p.T342 0.055 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC NLE1 54475 genome.wustl.edu 37 17 33467052 33467052 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 17 33467052 33467052 C T SNP NLE1 ENST00000442241 human ensembl 70_37 -1 known missense c.196 p.D66N 0.047 pfam_NLE pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B - no_errors NLE1 HGNC NTN4 59277 genome.wustl.edu 37 12 96063914 96063914 + Nonsense_Mutation SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 12 96063914 96063914 C A SNP NTN4 ENST00000343702 human ensembl 70_37 -1 known nonsense c.1519 p.E507* 1.000 superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC NUCB1 4924 genome.wustl.edu 37 19 49424486 49424486 + Missense_Mutation SNP G G C TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 19 49424486 49424486 G C SNP NUCB1 ENST00000263273 human ensembl 70_37 +1 known missense c.1078 p.E360Q 0.998 NULL pfscan_EF_HAND_2 - no_errors NUCB1 HGNC PARD3 56288 genome.wustl.edu 37 10 34739377 34739377 + Splice_Site SNP C C G TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 10 34739377 34739377 C G SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known splice_site c.583-1 e5-1 1.000 - - - no_errors PARD3 HGNC PAX7 5081 genome.wustl.edu 37 1 19027177 19027177 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 19027177 19027177 C T SNP PAX7 ENST00000375375 human ensembl 70_37 +1 known missense c.817 p.R273C 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Paired_dom,pfam_Homeodomain,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX7 HGNC PIAS2 9063 genome.wustl.edu 37 18 44407992 44407992 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 18 44407992 44407992 C T SNP PIAS2 ENST00000585916 human ensembl 70_37 -1 known missense c.1438 p.E480K 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS2 HGNC PRICKLE3 4007 genome.wustl.edu 37 X 49040116 49040119 + Frame_Shift_Del DEL GTGT GTGT - TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 X 49040116 49040119 GTGT - DEL PRICKLE3 ENST00000536904 human ensembl 70_37 -1 known frame_shift_del c.179_176 p.H59fs 0.149:0.119:0.101:0.083 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC PTGES3 10728 genome.wustl.edu 37 12 57081748 57081748 + RNA SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 12 57081748 57081748 C T SNP PTGES3 ENST00000537473 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PTGES3 HGNC RAB3IP 117177 genome.wustl.edu 37 12 70178523 70178523 + Missense_Mutation SNP A A C TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 12 70178523 70178523 A C SNP RAB3IP ENST00000550536 human ensembl 70_37 +1 known missense c.582 p.E194D 1.000 pfam_Sec2p pfam_Sec2p - no_errors RAB3IP HGNC RAI1 10743 genome.wustl.edu 37 17 17697094 17697096 + In_Frame_Del DEL CAG CAG - TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 17 17697094 17697096 CAG - DEL RAI1 ENST00000353383 human ensembl 70_37 +1 known in_frame_del c.832_834 p.Q281in_frame_del 0.831:0.157:0.050 NULL smart_Znf_PHD - no_errors RAI1 HGNC RASSF1 11186 genome.wustl.edu 37 3 50374657 50374657 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 3 50374657 50374657 C T SNP RASSF1 ENST00000327761 human ensembl 70_37 -1 known missense c.94 p.E32K 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF1 HGNC SLC8A3 6547 genome.wustl.edu 37 14 70512940 70512940 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 14 70512940 70512940 G A SNP SLC8A3 ENST00000381269 human ensembl 70_37 -1 known silent c.2508 p.I836 0.817 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC SLFN5 162394 genome.wustl.edu 37 17 33591389 33591390 + Frame_Shift_Ins INS - - A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 17 33591389 33591390 - A INS SLFN5 ENST00000299977 human ensembl 70_37 +1 known frame_shift_ins c.1326_1327 p.L442fs 0.903:0.855 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN5 HGNC TBP 6908 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 70_37 +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC TESK1 7016 genome.wustl.edu 37 9 35608000 35608000 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 9 35608000 35608000 C T SNP TESK1 ENST00000336395 human ensembl 70_37 +1 known missense c.787 p.R263C 1.000 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_cat_dom pfam_Prot_kinase_cat_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_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC TMEM163 81615 genome.wustl.edu 37 2 135223716 135223716 + Missense_Mutation SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 2 135223716 135223716 C A SNP TMEM163 ENST00000281924 human ensembl 70_37 -1 known missense c.636 p.K212N 1.000 NULL NULL - no_errors TMEM163 HGNC TRIM58 25893 genome.wustl.edu 37 1 248039396 248039396 + Missense_Mutation SNP G G T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 248039396 248039396 G T SNP TRIM58 ENST00000366481 human ensembl 70_37 +1 known missense c.1066 p.A356S 0.001 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC TRPC3 7222 genome.wustl.edu 37 4 122828641 122828641 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 4 122828641 122828641 C T SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known missense c.1874 p.R625Q 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC TSC1 7248 genome.wustl.edu 37 9 135801105 135801105 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 9 135801105 135801105 C T SNP TSC1 ENST00000298552 human ensembl 70_37 -1 known missense c.232 p.E78K 1.000 pfam_Hamartin,superfamily_ARM-type_fold pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC TTN 7273 genome.wustl.edu 37 2 179483070 179483070 + Silent SNP A A T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 2 179483070 179483070 A T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.39411 p.V13137 0.108 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC WDTC1 23038 genome.wustl.edu 37 1 27627932 27627932 + Missense_Mutation SNP T T A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 27627932 27627932 T A SNP WDTC1 ENST00000319394 human ensembl 70_37 +1 known missense c.1448 p.L483H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC WNK1 65125 genome.wustl.edu 37 12 978057 978057 + Silent SNP A A G TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 12 978057 978057 A G SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known silent c.3420 p.Q1140 0.841 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC XDH 7498 genome.wustl.edu 37 2 31605889 31605889 + Missense_Mutation SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 2 31605889 31605889 C A SNP XDH ENST00000379416 human ensembl 70_37 -1 known missense c.1016 p.G339V 1.000 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ZSCAN9 7746 genome.wustl.edu 37 6 28194897 28194897 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 6 28194897 28194897 G A SNP ZNF193 ENST00000252207 human ensembl 70_37 +1 known missense c.35 p.G12D 0.005 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF193 HGNC ZNF277 11179 genome.wustl.edu 37 7 111846857 111846857 + Missense_Mutation SNP A A G TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 7 111846857 111846857 A G SNP ZNF277 ENST00000361822 human ensembl 70_37 +1 known missense c.86 p.Y29C 0.143 NULL pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ZNF43 7594 genome.wustl.edu 37 19 21990581 21990583 + In_Frame_Del DEL TTA TTA - TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 TTA TTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 19 21990581 21990583 TTA - DEL ZNF43 ENST00000354959 human ensembl 70_37 -1 known in_frame_del c.2258_2256 p.HK752in_frame_delQ 0.695:0.699:0.734 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC