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 CELSR2 0 genome.wustl.edu 37 1 109794776 109794776 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 1 109794776 109794776 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.2075 p.R692Q 0.158 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 138 0 0 105 27 20.4545 HIPK1 0 genome.wustl.edu 37 1 114483281 114483281 + Silent SNP G G T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 1 114483281 114483281 G T SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known silent c.276 p.S92 0.031 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 HIPK1 HGNC ENSG00000163349 137 0 0 118 28 19.1781 CTSS 0 genome.wustl.edu 37 1 150722491 150722491 + Missense_Mutation SNP A A G TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 1 150722491 150722491 A G SNP CTSS ENST00000368985 human ensembl 74_37 -1 known missense c.784 p.Y262H 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC ENSG00000163131 60 0 0 50 11 18.0328 HMCN1 0 genome.wustl.edu 37 1 185988786 185988786 + Missense_Mutation SNP A A C TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 1 185988786 185988786 A C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.5584 p.K1862Q 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 124 0 0 113 26 18.705 KCNT2 0 genome.wustl.edu 37 1 196398803 196398803 + Silent SNP A A T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 1 196398803 196398803 A T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known silent c.723 p.S241 0.997 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 66 0 0 73 23 23.9583 IGFN1 0 genome.wustl.edu 37 1 201195249 201195249 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 1 201195249 201195249 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.10784 p.R3595H 0.476 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 42 0 0 52 10 16.129 BROX 0 genome.wustl.edu 37 1 222892355 222892355 + Missense_Mutation SNP T T C TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 1 222892355 222892355 T C SNP BROX ENST00000539697 human ensembl 74_37 +1 known missense c.190 p.Y64H 0.998 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC ENSG00000162819 127 0 0 121 29 19.3333 KCNQ4 0 genome.wustl.edu 37 1 41304234 41304234 + RNA SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 1 41304234 41304234 G A SNP KCNQ4 ENST00000506017 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors KCNQ4 HGNC ENSG00000117013 48 0 0 26 8 23.5294 IFI44L 0 genome.wustl.edu 37 1 79102793 79102793 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 1 79102793 79102793 G A SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known missense c.953 p.C318Y 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 170 0 0 169 30 15.0754 BCL10 0 genome.wustl.edu 37 1 85736384 85736384 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 1 85736384 85736384 C T SNP BCL10 ENST00000370580 human ensembl 74_37 -1 known missense c.263 p.R88Q 0.946 pfam_CARD,superfamily_DEATH-like_dom pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors BCL10 HGNC ENSG00000142867 82 0 0 89 12 11.8812 PTCHD3 0 genome.wustl.edu 37 10 27702994 27702994 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 10 27702994 27702994 C T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known silent c.186 p.S62 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 117 0 0 136 22 13.9241 MUC6 0 genome.wustl.edu 37 11 1031906 1031906 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 11 1031906 1031906 C T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.263 p.R88Q 0.992 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 85 0 0 61 11 15.2778 FCHSD2 0 genome.wustl.edu 37 11 72695249 72695249 + Silent SNP G G T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 11 72695249 72695249 G T SNP FCHSD2 ENST00000409418 human ensembl 74_37 -1 known silent c.589 p.R197 0.997 NULL pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 79 0 0 86 19 18.0952 FAT3 0 genome.wustl.edu 37 11 92616530 92616530 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 11 92616530 92616530 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.12908 p.R4303Q 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 72 0 0 75 12 13.7931 ENDOD1 0 genome.wustl.edu 37 11 94861549 94861549 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 11 94861549 94861549 C T SNP ENDOD1 ENST00000278505 human ensembl 74_37 +1 known silent c.309 p.D103 0.998 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors ENDOD1 HGNC ENSG00000149218 100 0 0 68 21 23.5955 ATN1 0 genome.wustl.edu 37 12 7045235 7045235 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 12 7045235 7045235 G A SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.805 p.G269S 0.956 NULL pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 89 0 0 83 19 18.6275 TMTC2 0 genome.wustl.edu 37 12 83250837 83250837 + Silent SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 12 83250837 83250837 G A SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known silent c.132 p.T44 0.006 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 245 0 0 228 20 8.06452 DPF3 0 genome.wustl.edu 37 14 73190342 73190342 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 14 73190342 73190342 C T SNP DPF3 ENST00000366353 human ensembl 74_37 -1 known missense c.689 p.R230Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 225 0 0 238 26 9.84848 NRDE2 0 genome.wustl.edu 37 14 90767687 90767687 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 14 90767687 90767687 G A SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.1441 p.R481W 1.000 pfam_NRDE-2 pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 80 0 0 67 11 14.1026 C16orf71 0 genome.wustl.edu 37 16 4797531 4797531 + Missense_Mutation SNP G G T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 16 4797531 4797531 G T SNP C16orf71 ENST00000299320 human ensembl 74_37 +1 known missense c.1468 p.A490S 0.001 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 43 0 0 42 9 17.6471 NLRC5 0 genome.wustl.edu 37 16 57059473 57059473 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 16 57059473 57059473 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known silent c.618 p.D206 0.000 superfamily_P-loop_NTPase pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 287 1 0.347222 245 52 17.5084 GPR114 0 genome.wustl.edu 37 16 57609350 57609350 + Missense_Mutation SNP G G T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 16 57609350 57609350 G T SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known missense c.1487 p.G496V 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 63 0 0 68 9 11.6883 YWHAE 0 genome.wustl.edu 37 17 1264542 1264542 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 17 1264542 1264542 C T SNP YWHAE ENST00000264335 human ensembl 74_37 -1 known missense c.422 p.R141K 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAE HGNC ENSG00000108953 217 0 0 249 62 19.9357 SLC13A2 0 genome.wustl.edu 37 17 26818792 26818792 + Missense_Mutation SNP T T A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 17 26818792 26818792 T A SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known missense c.947 p.F316Y 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 91 0 0 84 47 35.8779 TBC1D3P2 0 genome.wustl.edu 37 17 60342186 60342186 + RNA SNP T T C TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 17 60342186 60342186 T C SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.062 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 26 0 0 17 3 15 TBC1D3P2 0 genome.wustl.edu 37 17 60342197 60342197 + RNA SNP T T C TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 17 60342197 60342197 T C SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.153 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 32 0 0 19 3 13.6364 GEMIN4 0 genome.wustl.edu 37 17 649304 649304 + Missense_Mutation SNP A A C TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 17 649304 649304 A C SNP GEMIN4 ENST00000319004 human ensembl 74_37 -1 known missense c.1979 p.L660W 0.974 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 87 0 0 93 8 7.92079 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 17 7577121 7577121 G T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273S 0.830 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 47 0 0 27 16 37.2093 ANKRD30B 0 genome.wustl.edu 37 18 14763871 14763871 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 18 14763871 14763871 C T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.1007 p.P336L 0.091 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 31 0 0 36 5 12.1951 ST8SIA5 0 genome.wustl.edu 37 18 44260212 44260212 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 18 44260212 44260212 C T SNP ST8SIA5 ENST00000315087 human ensembl 74_37 -1 known silent c.924 p.A308 0.996 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 160 0 0 123 36 22.6415 RALBP1 0 genome.wustl.edu 37 18 9535916 9535916 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 18 9535916 9535916 G A SNP RALBP1 ENST00000019317 human ensembl 74_37 +1 known missense c.1949 p.R650K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 45 0 0 41 7 14.5833 SYDE1 0 genome.wustl.edu 37 19 15224376 15224376 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 19 15224376 15224376 C T SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known missense c.1810 p.R604C 0.035 pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 465 1 0.214592 343 100 22.5734 BCKDHA 0 genome.wustl.edu 37 19 41920017 41920017 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 19 41920017 41920017 G A SNP BCKDHA ENST00000595085 human ensembl 74_37 +1 known missense c.541 p.A181T 1.000 pfam_DH_E1 pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 118 0 0 130 18 12.1622 NLRP2 0 genome.wustl.edu 37 19 55494535 55494535 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 19 55494535 55494535 G A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.1469 p.R490H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 115 1 0.862069 95 22 18.8034 TMEM237 0 genome.wustl.edu 37 2 202492808 202492808 + Missense_Mutation SNP C C A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 2 202492808 202492808 C A SNP TMEM237 ENST00000409883 human ensembl 74_37 -1 known missense c.934 p.A312S 1.000 NULL NULL - no_errors TMEM237 HGNC ENSG00000155755 21 0 0 26 2 7.14286 ADCY3 0 genome.wustl.edu 37 2 25044392 25044392 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 2 25044392 25044392 G A SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.3121 p.R1041C 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 228 0 0 230 50 17.8571 CAPN13 0 genome.wustl.edu 37 2 30966280 30966280 + Nonsense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 2 30966280 30966280 G A SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known nonsense c.1414 p.R472* 0.999 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 448 1 0.222717 421 58 12.1086 MYLK2 0 genome.wustl.edu 37 20 30414609 30414609 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 20 30414609 30414609 C T SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known silent c.1092 p.G364 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK2 HGNC ENSG00000101306 55 0 0 57 5 8.06452 CENPB 0 genome.wustl.edu 37 20 3766016 3766016 + Missense_Mutation SNP C C G TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 20 3766016 3766016 C G SNP CENPB ENST00000379751 human ensembl 74_37 -1 known missense c.1115 p.W372S 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 21 0 0 11 4 26.6667 CHD6 0 genome.wustl.edu 37 20 40043913 40043913 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 20 40043913 40043913 C T SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known silent c.6852 p.T2284 0.010 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 144 0 0 250 29 10.3943 PREX1 0 genome.wustl.edu 37 20 47324856 47324856 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 20 47324856 47324856 C T SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.725 p.R242Q 1.000 superfamily_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 287 1 0.347222 473 63 11.7537 B4GALT5 0 genome.wustl.edu 37 20 48263510 48263510 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 20 48263510 48263510 G A SNP B4GALT5 ENST00000371711 human ensembl 74_37 -1 known missense c.356 p.P119L 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT5 HGNC ENSG00000158470 164 1 0.606061 251 39 13.4483 UFD1L 0 genome.wustl.edu 37 22 19444143 19444143 + Silent SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 22 19444143 19444143 G A SNP UFD1L ENST00000263202 human ensembl 74_37 -1 known silent c.645 p.D215 1.000 NULL pfam_UFD1 - no_errors UFD1L HGNC ENSG00000070010 155 0 0 135 19 12.3377 PRR23A 0 genome.wustl.edu 37 3 138724598 138724598 + Silent SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 3 138724598 138724598 G A SNP PRR23A ENST00000383163 human ensembl 74_37 -1 known silent c.513 p.S171 0.001 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23A HGNC ENSG00000206260 36 0 0 45 10 18.1818 CELSR3 0 genome.wustl.edu 37 3 48698891 48698891 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 3 48698891 48698891 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.1177 p.R393C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 48 0 0 44 5 10.2041 LEF1 0 genome.wustl.edu 37 4 109010376 109010376 + Missense_Mutation SNP A A G TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 4 109010376 109010376 A G SNP LEF1 ENST00000265165 human ensembl 74_37 -1 known missense c.452 p.V151A 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors LEF1 HGNC ENSG00000138795 114 0 0 94 28 22.9508 TENM3 0 genome.wustl.edu 37 4 183675916 183675916 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 4 183675916 183675916 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.4396 p.A1466T 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 81 0 0 86 16 15.6863 SLC4A4 0 genome.wustl.edu 37 4 72313451 72313451 + Splice_Site SNP G G T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 4 72313451 72313451 G T SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known splice_site c.1053+1 e8+1 1.000 - - - no_errors SLC4A4 HGNC ENSG00000080493 24 0 0 24 10 29.4118 PJA2 0 genome.wustl.edu 37 5 108698688 108698688 + Missense_Mutation SNP C C A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 5 108698688 108698688 C A SNP PJA2 ENST00000361189 human ensembl 74_37 -1 known missense c.1505 p.W502L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 201 0 0 176 30 14.5631 FAT2 0 genome.wustl.edu 37 5 150921854 150921854 + Missense_Mutation SNP T T A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 5 150921854 150921854 T A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.8834 p.Y2945F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 184 0 0 163 39 19.3069 FBXO4 0 genome.wustl.edu 37 5 41934278 41934278 + Missense_Mutation SNP A A C TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 5 41934278 41934278 A C SNP FBXO4 ENST00000281623 human ensembl 74_37 +1 known missense c.766 p.N256H 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO4 HGNC ENSG00000151876 93 0 0 61 16 20.7792 GPX8 0 genome.wustl.edu 37 5 54460164 54460164 + RNA SNP A A G TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 5 54460164 54460164 A G SNP GPX8 ENST00000506123 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX8 HGNC ENSG00000164294 14 0 0 10 2 16.6667 ADCY2 0 genome.wustl.edu 37 5 7766854 7766854 + Missense_Mutation SNP A A G TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 5 7766854 7766854 A G SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.2149 p.T717A 0.001 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 169 0 0 159 45 22.0588 EDIL3 0 genome.wustl.edu 37 5 83476332 83476332 + Nonsense_Mutation SNP G G T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 5 83476332 83476332 G T SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known nonsense c.234 p.C78* 0.745 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 35 0 0 20 4 16.6667 EHMT2 0 genome.wustl.edu 37 6 31848468 31848468 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 6 31848468 31848468 C T SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known missense c.3605 p.R1202Q 0.996 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 108 0 0 72 25 25.7732 HLA-DQB2 0 genome.wustl.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 6 32725559 32725559 C T SNP HLA-DQB2 ENST00000435145 human ensembl 74_37 -1 known missense c.748 p.G250S 0.392 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQB2 HGNC ENSG00000232629 33 0 0 39 7 15.2174 HLA-DQB2 0 genome.wustl.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 6 32725567 32725567 C T SNP HLA-DQB2 ENST00000435145 human ensembl 74_37 -1 known missense c.740 p.R247H 0.030 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQB2 HGNC ENSG00000232629 38 0 0 39 8 17.0213 ZNF76 0 genome.wustl.edu 37 6 35260365 35260365 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 6 35260365 35260365 C T SNP ZNF76 ENST00000373953 human ensembl 74_37 +1 known silent c.966 p.C322 0.830 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 104 0 0 72 16 18.1818 GUCA1A 0 genome.wustl.edu 37 6 42141400 42141400 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 6 42141400 42141400 G A SNP GUCA1A ENST00000053469 human ensembl 74_37 +1 known missense c.49 p.E17K 1.000 prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1A HGNC ENSG00000048545 124 0 0 101 28 21.7054 CDK13 0 genome.wustl.edu 37 7 40134360 40134360 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 7 40134360 40134360 C T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known silent c.4320 p.S1440 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 102 0 0 80 13 13.9785 ASB4 0 genome.wustl.edu 37 7 95157511 95157511 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 7 95157511 95157511 G A SNP ASB4 ENST00000325885 human ensembl 74_37 +1 known missense c.874 p.V292M 0.993 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB4 HGNC ENSG00000005981 87 0 0 80 8 9.09091 WISP1 0 genome.wustl.edu 37 8 134233084 134233084 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 8 134233084 134233084 G A SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.610 p.D204N 0.975 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 47 0 0 70 7 9.09091 FAM135B 0 genome.wustl.edu 37 8 139323096 139323096 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 8 139323096 139323096 C T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.145 p.A49T 0.005 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 85 0 0 73 4 5.19481 CTNNAL1 0 genome.wustl.edu 37 9 111741743 111741743 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 9 111741743 111741743 G A SNP CTNNAL1 ENST00000325551 human ensembl 74_37 -1 known missense c.919 p.R307W 1.000 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 53 0 0 30 14 31.8182 ENSG00000231242 0 genome.wustl.edu 37 9 69083023 69083023 + RNA SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 9 69083023 69083023 G A SNP ENSG00000231242 ENST00000412376 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-87H9.3 Clone_based_vega_gene ENSG00000231242 18 0 0 30 4 11.7647 TRPM3 0 genome.wustl.edu 37 9 73233887 73233887 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 9 73233887 73233887 C T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.2299 p.V767M 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 71 0 0 62 11 15.0685 PDK3 0 genome.wustl.edu 37 X 24517002 24517002 + Missense_Mutation SNP C C A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc X 24517002 24517002 C A SNP PDK3 ENST00000441463 human ensembl 74_37 +1 known missense c.305 p.P102Q 0.970 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK3 HGNC ENSG00000067992 33 0 0 30 2 6.25 FAM120C 0 genome.wustl.edu 37 X 54107882 54107882 + Missense_Mutation SNP T T C TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc X 54107882 54107882 T C SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known missense c.2851 p.I951V 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 47 0 0 57 7 10.9375 NAP1L2 0 genome.wustl.edu 37 X 72433514 72433514 + Missense_Mutation SNP A A T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc X 72433514 72433514 A T SNP NAP1L2 ENST00000373517 human ensembl 74_37 -1 known missense c.815 p.I272N 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 46 0 0 33 14 29.7872 PHLDA1 0 genome.wustl.edu 37 12 76424987 76424988 + Frame_Shift_Ins INS - - C TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 12 76424987 76424988 - C INS PHLDA1 ENST00000266671 human ensembl 74_37 -1 known frame_shift_ins c.535_534 p.L178fs 1.000:1.000 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PHLDA1 HGNC ENSG00000139289 41 0 0 35 3 7.89474 RBBP6 0 genome.wustl.edu 37 16 24583196 24583197 + Frame_Shift_Ins INS - - A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 16 24583196 24583197 - A INS RBBP6 ENST00000319715 human ensembl 74_37 +1 known frame_shift_ins c.4809_4810 p.T1603fs 0.000:0.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 182 0 0 185 25 11.9048 KANSL1L 0 genome.wustl.edu 37 2 210887679 210887680 + Frame_Shift_Ins INS - - T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 2 210887679 210887680 - T INS KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_ins c.2958_2957 p.N986fs 0.402:0.980 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 52 0 0 52 7 11.8644 TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 17 0 0 15 2 11.7647 PRDM13 0 genome.wustl.edu 37 6 100054944 100054945 + Frame_Shift_Ins INS - - T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc 6 100054944 100054945 - T INS PRDM13 ENST00000369215 human ensembl 74_37 +1 known frame_shift_ins c.34_35 p.S13fs 1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 59 0 0 56 8 12.5